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Dihybrid:
The progery from a cross between two homozygous parents differing for two
genes ( or characters):- an individual heterozygous for two genes. ( Aa Aa)
Poly hybrid:
The progeny from across between two homozygous parents differing for more
than 2 genes (or characters) an individual heterozygous for three genes ( Aa Aa Aa).
Back cross:
The cross of a F1 hybrid to one of its parents.
Test cross:
The cross of an F1 hybrid with an individual / strain having the recessive
phenotype for the concerned trait.
The Laws of Mendel
A number of scientists had worked plant hybridization during the 18 th and 19th
centuries prior to mendel. Some of the more notable scientists from among them
koelreuter ,John Goss, sargaret ,Gartner ,Darwin,Hebert,Lecog,Vichura and Naudin.
Koelreuter conducted extensive studies on hybridization in tobacco between 1760 and
1766; he noted the uniformity and heterosis
ii.
F1 progeny are uniform in their characters, i.e., all the plants in F1 from
a cross are similar to each other .But F2 generation shows large variation
for different characteristics which is due to consequence of segregation
and recombination.
iv.
v.
Some plants in F2 have entirely new character forms, differ from those
of the two parents.
vi.
ii.
iii.
iv.
v.
vi.
characters in F2.
vii.
viii.
ii.
The Y gene in mice has a dominant phenotypic effect on coat colour, but is a
recessive lethal. The two characteristics feature of a recessive lethal are given below,
They are always present in the heterozygotes for a recessive lethal gene
i.
Yy
Yellow
Gametes
----
Progeny
Yellow
y
Y
O
Y
Phenotypic
ratio:
2Y:
Y
YY 1grey
Genotypic ratio:2Yy:1yy
Dies
y
Yy
yellow
y
Yy
Yellow
yy
Grey
Thus, the heritance of yellow coat colour in mice may be explained as follows.
The dominant allele Y is a recessive lethal and that YY embryos do not survive. As a
result, all the yellow mice are heterozygotes ( Yy) for this gene. Therefore mating of
yellow females with yellow males would produce the following four zygotes.
i.
One fourth YY, 2 one half Yy and one forth yy. Homozygous YY
embryos will die at an early stage. Heterozygous Yy embryos will
develop normally and give rise to yellow mice while yy embryo will
develop in to grey individuals. Thus the phenotypic ratio obtained in the
yellow x yellow matings will be 2 : 1 in place of the typical
monohybrid ratio of 3:1.
Example II
Inheritance of a gene producing albino seedlings in plants.
Albino seedlings almost white, are unable to produce their own food and dies as soon
as seed reserve.
Parents
Aa
Aa
Green
Gametes
----
Green
a
A
A
a
Phenotypic
ratio:
3:1
A
AA
Aa
Green : albino
Green
Green
Genotypic ratio
: 1:2:1
a
AaAA: Aa : aaaa
Green
albino
(dies)
Dominant lethal
Some lethal genes reduce viability in the heterozygous state, as well such genes are
known as dominant lethals.
An example of a dominant lethal is the epiloia gene in human being. This gene
causes abnormal skin growths, senere mental defects and multiple tumors in the
heterozygotes. So that they die before reaching adulthood. Dominant lethal, therefore
cannot be maintained in the population while recessive lethal are maintained in the
heterosing state. Thus the dominant lethal have so be produced in every generation
through mutation.
Conditional lethals:
Lethal genes that require specific condition for their legal action are term as
conditional lethal. Many mutants Dropsophila, Neurosperr, barey, maize and many
other organism.
Balanced lethal:
Lethal genes linted in repulsion phase; they are maintained in this phase due to
light lonkge or crossing over suppression only their heterozygots .
Plecotropy:
A single gene affecting more than one character. Such genes are known as
pliotropis genes and the conditions is termed as pleiotropy. An example
of a
pleiotropic gene in human being to the gene and ( some forms denoted as .. which
produces. Sickle cell anemis in the homozygotes. More than 50% of the individual
homozygous for this gene (ss) die before the age of 20 years.
Penetrance:
In general, genes express themselves in all the individuals present in the
appropriate genotype; This is coorplete penetrance. But many genes do not produce
the concerned phenotype in all the individuals which carry them in the appropriate
genotype. Such a Situation in known as incomplete preference When a gene is present
in the appropriate genotype, the percent individuals in which it is able to express itself
is a measure of its peretrance. Example chlorophyee deficeeing gene. In lina beans
has a penetrance of 10%.
Expressivity:
The ability of a gene to produce identical genotype in all the individuals
carrying it in the appropriate genotype is known as complete expressivity.
Incomplete expressivity:
They produce variable pyenotype in all the individuals that have this gene in
the appropriate genotype.
Example Partial chlorophyle deficiency in the cotyledenory leaves of lima
beem (Varying degree of chlorophyll deficiency.
Gene interaction:
The phenomenon of two or more gene affecting the expression of each other in
various ways in the development of a single character of an organism is known as
gene interation.
Complete dominance:
The phenotype produced by heterozygotes is identical with that produced by
homozygotes for the concerned dominant allele.
aa
Aa
AA
Aa
Aa
Incomplete
Complete
Over
Dominance
dominance
dominance
For example
Parents
RR
rr
Red
white
Gametes
Rr
pink
F1
Gametes
O
R
R
RR
r
Rr
Red
Pink
Rr
rr
White
Phenotypic ratio
- 1 Red
: 2 Pink
: 1 white
Genotypic ratio
- 1 RR
: 2 Rr
: 1 rr
IAIB
IAIB
Blood group AB
Gametes ----
IA
Blood group AB
IB
IB
IA
O
IA
IA
IA IA
IB
IA IB
BG-AB
IB
BG-A
IA IB
BG-AB
BG-B
Phenotypic ratio: IA
Genotypic ratio : 1 I A I A :
IB IB
2AB :
1BB
2 IAI B :
1IB IB
One of the most widely known and the earlier revegnised, human bloced
groups is the ABO blood group. These blood group arise due to the presence / absence
of an antigen on the surface of red blood cells, these antigens are produced by the
gene 1.One dominant allele of this, gene, I A produces antigen A which give rise to
blood group A.
Another dominant allele of the gene 1, IB produces antigen B which is
responsible for blood group B. the heterozygote IA I
their respective antigens, as a result, the heterozygotes are classified in the AB blood
group.
Over dominance:
for some of
ii.
iii.
iv.
v.
vi.
vii.
Parents
Gametes
PPrr
PPRR
pea
Rose
P
r
P
R
F1
PR
PpRr
Walnut
Pr
pR
Pr
PR
PPRR
PPRr
PpRR
PpRr
Pr
Walnut
PPPr
pR
Walnut
PpRR
Pea
PpRr
pr
Walnut
PpRr
Walnut Rose
Pprr
ppRr
Walnut Pea
ppRR PP Rr
Rose
Pp rr
Walnut
Pea
Rose
Single
Phenotypic ratio: 9 walnut : 3pea : 3 Rose :1 single
Typical dihybrict ratio (9:3:3:1) in case of a single character e.g. comb shape
poultry.
Duplicate gene action (15:1)
Duplicate dominant epitasis
Characters showing duplicate gene action are determined by two completely
dominant genes. These dominant genes produce the same phenotype whether they are
alone (i.e. with the recessive allele of the other gene) or together, the contracting
phenotype is produced only when both the genes are in the homozygous recessive.
Parents
DW1DW1 DW2Dw2 X
Non floating
Gametes
floating
DW,DW
2
F1
dw1dw1 dw2dw2
dw1
dw2
Non floating
O
DW1 DW2
DW1 DW2
DW1 DW1
DW1 dw2
DW1 DW1
dw1 DW2
DW1 dw1
dw1 dw2
DW1 dw1
DW2 DW2
DW2 dw2
DW2 DW2
DW1 dw2
DW1 DW1
DW1 DW1
DW1 dw1
DW1 dw1
DW2 dw2
dw2 dw2
DW2 dw2
DW2 dw2
DW1 Dw1
DW1 dw1
DW1 Dw1
dW1 dw1
DW2 DW2
DW2 dw2
DW2 DW2
DW2 dw2
DW1 DW1
DW1 DW1
dw1 dw1
dw1 dw1
DW2 dw2
dw2 dw2
DW2 dw2
dw2 dw2
DW1 dw2
dw1 DW2
dw1 dw2
: floating
eg. CC rr) or both the genes ( eg., cc RR) or R (eg. CC rr) or both the genes (eg. cc rr)
are present in homozygous recessive condition, purple flower colour as a result of
which white flowers are obtained.
Therefore complementary gene action modifies the typical 9:3:3:1 ratio in to a
9:7 ratio in F2
Parents
CCRR
Purple
Gametes
ccrr
White
CR
cr
F1
CcRr
Purple
O
CR
DW1 DW2
CCRR
DW1 dw2
CCRr
dw1 DW2
CcRR
dw1 dw2
CcRr
Cr
CCRr
CCrr
CcRr
Ccrr
cR
CcRR
CcRr
ccRR
ccRr
cr
CcRr
Ccrr
ecRr
ccrr
W
P
W
P
W
P
P- Purple
W- white
Phenotypic ratio
: 9:7
Purple
: White
unable to produce any colour and Pr does not produce any colour. The remaining one
zygote will be homozygous recessive for both the genes ( rr pr Pr0 and will produce
white seed. As a resoult, the 9:3:3:1 ratio is modified into 9 puple : 3 red : 4 white
parents - (purple) RR Pr Pr x rr Pr Pr ( white)
Gametes
RPr
rpr
F1
Rr Pr pr
Purple
O
RPr
RPr
RRPrPr
RPr
RRPrPr
rPr
RrPrPr
Rpr
RrPrPr
RPr
RRPrPr
RRPrPr
RrPrpr
Rrprpr
rPr
RrPrPr
RrPrPr
rrPrPr
rrPrPr
rpr
RrPrpr
Rrprpr
rrPrpr
rrprpr
R
P
W
P
W
R
P
produces the contrasting phenol The second dominant gene has 20 effect of its
own on the character in question. However it has the ability to stop the expression of
the dominant allele of the first gene. As a result when the two dominant genes are
present together they produce the same phenotype as that produced by the recessive
homozygote of the first gene. The recessive allele of the second gene does not affect
the development of the character in any way. Then in inhibitory gene, one dominant
gene is capable of producing a character only if its to expression is not preventeel by
another dominant gene known as inhibitory gene and denoted by I. The 9:3:3:1 ratio is
modified to 13:3 ratio in to care.
An example of inhibitory gene interaction occurs in the development of
aleuronic colour is maize. A dominant gene R produces red colour, while its recessive
allele r produces no colour. Another dominant gene I does not produce any colour by
itself, it only percents the colour production by R, when both I and R are present
together. The recessive allele I does not affect in any way the colour production in
maize aleurone. As a result, red colour (or any other colour) in alewone is produced
only when R is present with the homozygous recessive state of the inhibitory locus
(e.g. RRii)
Parents
RR
Gametes
ii
II
Red
White
R
i
rI
Rr Ii
F1
rr
White
O
RI
RI
RRII
Ri
RRIi
Ri
RRIi
rI
RrII
Ri
RrIi
Rrii
rrIi
rrii
RRiI
RrIi
rI
RrII
W
RrIi
W
RrIi
W
Ri
RrIi
W
Rrii
R
rrIi
W
W= White
R = Red
Fig: inhibitory gene action for seed colour in maize modifying to dihybrid ratio
of
When the dominna talleles of B and Y are present together, both the genes
express thselves. Howerver, the black colour produced by gene B is so intense that it
does not permit the detection of yellow colour produced by to Y gene.
Parents
BB
yy
bb
YY
Black
yellow
B
y
b
y
Gametes
F1
BbYy
Black
O
BY
BY
BBYY
By
BBYY
bY
BbYY
by
BbYy
Bbyy
bbYy
bbyy
By
BBYy
B
BByy
B
BbYy
B
bY
BbYY
B
BbYy
B
bbYy
Y
by
BbYy
B
Bbyy
B
bbYy
Y
recessive
Gametes
AA
BB
aa
bb
Long own
Own less
A
B
a
b
F1
AaBb
Long own
O
BY
By
bY
by
BY
BBYY
By
BBYy
bY
BbYY
BbYy
bbYy
by
BBYy
L
BByy
M
BbYY
L
BbYy
BbYy
L
Bbyy
bbYy
M
BbYy
Bbyy
bbYy
bbyy
more
characters. ( round / wrinkled seeds, yellow and green, cotyledons, green and
yellow puds).
Classification is based on the contrasting characters.
Carried out the experiments care and elaborateness.
Formulated appropriate hypotheses on the basis of the explanation.
On the basis of the findings, mendel proposed the first of the two fundamental
principles of genetics, the law of segregation. The law of segregation can be
explained more clearing the by making the following supposition.
1. A character is produced by a specific gene.
2. Each gene has two alternative forms these form are known as alleles.
3. The two alleles of gene govern the development of contrasting forms of the
characters governed by the gene.
4. Each somatic cell of an organism has two coping of each gene.
Therefore
Parents
WW
Round
Wrinkled
Gametes
F1
Gametes
Phenotypic
ratio:
O
W
Was
Round
3 Round : 1 Wrinkled
W
WWO
Genotypic
ratio :
1WW: 2Ww : 1ww
ww
WwO
Ww
ww
ii. Each gene exists in two alternative forms called alleles, which govern the
contrasting forms of a character.
iii. The genes are particulate so that the two alleles a gene do not modify teach
other when they exist together in the same cell.
iv. Each somatic cell has two copies of a gene ( identical or distilment alkles)
while gamets have only one copy.
v. The alleles of a gene separate and pass into different gamets of the hybrid.
vi. Genes are the units of inheritance passed from one generation to the next.
Genetic explanation for independent assortment, depicted diagrammatically as
follows,
Parents
WWGG
Round yellow
wwgg
wrinkled, green
W
G
Gametes
w
g
F1
W
G
WwGg
Round yellow
W
G
W
G
W
G
WG
Wg
wG
Wg
WG
WWGG
(RY)
WWGg
WwGG
WwGg)
Wg
WWGg
WWgg
Wwgg
Wwgg
wG
WwGG
WwGg
wwGG
wwGg
wg
WwGg
Wwgg
Wwgg
Wwgg
(RY)
(Ry)
(Ry)
(RY)
(RG)
(RY)
(RG)
(Ry)
(RY)
(WY)
(Wy)
(RY)
(RG)
(wy)
(WG)
Characters
Multiple alleles characteristic features, study of blood group, coat colour in rabbits
and self incompatibility in plants.
Generally assumed that a gene has two alternate forms called alleles.
One of the two alleles of a gene is dominant over the other, which is recessive.
Many cases, several alleles of a single gene are known, each governing a
distinct form of the concerned trait.
This situation is called multiple allelism.
The many alleles of a single gene are called multiple alleles.
Examples of multiple alleles
ABO blood group in man
Fur colour in rabbit
Self incompatibility in plants
Wing type in drosophila
Eye colour in drosophila etc.
Ccch, Cch,
Cca
chch
chc
cc
Agouti This has full colour and is also known as wild type. This colour is
dominant over all the remaining colour and produces agouti colour in F1 and 3:1 ratio
in F2 when crossed with any of the other three colored rabbits. C represents this
colour.
Chinchilla This lighter than agouti. This colour is dominant over Himalayan
and albino and produces chinchilla in F1 and 3:1 ratio in F2 when crossed either
Himalayan or albino . This is represented by cch
hh allele produces a temperature sensitive form of tyrosinase involved in
production of malaria ( shin and hair pigment).
Dominance relationship ( > ch > ch > c.
Agouti
Chinchilla
Himalayan
(C)
(cch)
(ch)
Albino
(c)
Thus the variation in fur colour in rabbits is due to multiple alleles of a single gene.
2. ABo Blood group in man
Antibodies are a class of proteins, referred as immunoglobulins. It is usually
found in the serum or plasma. Each antibody molecule has antigen binding sites.
Antibodies are produced by B lymphocytes. All the antibody molecules produced by
a single lymphocyte have the same antigen binding specificity. Every individual has a
highly heterogenous population of lymphocytes.
The presence of antibody can be demonstrated by its specific reaction with an
antigen.
Antigen An antigen refers to a substance or agent, which, when introduced into
the system of a vertebrate animal like cow, goat, man etc induces the production of
specific antibody, which binds specifically to this substance. Antigens are located in
the red blood corpuscles ( RBC). If a person has a particular antigen in his RBCs; his
serum has usually antibodies against the other antigen. In human RBC two types of
antigens viz A and B are present. Depending upon the presence or absence of antigen
A and B, the blood group in man is of four types vi A,B,AB and O. A person with
blood group A has antigen A on the surface of RBCs; persons with blood group B will
have antigen B; those with blood group AB have antigens A and B; and those with
blood group O have no antigen on the surface of their RBCs.
Blood
Genotype
Group
A
B
AB
O
A A
I I ,I i
IBIB, Ibi
IAIB
Ii
Recent studies show
Antigen
Antibody
Compatible blood
found
present
B
A
None
AB
group
A and O
B and O
A,B,AB,O
O
A
B
AB
None
Antibodies A B AB and None are naturally present in the serum of individuals having
A,B,AB, and O blood group respectively. The agglutination or coagulation of RBCs
lead to clotting of blood due to interaction between antigen and antibody.
The blood group B cannot be retransferred to an individual having blood group
A, because the recipient has antibody against antigen B, which is present on the RBCs
of blood group B. Similarly the reverse transfusion is not possible. The blood group
AB does not have antibody against antigen A and B. hence individuals with AB blood
group can accept all types of blood, viz, A,B, AB and O. Such individuals are known
as universal acceptors or recipients. The O blood group does not have any antigen and
has antibody against antigen A and B. It can not accept blood group other than O
Individuals with blood group O are known as universal donors, because transfusion of
blood group O is possible with all the four blood types.
Genotypes of progenies obtained due to crosses between various self sterility
types of Nicotiana.
Seed parents
S1S2
S2S3
Pollen parent
S1S2
S2S3
S3S2
S3S4
S3S1
S4S5
S4S1
S3S1
S3S2
S4S2
S4S1
S5S1
S1S2
S4S2
S4S2
S5S2
S4S2
S1S3
S4S3
S4S3
S5S2
S3S4
S1S3
S2S3
S5S3
S5S2
S1S4
S2S
S5S4
S2S3
S4S5
S2S4
S1S4
S2S4
S3S4
S1S5
S2S5
S3S5
S2S4
S3S4
S2S5
S3S5
These genes do not show dominance; so that the heterozygote for a colour gnee
e.g. R1r1 is intermediary in colour between the two homozygotes (R 1R2 and
r1r2). This may be stated little differently two positive alleles of a colour gene
( R1R1) produce tince the intensity of red colour of that produced by a single
positive allele ( R1r1)
iv.
Each of these genes ( positive alleles) has a small, equal almost equal, effect
on seed colour.
v.
The effects of positive alleles of different colour genes are additive in the small
manner as these of the two positive alleles of a single colour gene. Thus, the
intersity of the seed colour depends on the number of positive alleles of all the
genes affecting seed colour present in a seed and not on which of these genes is
present in the positive or the negative form.
In other words, a character is governed by several genes; the positive alleles of
all the genes governing the train are similar to each other in their action ( effect) and
that their effects are additive or cumulative in ratare. This is the essence of multiple
factor hypothesis.
X
R1R1R2R2
Parents
R1r1r2r2
R1
Gametes
Red
r1r
R2
F1
R1r1R2r2
Medium red
R1
R2
R1r
R1
R2
r1r2
White
R1R2
R1r2
R1 R2
R1R1R2r2
R1r1R2R2
R1r1R2r2
Dark red
Medium red
Medium
dark red
Medium red
R1R1R2r2
R1R1r2r2
R1r1R2r2
R1r1r2r2
Medium
dark red
Medium red
Medium red
Light red
R1r1R2r2
r1r1R2R2
r1r1R2r2
Medium
Dark red
Medium
Dark red
Medium red
Light red
R1r1R2r2
R1r1r2r2
r1r1R2r2
r1r1r2r2
Medium
Dark red
Light red
Light red
white
R1R2 R1R1R2R2
R1r2
R1R2 R1r1R2R2
R1r2
r1r2
Dark red
Medium
Medium red
Light red
White
ype
Genotyp
(i) R1R1R2R2
dark red
(i) R1r1R2R2(
(i) R1r1R2r2(4)
(i) R1r1r2r2(2)
(i) r1r1r2r2
(ii)
(ii)
(ii) r1r1R2r2(2)
and
(4)
frequenc
y
Posit..
Phenoty
pe
frequenc
y
2)
(ii)
(i) 4
R1R1
R1R1r2r
(2)
R2r2(2)
(i) 3
r1r1R2R2 (1)
(i) 1
(ii)
(i) 2
(ii) 1
(1)
(i) O
(ii)
(iii)
LR
2
6
(DR)
(MDR)
(MR)
Poly genes :Genes having individually small but cumulative effect on a character they
govern quantitative character.
Transgressive segregation :The appearance of individuals in the F2 or a subsequent generation which
exceed the parental limits with respect to one or male characters.
Modifying gene :A gene that increase the phenotypic expression of a major gene; usually,
several modifying genes act in an additive manner and generate a continous variation
in an otherwise qualitative trait.
Quantitative characters Vs qualitative characters
The two characteristic feather of quantitative character are
i.
Continuous variation
ii.
iii.
Quantitative characters are heritable and their inheritance follows the same
medallion principle. Which was developed for qualitative
characters
Synteny
Coupling:
In linkage, the dominant alleles of two or more genes present in the same
chromosome and hence, linked together; contributed by the same parent.
Linkage :
A the tendency of genes to stay together during inheritance, due to the genes
being located relatively close to each other in the same chromosome. Produces typical
distortion of test cross ratio ( of F1 ratio as well )
In maize, a dominant gene C produces colourred seeds, while its recessive
allele C determines colourless seeds. Another dominant gene Sh gonerns full seeds,
whereas its recessive. Allele sh gives rise to shrunken seeds. When plant shaving
coloured full seeds.
(CCSH Sh) were crossed with those having colourless shrunken seeds ( cc sh &
h), F1 seeds were coloured full (Ca Sh & h). Out of 8, 368 seeds obtained from the
test cross ( Ca Sh sh), 4032 ( 48.2%) were coloured full, 4.035 (48.3%) colourless
shrunken, 149 ( 1.7%) were coloured shrunken and 152 (1.8%) were colourless full.
Clearly, the four phenotypic classer coloured full and colourless shrunken had much
higher frequencies than the expected 25%. These two character combinations.
(Coloured full and colourless shrunken) are referred to as parental combinations,
parental phenol types or parental types since they are the character combinations
present in the two parents (of the F1 used for the test cross). The remaining two
phenotypic classes, coloured shrunken and colourless full, are far less than frequent
than expected (25%) these two phenotypes are called recombinant phenotypes or
recombinant types since they are generated by a reshuffling of the characters of the
two parents (of the F1 used in testcross).
In the above example, it appears as if the two dominant genes, C and Sh have a
strong affinity for each other so that the frequencies of coloured full and colourless
shrunted phenotypes are greater than expected. This situation is referred to as coupling
phase, and due to the presence of the dominant
chromosome.
Coloured full
Colour less
shrunken
C
Parents
sh
sh
sh
sh
C
sh
Gametes
e
sh
C
F1
sh
C
Colourless shrunken (Test cross
sh
parent )
sh
C C
Sh
C
sh
C
sh
C
Coloure
d sh
Shrunk
en
4,032
(48.2%)
Parenta
l type
sh
Sh
Sh Sh
C
Sh
C
Sh
C
sh
C
Coloure
sh
d
full
149
(1.7%)
C
sh
C
sh
Coloure
d
Shrunk
en
152
(1.8%)
Recombinant
types
C
Sh
C
sh
C
sh
Coloure
d
full
4,035
(48.3%)
Parenta
l type
C
Sh
Repulsion:
A linkage between the dominant alleles (s) of one ( on more) gene (s) and the
recessive allele (s) of another (several the) gene (s). In such a case, one parent
involved in a cross combination contributes the dominant allele of one or (more) gene,
while the second paran provide, the dominant allele (s) of the other gene (s).
Repulsion phase
Coloured
shrunken
Colour less
full
C
Parents
sh
sh
sh
Gametes
sh
C
sh
E
sh
sh
e
Coloured full
sh
Test
cross
C C
Sh
Sh
sh
C
Colourless shrunken (Test cross
sh
parent )
Sh Sh
C
sh
Gametes
C
sh
Testers
progeny
C
Coloure
d sh
Shrunk
en
21,379
(47.9%)
Parenta
l type
C
Sh
C
Sh
C
sh
C
Coloure
sh
d
full
639
(1.4%)
C
sh
C
sh
Coloure
d
Shrunk
en
672
(1.5%)
Recombinant
types
C
Sh
C
Sh
C
sh
C
sh
Coloure
d
full
21,906
(49.1%)
Parenta
l type
Types of linkage
The linkage may be classified as (1) complete or (2) incomplete depending
upon the absence (compiete linkage) or the presence ( incomplete linkage) of
recombinance phenotypes in a test cross progeny
Complete linkage (lack of crossing over) is known is male drosophila.
When males heterozygous for two linked aulosomal genes are mated with
douple recessive
femals, only the two parental character combinations (only those present into the two
parents of the helerozygous male) are recovered in the progeny; and there is a
complete absence of the recombinant types. This absence of recombinants is due to
the absence of crossing over in male.
Drosophila:
In most other cases, however, linkage as rule is incomplete. But some genes
may be so closely linked that they may show a very low frequency of recombination.
Such genes are called fighting linked.
Crossing over significance of crossing over cytological proof for crossing
over- sterns experiment.
Crossing over:
Significance of crossing over:After the second dission of meiosin two of the four resulting cells will contain
chromosoms with the recombination of genes brought about by the crossing over of
the chromosoms. In this way, new combination of linked genes occur.
Cytological proof of crossing over:Since linked genes are located in the same chromosome, they would show
recombination only when there is exchange of the concerned segments between the
homologous chromosomes i.e., crossing over.
Morgan had arrived at the conclusion in 1911 based on genetic studies and
theoretical considerations.
Experimental evidence corroborating this conclusion was presented in 1931
independency by curt sterm in drosophila and by creightom and medintock in maize.
The expected results from the experiment
of in drosophila
+
+
Red Bar
Car
B
Carnatio
n
normal
designed to
Car
B
Crossing
Over
Car
+
Car
Gamete
s
Car
+
B
+
+
Stern used a drosophila femalw in which one X chromosome was shorler then
normal; this chromosome had the recessive gene car ( Carnation eye colour) and the
dominant gene B ( bar eye shape). The other x chromosome of this female was of
normal lengths, but a segment of the Y chromosome was translocated into its short
arm; this chromosome had the dominant gene car + ( wild type allele of car, producing
dull red eye colour) and the recessive gene b+ ( wild type allele of B, producing
normal ovate eye shape). Storm test crossed the female to a car B+ male. As expected
the following four types of flies were recovered in the test cross progeny. Red, normal
( Car+ B+); red, bar ( Car+B) carnation, normal c car B+) and carnation, bar (Ccar B;
alleles contributed by the test cross parent are not shown.
Two of the four phenotypes viz red normal and carnation bar, are non- cross
over or non recombinant types. Therefore, the carnation bar individuals are expected
to carry one short X, while the red normal one would have one long x with a Y
segment. In contrast the remaining two phenotypes viz., red bar and carnation normal
are cross over or recombinant types.
Stern observed a very also correspondence between the expectations described
above and the results actuating obtained. He concluded as follows
1. During m.. there is a exchange of precisely homologous
chromatic
and male them with males which are homozygous for the double
recessive. You may remember that this is what we call a test cross. If these two genes
are on different chromosomes we will expect a ratio of approximately graph long; 1
black, vestigial ; 1 black long; 1 gray vestigial on the basis of independent assortment.
The actual results however are as follows.
Wild type (gray, long)
965
Black vestigial
944
Black long
206
Gray, vestigial
185
2300
Total
Parented
recombinations
chromosome; that is, they are linked. The ratio is about 1:1 for the parental types, with
a lower recombinations which have resulted form crossing over.
The percentage of crossing over which is obtained between different linked
genes various according to the distance between the genes on the chromosomes. It is
evident that crossing over will not produce new combinations of genes unless it occurs
between the linked genes. Hence those genes which are closest together on the
chromosome will have the least amount of crossing over between them and
correspondingly greator amount of crossing over will be found between genes that are
farther apart. The % of crossing over therefore indicates the relation distance between
the linked genes being studied.
Double cross over:In linkage, the recombinant type produced by simultaneous crossing over on
both sides of a gene; it is the least frequent class in the test cross progeny of a three
point cross.
The linkage studies on the genes for black body and vestigial lings in
Drosophils showed about 17% crossing over. Let us make other crosses to accept this,
when we cross a black cinnabar fly with one of the wild type of the opposite sex and
test cross the offspring, it is to find 9%crossing over and 9.5% crossing over when
cinnabar vestigial
fly with a wild type fly and followed by test cross. This
discrepancy is due to the occurrence of double crossing over, that is, two cross over
occurring simultaneously in the same cell between these two loci.
If the genes studied are aloes together on the chromosome, however double
crossing over cannot occur between them. If a crossing over occurs at one point, a
second cross over will not occur within a certain distance of it. This phenomenon to
known as interference.
Coeffiueint of Interference
The observed frequencies of double cross overs are lower then that expected
values.
This is interpreted as follows:- the occurrence of crossing over in one region of
a chromosome interferes with its occurrence in the neighbouring segments: this is
called interference.
Coefficient of coincidence:The estimate of coefficient of coimidence indicating the degree of agreement
between the observed and the expected frequencies of double cross overs.
Two point test cross:
The percentage of crossing over between two linked genes is calculated by test
cross in which a F1 dihybrid is crossed with a double recessive parent. Such crosses
because involve crossing over at two points, so called two point test cross.
three point test cross.
As three point test cross or tre hybrid test cross ( blousing three genes) gives
us information regarding relative distance between these genes and also shows us the
linear order in which these genes showed be present on chromosomes. Such a three
point test cross may be carried out if three points or gene lou on chromosome pair can
be identified by marker gene.
Chromosome mapping / genetic map
In any organism, when a sufficient number of genes have been located, it is
possible to construct chromosome maps which show the number of chromosomers,
the linkage group associated with each pair of chromosomes, the sequence of genes on
each of the chromosome pairs, and the relative distance between the genes on each of
the chromosome pairs.
Sex determination chromosomal mechanism of sex determination and its
types. Geric balance theory of sex determination of Bridges.
In most cases, male and female individuals differ for many characteristic
features which may be grouped into two categories;
1. Primary and
2. Secondary sex characterization
Primary sex character gonads :Gamete producing organs og male and female individuals.
Secondary sex characters :The development of secondary sex character is indeed by hormones produced
by the somatic elements of gonads.
Chromosomal mechanism of sex determination and its types
i. Ina vast majority of animals, male and female individuals ordinary differ from
each other in respect of either the number or the morphocogy of the
homologues of one chromosome pair, the chromosome is regered to as sex
chromosome or allosome.
ii. On the other hand, those chromosomes whose number and morphology do not
differ between males and femals of a species are called autosomes.
iii. The two types of sex chromosomes, X and Y.
The X chromosomes is found in both males anafemaless although on sex has
only one, while the other has two X chromosomes. Eg., of Y chromosome occurring
species, O ., Drosophila , humans etc.,
The different mechanisms of chromosomal sex determination may be grouped
into five classes.
i.
XX female
XO male
ii.
XO female
XX male
iii.
XX female
XY male
iv.
XX male :
XY female
v.
then one Y
chromosomes. However most animal species have only one pair of sex chromosomes.
XX female, XO male
In grasshopper, Protenor and many other insects, especially those belonging to
orthoptera, femals have two
chromosome.
Consequently, the somatic cells of females have one chromosomes more then
those of males.
During cogenesis, the two X chromosomes in female pair regularly and in AI,
the two X chromosome separate and pass to the opposite poles. Thus each of the four
eggs produced by one meiotic
XX
XO
Female
Gamet
es
Progen
y
X
X
Female
Male
O
X
O
Male
Grass
hipper
Heterogametic
sex
Parents
XO
XX
Male
Female
X
X
Gamet
es
Prop.
X
X
Male
X
O
Female
XX
Female
Gamet
es
Progen
y
X
X
Female
XY
XY
Male
Female
X
Y
Male
XX
Male
Human
X
Y
X
X
Male
X
X
Y
Femal
e
Bird
XY female, XX male
This system of sex determination operates in birds, reptiles, some insects e.g.,
silk works etc., This scheme is essentially. The opposite of that found in mammals
etc. Here, the femals have XY chromosome constitutionl therefore it is the
heterogametic sex as half the eggs have an X, while the rest hve a Y chromosome.
The male of these species have two X chromosomes ( XX); as a result, male is the
homogametic sex since all the sperms produced by males, have one X chromosome.
Fertilization of an X containing egg with a sperm gives rise to an XX zygote, . Which
develops into a male. An XY zygote is produced when a Y containing egg is fertilized
by a sperm, such a zygote develops into a female.
Diploid (2n) female, Haploid (n) male
This system of sex determination of found mainly in Hymenoptera : honey bee,
anto , termites. In these species the somatic
Sex indeed
Number of X chromosomes (= X)
Number of auto somel sets (- A)
X/A
Individuals with the sex index of 1.0 are normal females irrespective of
whether they are XX, XXX or XXXX. Similarly, flies having the ax index of 0.5 are
normal males ( xo and xxoo, xxyy and xxy tetraploid flies). Those flies that have a
sex index between 1.0 and 0.5 develop into inter sexes. An excess of sex index of 1.0
called super females.
Sex expression in drosophila as a function of the ratio of the number of X
chromosomes and the number of autosomal sets present in an individual.
(Sex expression in drosophila as a function of the ratio of X chromosomes and
the number of auto somal sets present in an individual).
(sex ratio = X/A)
Ploidy
Number of X Number
2n
3n
3n
2n
4n
3n
2n
4n
3n
of Sex
chromosomes
(=X)
3
4
3
2
3
2
1
2
1
( =4)
2
3
3
2
4
3
2
4
3
3/2=1.5
4/3=1.33
3/3=1.0
2/2=1.0
=0.75
2/3=0.67
=0.5
2/4=0.5
1/3=0.33
Super female
Super female
Female
Female
Intersex
Intersex
Male
Male
Super female
chromosome which occur in different numbers in the two sexes ( x), one sex and only
x in the other
Or the association between a character and the sex during inheritance, the
concerned genes is located in the X chromosome; in human beings, several genetic
diseases are sex linked.
Characteristics of sex linked inheritance
The characteristic features of inheritance of a sex linked. Trait may be
summarized as follows.
1. The frequency of individuals showing a recessive sex linked trait is markedly
higher in the heterogametic sex than that in the homogametic sex. Dr. Vs, red
green colour blind human males is 8% as compared to only 0.5% females
showing this trait.
2. Ordinary, genes governing sex linked traits are not transmitted from male
parents directly to their male progeny. For eg. white eye gene (w) is not
transmitted from male drosophila to its male progeny. This is because male
individuals receive their x chromosome from their mothers; their male parents
contribute only the Y chromosome.
3. A male transmits its sex linked genes to all its daughters, since females receive
one of their two x chromosomes from their fathers. The daughters in farm
transmits this gene to half of their male progeny.
Thus, a sex linked recessive gene is transmitted from a male, to its female
progeny and then to half the male progeny of send females. In other words sex linked
genes passes from male to female then back to male; such an inheritance pattern is
known as criss cross inheritance.
4. Sex linked genes are not located in the Y chromosome. Consequently, the
heterogametic sex (male humans, mice, Drosophila etc., and female birds)
hemizygous for such genes, i.e. it has only one allele of sex linked gene.
Therefore, recessive allele of sex linked genes express themselves in a
hemizygous condition.
5. Genes located in the region of the X chromosome is homologous to a segment
of the Y chromosome do not show sex linked inheritance if their allele is
located in the Y Chromosome.
Suicidal
Vital
Vital
Vital
Lethal ( all dies)
Sex- expression
Female
Male
Hermaphrodite
1
Maize plants are generally monoecism; both male and female flowers are
produced on the same plant.
Conversion of ordinarily monoecious plants into male and female plants
(dioecious) by two recessive genes ba and ts.
Genotype
Baba Ts Ts
ba ba Ts Ts
BaBa .. (Table
seed)
bs bs ts ts
Female flowers
Normal
Radimentary
Normal
Male flowers
Normal
Normal
Develop
Rudimentary
female flowers
Develop
into Female
( Barren silk)
Sex Expression
Monoecious
Male
tato Female
female flowers
Females
- 44 autosomes
4 x chromosomes
(ii).
Males
- 44 antosomes
2 x chromosomes
2 Y chromosomes
(iii).
Male
- 44 autosomes
3 x chromosome
1 y chromosome.
Hence, Y chromosome is the sex determining element and carious the genes to
produce maleness, that one Y chromosome, even in the presence of three x
chromosomes, is sufficient to produce a male.
Holandric genes: gene located on a Y chromosome.
Y linked gene.
In cytoplasmic
reciprocal crosses exhibit consistent differences for such characters, and there is lack
segregation
DNA). Available evidence shows that generally mitochondria from only one of the
parents are transmitted to the progeny. Therefore, characters governed by the genes
located in mt DNA show cytoplasmic inheritance. Cyplasmic male sterility.
Cytoplasmic male sterility ( Cms) is produced by plasma genes located in the
cytoplasm, which may be a part of mt- DNA, cp DNA and plasmid like elements of
mitochondria or may be produced by RNA various.
Cons show typical cytoplasmic inheritance progeny from cms and a normal
male fertile strain are all male sterile. As a result, a cms stain has to be pollinated by a
male. Fertile strain in every generation for its maintenance (ms in extensively used in
hybrid seed production in crops like maize, jowar, bajra etc.,
Parents
r
r
s
Male sterile
( A line)
r
r
Male fertile
(maintainer line)
B line
r
r
s
Male sterile
Progeny
r
r
Male fertile
X
r
r
s
Male sterile
r
r
Male fertile
Progeny
The same as before.
II.
by a dominant restorer gene R. In the presence of the recessive allele, r, cms produces
male sterility.
r
r
F
Male sterile
R
R
Plasmids
r
r
S
Male fertile
R
rS
s
Male sterile
Male fertile
plasmids . The R Plasmids are also called episomes and are genetic elements which
can exist in two alternative stages, independently in the cytoplasm and integrated into
the bacterial chromosomes.
The act of uniting with the chromosome is known as integration and the
recerse is excision. Bacterial plasmids take many from and are found in nature as sex
factors, colicin factors, phages and as R factors responsible for the transmission of
drug resistance Many of the properties of plasmids known to be stared with the extra
chromosomal DNA of eukaryotic cells.
DNA the genetic materials Griffith experiments Expt of A very, meleod and Mc
carthy, confirmation by Hershey and Chase, RNA as genetic material frankel, conrat
and singer experiment.
In 1903, Sutton and Boveri postulated genes were located in chromosomes,
this is known as the chromosomal theory of inheritance.
Properties of the genetic material :
The chemical of which genes are composed must possess the following
properties.
i.
ii.
iii.
Able to stage the highly variable information necessary for gene function.
iv.
Griffith experiment:
The experiments of Griffith are briefly described here. When live cells of the
virulent strain III R were injected into mice, they did not suffer from pneumonia and
all the mice died due to precumonia. But mice injected with heat killed cells of the
virulent strain III s. indicating that all the cells were killed by the heat treatment.
However, when mice were injected with a mixture of heat killed IIIs cells and live II R
cells, some of them died due to pneumonia. Diplococcus cells isolated from dead
mice were of the type III s. Since all the cells of the heat killed IIIs culture were dead,
it was postulated that some of the cells of II R had changed into the IIIs type due to
the influence of dead IIIs cells present in the onixture. This phenomenon was called
transformation, and that component IIIs cells which induce the conversion of IIR cells
into IIIs was named the transforming principle.
A.
B.
Injected into
mice
Strain III s
(Live)
Injected into
mice
Injected into
mice
C.
III s ( heat
killed)
D.
Strain II R
( Live)
Live II R
Isolated
Injected into
mice
Live II R
Some
mice
dead
From
dead
mice
Live III S
Cultur
e
In Petri
plates
Rough II R colonies
B.
Cultur
e
No Colony
C.
Strain III
S
D.
Cultur
e
No Colony
DNA is
olated from
IIIs cells
F.
Cultur
e
+ anti
body II R
G.
Live II R
Heat Killed
III S
+ Protease
Live II R
Live II R
+ R
Nase
IIIS
colonies
Cultur
e
+ anti
body II R
Cultur
e
+ anti
body II R
IIIS
colonies
IIIS
colonies
H.
+ D Nase
Live II R
Cultur
e
+ anti
body II R
No colony
Separati
on
A.
Reassociati
on n Crofecti
RNA
+
on
Strain A
TMV
Symptom
of strain A
TMV
Particles
B.
RNA
Infectio
n
C.
Strain B
TMV particles
Prokin
Symptom
of strain B
TMV
Particles
RNA
Hybrid
TMV
Infectio Sympto
n
m
of
strain
B
Hybrid
TMV
Infectio Sympto
n
m
of
strain
B
Strain B
+
RNA
Bobn.
Strain B
TMV
particles
Bobn.
Strain B
TMV
particles
It is evident from these findings that only RNA ( and not the protein) of TMV
has the capacity to produce the disease, and that the type of protein present in the virus
particles is defermered by the RNA. Clearly RNA is the genetic material in TMV also
function as the genetic material.
Pentose sugar
Nucleoside
Nitrogenous
Base
=
Nucleoside
Phosphate
Pentose
sugar
Nitrogenou
s Base
pyrimidney the total amount of adenine released is equal to the total amount of
thymine and similarly in ease of cytosine are equal to guanine.
e.g.
A-T
G-T
2.
3.
4.
5.
enzymatic degradation.
DNA
DNA is a polynucleotide comprising of fair types .
Nitrogenous base, adenine (A) and guanine are double ring componunds and
form purine where as thymine (T) and cytosine (C) are single ring compared
forming pyrimidines.
DNA sugar present in DNA is a pentose specially named B-D-2 deoxyribo
turanose which linked to nihogenow base on end, C 1-1 and phosphanic .. at
the other end of 31 or 51.
Phosphate molecule along with deoxyribose form the main back bone of the
DNA molecule.
The correct structure of DNA was first f. by J.D. Watson and F.H.C. crisk
in 1953. Their double helix stnicture of DNA was based on two major kinds of
evidences.
1. It was observed that the concentration of thymine was always equal to the con.
Of adenine. Similarly in case of cytosine and quinine. It indicates that thymine
and adinine as well as cytosine and quinine were present in DNA some fixed
relationships. It was ascertained that the total amount of pyrine concentration
are equal to the total amount of pyramiding concentration.
2. X-ray diffraction studies indicated that DNA was a highly ordered,
neultistranded structure with respecting substructures spaced every 3.4A o along
the axis of the molecule.
Postulates of weson and cricks model
DNA exists as double helix in which two polynucleotide chains are coiled
about one another in a spiral way.
Each polynucleotide chain consists of a sequence of nucleotides liked together
by phosphodiester lo joining adjacent deoxy ribose sugar moieties.
Two polypeptide chains are held together in their helical conformation by
hydrogen bonding between the two chains perpendicular to the axis of the
molecul like the steps of spiral stairease.
The base paring is specific, adenine always pairs with thomine and guanine
always with cytosine. These specific base pairing results from the hydrogen
bonding capacities of the bases in their normal configuration.
Adenine linked by thyamine in two H-bond Guanine linked by cytosine
for three H-bond.
The two DNA strands are said to be complemented i.e., if the sequence of
micleotides in one strand is known, the sequence of nucleotides other shand
can be accurately predicted due to this property of complementary.
The base pairs in DNA all stanted 3.4A o apart with 10 base paise in turn of
double helix.
The sugar phosphate (3) backbone of two complementary stands are
antiparalld.
One stand 3 OH
5-P
Another stand 5 P
31OH
31
51
A---T
G---C
A---T
3.4Ao[- - ----34Ao
10Ao
51
B1
20Ao
Types of DNA
Based on, number of residues per turn(n), the spacing of residues along
with the helices abrs(h), rotation of base pair, dinection of rotation, qrouke depth etc.,
Four type: A,B,C, and Z.
S.No
1.
Characters
A
Helix sense Right hand ( Rh)
B
Right hand Rh
2.
(Rh)
10
12
3.
turn
Helical dia 23oA
20Ao
19Ao
19oA
4.
meter
Shape
Broadest
Intermediate Inter
Most
5.
Major
6.
Minor
deep
deep
deep
Very broad and Narrow and Narrow and Vary narrow
7.
grooves
Conditions
shallow
70% Rh,
and Wide
quite deep
deep
High 92%
RH 62%
salt, condition
low ions
Z
Lh
elongate
& Flat
and deep
low High salt
ions
DNA replication
Thymine dimer is not removed by the nucleotide excision repair system, this
postreplication repair must be repeated after each round of DNA replication.
Error prone repair system
The DNA repair systems described so far are quire accurate. However, when the
DNA of E. coli cells is heavily damaged by mutagenic agents such as UV light, the
cells take some drastic steps in their attempt to survive. They go through the so called,
SOS response, during which a whole battery of DNA repair, recombination and
replication proteins are synthesized. Two of these proteins, encoded by the umu C and
umu D ( uv mutable genes), encode proteins that allow DNA replication to proceed
across damaged segments of template strands, even though the nucleotide sequences
in the damaged region cannot be accurately replicated. This error prone repair
system eliminates gaps in the damaged nucleotides in the template strands but, in so
doing, sharply increases the frequency of replication errors. The SOS response appears
to be a somewhat desperate and risky attempt to escape lethal effects of heavily
damaged DNA. When error phone repair system is operative mutation rates increase
sharply. Distinction can be made based on the pattern of methylation in newly
replicated DNA.
In E. coli, the A in GATC sequences is methlated subsequent to its synthesis.
Thus an interval occurs during which the template strand is methy lated and the newly
synthesized strand is unmethylated and the newly synthesized strand is unmethylated.
This mismatch repair system uses this difference in methylation state to excise the
mismatched nucleotide in the nascent strand and replace it with the correct nucleotide
by using the methylated parental strand of DNA as template.
Mismatch repair of DNA in E. coli requires the products of four genes, mutH,
mutL, mutS and mutU. The MutS protein recognizes mismatches and binds to them to
initiate the repair process. MutH and MutL proteins then join the complex. MutH
contains a GATC-specific endonuclease activity that cleaves the unmethylated strand
at hemimethylated GATC sites either 5 or 3 to the mismatch. The incision sites may
be 1000 nucleotide pairs or more from the mismatch. The subsequent excision process
requires MutS, MutL, DNA helicase II (MutU) and an appropriate exonuclease. If the
incision occurs at GATC sequence 5 to the mismatch, a 5` - 3` exonuclease like E.
coli exonuclease VI is requied. If the incision occurs 3` to the mismatch, a3-5`
nuclease activity like that of E. coli exonuclease I required. After the excision process
has removed the mismatched nucleotide from the unmethylated strand,
polymerase fills the gap and DNA ligase seals the nick.
DNA
present. DNA polymerase then replaces the missing nucleotide according to the
specifications of the complementary strand, and DNA ligase seals the nick.
Nucleotide excision repair
Nucleotide excision repair removes larger lesions like thymine dimmers and
bases with bulky side groups from DNA. In nucleotide excision repair, a unique
excision nuclease activity produces cuts on either side of the damaged nucleotide(s)
and excises an oligonucleotide containing the damaged base9s). This nuclease called
an exinuclease to distinguish it from the endonucleases and exonucleases.
The nucleotide excision repair in E. coli needs the products of three genes,
uvrA, uvrB and uvr(fig). A trimeric protein containing two UvrA polypeptides and one
UvrB polypeptide recognizes the defect in DNA, binds to it and uses energy from ATP
to bend the DNA at the damaged site. The UvrA dimer is then released and the UvrC
protein binds to the UvrB-DNA complex, The UvrB protein cleaves the
phosphodiester bond from the damaged nucleotide(s) on the 3 side, and the UvrC
protein hydrolyzes the phosphodiester linkage from the damage on the 5 side. The
uvrD gene product, DNA helicase II, releases the excised di-decamer. In the last two
steps of the pathyway, DNA polymerase I fill in the gap, and DNA ligase seals the
remaining nick in the DNA molecule.
Mismatch repair
The mismatch repair is carried out by the 3 -5 exonuclease activity built into
DNA polymerase. DNA polymerase proofreads DNA strands during their synthesis,
removing any mismatched
Mismatches often involve the normal four bases in DNA. For example, a T may be
mispaired with a G. Because both T and G are normal components of DNA, mismatch
repair systems need some way to determine whether the T or G is the correct base at a
given site. The repair system makes this distinction by identifying the template strand,
which contains the original nucleotide sequence, and the newly synthesized strand,
which contains the misincorporated base (the error). This occasional mistakes that
occur during replication. DNA repair / damage can occur as the result of exposure to
environmental stimuli such as alkylating
dimmers in DNA in the dark, but it cannot catalyze cleavage of the bonds joining the
thymine moieties without energy derived from visible light specifically light within
blue region of the spectrum.
Excision repair
Excision repair of demaged DNA involves at least three steps. In step1, a DNA
repair endonuclease or endonuclease containing enzyme complex recognizes, binds
to, and excises the damaged base or bases in DNA. In step 2, a DNA polymerase fills
in the gap by using the undamaged complementary strand of DNA as template. In
stept 3, the enzyme DNA ligase seals the break left by DNA polymerase to complete
the repair process. There are two major types of excision repair base excision repair
systems remove abnormal or chemically modified bases from DNA, whereas
nucleotide nucleotide is added it supplies another free 3 OH group.
The primer for both leading and lagging strand synthesis is a short RNA
oligonucleotide that consists of 1 to 60 bases; the exact number depends on the
particular organism. This RNA primer is synthesized by copying a particular base
sequence from one DNA strand and differs from a typical RNA molecule, in that after
its synthesis the primer remains hydrogen bonded to the DNA template. In bacteria
two different enzymes are known that synthesis primer RNA molecules RNA
polymerase and Primase. The DnaB protein complex moves along the other pare ntal
strand, prepriming it so that primase will synthesis a primer RNA. Pol III holoenzyme
adds nucleotides to the primer, thereby synthesizing a precursor fragment. This
synthesis continues up to the primer of the preceding precursor fragment.
Apart from this function, DNA polymerases also has 3-5 exonuclease, 5-3
exonuclease and endonuclease activity and so they can perform nick translation and
strand displacement. By nick translation the RNA is removed and replaced by DNA is
removed and replaced by DNA. Once the RNA is gone, DNA ligase seals the nick,
thereby joining the precursor fragment to the lagging strand. Pol II moves back along
the DNA ( in the direction of advancement of the fork) until it encounters the next
primer and the process continue again and again.
Since each strand has 5 P terminus and 3- OH terminus, strand growth is
said to proceed in the 5-3 direction (Fig). The advance of the replication fork
continues until replication is completed. An unsolved question is how the reates of
growth of the leading and lagging strands are coordinated.
Termination
In a unidirectionally replicating molecule, replication terminates at the origin.
In bidirectionally replicating molecule, it may be of two types: 1 there might be
definite termination sequence 2. Two growing points collide and termination occurs
where ever the collision point happens to be.
Replication in Eukaryotes
The complete mechanism of initiation, elongation and termination of linear
DNA molecule and chromatin replication has not yet been elucidated. However, it is
believed that there might be multiple replication forks exist during replication.
Similarly different isoforms of DNA polymerases have been identified in eukaryotes
with specific function.
Fidelity of DNA replication
There is no single molecule whose integrity is as vital to the cell as DNA. Thus,
in the course of hundreds of millions of years there have evolved efficient systems for
correcting the..
DNA Replication
Genetic information is trnaferred from parent to progeny organisms by a
faithful replication of the parental DNA molecules. At the biochemical level,
replication is defined as a template directed nucleic acid synthesis reaction where
the template and nascent (growing) strand are the same type of nucleic acid.
unchanged and gets passes to one daughter cell, whereas newly synthesized DNA gets
passed to the other. But in dispersive replication, new DNA synthesis is interstitial
(small openings), and each daughter cell receives a mixture of parental and newly
synthesized DNA.
In a third, semi conservative model, proposed by Watson and Crick, the
parental strands remain unchanged, but the duplex is sperated into two halves. Each
parental strand acts as a template for replication and the daughter duplexes have one
parental strand and one daughter strand each. The semi conservative model holds for
cellular DNA, but the single stranded genomes of viruses and some plasmids replicate
conservatively the structure of the single parental strand is conserved following
replication.
Ordinarily, the term regulation of gene action is exclusively applied to the regulation
of transcription.
Regulation of translation
The modes of translation regulation may be
eategories based on the nature of repressor and the net results produced.
1. A protein or proteins coded by in RNA binds to a site on the mRNA and
prevents its translation, thereby blocking its own synthesis.
e.g. Proteins of ribosomes(auto genous repression )
Ribosomal
protein
operon
or RNA
gene
RNA
RNA
Translation
Normall
y
Ribosomal
proteins of or
proteins
accumulate Cr
RNA not available
Ribosomal proteins
Assembled
into
ribosomes
RNA for
ribosomal
proteins
No translation
The ribosomal protein quickly associate with r RNA and together become
assembled into ribosomes. But when r proteins accumulate due to the non- availability
of r RNA for ribosome assembly.
2. A protein binds to its own mRNA or to some other component of the protein
synthesis machinery this leads to the rapid degradation of mRNA, b- tabulins
utilized for the assembly of microtubules.
3. A short stretch of RNA pairs with the mRNA by complementary base pairing
and prevent its transcription.
The r proteins bind to the upstream region of their own m RNA; the interaction
prevents the translation of mRNA.
The operon concept:
An operon is a group of structural genes whose transcription is regulated by the
co-ordinated action of a (i) regulator (2) a promoter (p) and (3) an operator (o) gene.
The regulator gene produces a protein known as repressor which binds to the operator
gene.
The regulator gene produces a protein known as repressor which binds to the
operator gene. The operator gene is located at the beginning of the operon from which
the transcription begins an dis continous iwht the structural genes transcribed first i.e.
it is just upstream of the first structural gene. The promoter gene is located fast
upstream of the operator and provides the binding site for RNA poly merase which
carries out transcription.
Only the DNA strand oriented in the 3 to 5 direction the initiation point
( promoter) is transcribed by RNA polymerase; This strand is known is the antisense
strand. The base sequence of the antisense strand is complementary to that of the
RNA produced by the gene. The DNA strand oriented in the 5 to 3 direction is not
transcribed and is designated as the sense strains. The base sequence of sense strand is
the same as that of the RNA produced by the gene.
The perons
relationship among the gnes of the operon. In a compact operion all the genes of the
operon (regulator, promoter, operator and structural) are located in a single region of
the chromosome next to each other. E.g. the lac operon.
Split gene, Introm, exons, modern concept of gene cistron, muton, recon
complementation test.
The members of multiple alkali series are located in a single gene ( multiple
alkali series) or in two or more separate but closely linked genes producing a single
character (pseudo alkali series0 is generally based on
(i)
Recombination
Thus, the gene may now be defined as a segment of DNA which codes
( contains the information) for a single polypeptide (the functional unit). At the
operational level, the alleles of a single gene do not show complementation in a as
trans test while those of different genes show complementation.
In trons and Exons
The genes contains sequences call exons (expressed sequences) and nitrous
(intervening sequences).
Exons all the sequenced that form the mature RNA and , as a result are
represented in the proteins coded by the concerned genes.
In contrast the intones are deleted during mRNA processing and are not
represented in the concerned proteins.
Intron
G OH
P
Exon A
Exon B
GP
OH
Exon A
P
G-----P
Exon B
Spliced exons
OH
GP-+ P
Circulated intron
The excision of intones and the joining together of all the exons of a
gene in a proper sequence to yield the mature RNA is called splicing.
The two boundaries between the two exons and the intron lying between
then are known as splicing junction.
Gene
B
Gene
A
Gene
B
a1
a1 a2
++
Normal
character
a2
+
+
Cis- heterozygote
Normal
character
a1
a1 +
Trans heterozygote
+
a2
b1
By comparing the phenotypes produced in cis and trans heterozygote for any
two mutant alleles it is located in the sance gene or in two different genes. They are
placed in the same gene if their cis heterozygotes produces the wild type phynotype.
White their trans heterozygotes have a mutant phenotype. But if both their cis and
trans heterozygotes have the type phenotype, they are considered to be located in
two different genes.
The production of wild type phenotype in a trans heterozygote for two mutant
alleles is known as complementation and such a study called complementation test.
The results from complementation tests are precise, highly reliable and they
permit an operational demarcation of genes as follows, mutant alleles located in the
same gene do not show complementation, while those located in different genes show
complementation. Benzer proposed the term citron since the delineation of a gene is
based on complementation test, which is the trans portion of the cis trans test.
Semester : II
Time : 1 hr
Date: .
b. 2n=26
c.2n=28
d.2n=22.
b. 2n=6x=42
c.2n = 8x =42
d. 2n=3x=42
b. Caryopsis
c. Nut
d. Schizocarp
b. Elensine coracana
c. Setaria italica
d. Triticum aestivum
b. Papilonaceae
c. Asteraceae
d. Solanaceae
b. Zea mays
c. Triticum aestivum
d. Oryza sativa
b. papilonaceous
c. gamosepalons
d. polysepalous.
b. Cross pollinated
b. Vigna radiala
c. Vigna ungliculata
d. Glycine max
b. 15:1
c. 63:1
d. 9:6:1
b. genome
c. Allelomorph
d. geno type
A14. Homozygous
a. Two copies of the same allele
b. One copy of the same allele
c. Two copies of different allele
d. More than two copies of the same allele
A15. Dihybrid linkage ratio will be
a. 9:3:3:1
b. 1:1:1:1
c. 15:1
d. 3:1
PART B
State True or False (Answer all the questions)
15x0.5=7.5
5x1=5
strand). On the lagging straw short DNA fragment must be made by a backstitching
process. Because, the self correcting DNA polymerase cannot start a new chain, these
slapping strand DNA fragments are prioned by short RNA primer molecules that are
subsequenting erased and replaced with DNA.
DNA replication requires the cooperation of many protein. These include (i)
DNA polymerase
for phosphate
polymerization (2) DNA helicases and single strand DNA binding (SSB) protein to
help in opening up the DNA helix so that be copied (3) DNA ligase and an that
degrades RNA prisoners to red to gether the discontinuously synthesed lagging stand
DNA fragments and (4) DNA topoisomerases t help to relieve helical windly and
DNA tangling
replication fork to form a highly efficient replication machine through which the
activity and the spatial moments of the individual components are coordinated.
DNA, the genetic materials Griffith experiment, experiment of avery, mxlesid
and earth.
DNA
Deoxyribonucleic Acid is the genetic
organisms including plant, animals and even some plant viruses. The criteria of being
a genetic
material are specific and important for its functional life and stable
transmission.
The various erecteria, requirements for any meterials being genetic materials
are as follows.
1. It must contain biologically useful informstion that is maintained in a stable
form.
2. It must be reproduced and transmitted from cell to cell (or) generation to
generation.
3. It must be able to express itself so that other biotogical molecules will be
produced and maintained.
4. It must be capable of variation i.e. it should accept some minor variation such
change helpful for evolution of cell, organisms to new form.
Experiment proof to show that DNA is genetic material
F. Griffith experiment ( 1928)
He
122------------------ Picture
The incubated R cells in the presence of highly purified DNA fraction obtained
from type S- III bacteria, and some virulent type S- III bacteria were recorded from the test
tube.
If the type S- III DNA fraction was first treated with beoxyribonuclease, , an
enzyme that degrades DNA, no transformation of R cells occurred in subsequent
experiment.
Present interpretation of the experiment is that purified S III type DNA is capable
of entering the R II cells and recombining with R II DNA to produces small number of
living smooth, virulent S- III type recombinant colonies. So DNA was attributed the role
of transforming principle.
Living R II type
Mibed together
Only R Ii
type
colonies
No colony
reconnected
Transformation
occurred
Stain A TMV
parkeles
Infection
+
Protein
Symptom
of strain
A
Separation
Infection
Symptom
of strain
B
Infection
Symptom
of strain
A
Infection
Symptom
of strain
B
+
Stain B
Protein
Separation
RNA
+
Stain A
Protein
Separation
RNA
+
Stain B
Protein
CHROMOSOME
History
Holfmiester (1884) He was first observed dark, rod like bodies in nuclens.
E. strasburger ( 1875) discovered thread like structure which appeaed in
cell division.
W. Waldeyer (1888) coired the term chromosome.
Occurrence
Chromosomes are found in all living i.e. plants, Animal fungi, bacteria and
viruses. In all higher plant sand animals ( Eukaryotes) chromosomes are condensed
material found in nucleus, whereas in lower torms ( prokaryotes) chromosomes are
represented by loosly coiled a packed DNA thread present in the cell.
Numerology
Chromosome number is fixed for a species , the lowest number is seen in
Haplopappas gracilis ( 2r=4) and maximum of 2n = 1656 in some ophiolosum species.
S.No
1.
2.
3.
Organisms
Human ( Homo sapiens)
Canis familaris (oog)
Drosophila Melenogaster
Chromosome
46
78
8
4.
5.
6.
(fruit fly)
Pisum sativum ( Pea)
14
Zea mays ( Maize)
20
Sacctraum
afficinarum 80
Number (2n =)
( Mustard)
Size of chromosome
Size
1 micron
3 micron
2 micron
200 micron
Example
Fungi
Drosophila
Human beings
Chironomou (Polytene chromosome)
Karyotype
Symmetric
Primitive type
Ex. Pinus species
Asymmetric
Advanced type
Ex: Horno sapiens
Karuptype
The diagrammatic representation and arrangement of all chromosomes
according to their size is called as karyotype.
Idiogram
Diagrammatic representation according to their decreasing size is called as
Idiogram.
Structure of chromosome
Chromosome consists of following structure are as follows.
1. Centromere
2. Secondary construction
3. Nucleolar organizers
4. Telomeres
5. Satellites DNA.
Centromere
The joining position of two arms of a chromosome, which is darkly stained
body important for chromosomal movement during cell division. As the spindle fibus
join a proleineous body sumounding centromere called kinetochore. The position of
centromere differ based on chromosome.
Based on position of centromere, chromosome may be of following type
1. Metacenbic ( Centromere at central position)
2. Sub metacenbic (Centromere slightly towards one of the arms).
3. Areocentric ( Centromere at sub terminal position)
4. Telemetric ( Centromere at terminsl site)
Secondary constriction
Each chromosome has got a centromere ( primary constriction), but in some
cases besides primary there is another constriction called secondary construction it
helps in identifying
chromosome in human.
Nucleolar Organizer ( Secondary constriction I )
Two
constrictions called as. Nucleolar organizer. As they play an important role in the
formation of nucleus known as nucleolar organizer.
Satellite DNA
The segment of the chromosome bey and nucleolar organizer look like a
know like structure called a satellite DNA.
It has found in 13, 14, 15, 21, 22 and Y chromosome show nucleolar organizer
and satellite structures.
Centromer
e
Centromer
e
Telomeres
The tips of the chromosome are called telomeres. Telomeres are different in
structure and composition from rest of the chromosome. Telomeres are unique in their
function that they present the two chromosome from sticking to each other. Telomere
DNA
Histone
protein
Nucleosome
Chromoso
me
Nucleosome
Linker DNA
honoloyous chromosome having few points of contact ( or) chiasmata. Under light
microscop each chromosome is seen to consists of an axis along which is a row of
dense granules or chromosome. From each chromosome arise lateral loops.
Lamphrush chromosome consists of following sub structure
(i). Chromosomal axis
(ii). Chromere
(iii). Loops
This inversion
Lateral loop
Chromo mere
Thick
inversion
Chiasmata
Polytene Chromosome
Polytene chromosome
tubules of many insects of dipteral. This chromosome was first discoved by kollar
The polytene chromosome by drosophila the total length of about zoom.
Structure of polytene chromosome
(i). Bands and interbands
It bears light and douk bands along their length. The dark bands takes deep
colour by basic chromosomal studies. The disc shaped structures and occupy the
whole chromosome.
The light band take lisp chromosomal stains. These are febrile composed
heterochromatin.
Chromonemat
a
Dark
band
Light band
Chromosoms
puff
Chromoretia
ta
Linter band
Dark band
Balbiani
ring
Functions
The putts are related with synthesis of RNA and protein because, besides DNA
and proteins these contains large amount of RNA. The putts are chiefly mutable
activity of chromosome because of high con. RNA.
Variation in chromosome structure deletion and duplication genetic and
cytological implications. Inversion and translocation genetic and cytological
implication.
Homologous chromosomes contain an identical number and kind of genes in
the same sequence. Occassionally, spontaneous (without any known causal factor)
variation in chromosome number or structure do arise in nature; these variations are
called chromosomal aberrations.
Classes (i) structural and numerical
There are four types of structural aberrations
(i) Deletion or deficiency
(ii) Duplication or repeat
(iii)
Inversion and
(iv)
Translocation
Deletion ( a deciease)
Duplication ( an increase)
Inversion ( change the gene sequence)
Translocation - (affect the kind of genes located in the affected chromosomes )
1.
2.
Deletion
Terminal
Interstitial
Duplication -
1. Tandem duplication
same.
2. Reverse duplication
3. Displaced duplication
4. Translocation
duplication
Invession
(i) . Paracentric
(ii). Pericentric
Translocation :-
1. Simple translocation
2. Reciprocal translocation -
Deletion
Genetic effects:
(i)
Generally
produce
some
stricking
genetic
and
morphological
consequences.
(a)
(b)
(c)
(d)
(e)
Duplication: Cytology
(i). Relatively larger duplication are detectable due to the presence of loops formed by
the duplicated segment during pachyletic stage.
(ii). Crossing over in the duplicated regions produces a dicentric chromosome, which
are likely to give rise to a bridge breakage function cycle.
Chromosomes of Diptera
Genetic effects:Some duplication may have district phenotypic effects and may be regarded as
a mutant allele. E.g. Bar duplication in Drosophila.
Mutations in a duplicated locus are toleracted by the organism since there still
remains one unaltered copy of the concerned gene in the genome to perform its
normal function. Thus all new low which have developed during evolution may well
owe their origin to gene duplication.
Inversion:Genetic and cytological effects :
(i)
either phenotypically
heterozygotes ( individuals
having one inverted and one normal homologue) generally exhibit parted
male sterility.
(ii)
Linkage map of the strain with that of the normal strain provides conclusive
evidence for the existence of inversion.
(iii)
inversion.
(iv)
(v)
Translocation: Genetic effects:The phenomenon of transolocation was first discovered in 1923 by pridges in
Drosaphils. Through genetic analysis of a shift of a segment from chromosome Ii into
chromosome II it produced phenotypic effects as well as lethality ( Recersive).
Cytology:In transolocation homozygote, normal bivalents formed and no detectable
cytogenetic peculiarity ( except for a possible change in chromosome morphology)
due to translocation).
Type of change
Symbol
Change from the 2x state
One or a few chromosomes extra or 2n + few
missing from 2n
Nullisomic
2n-2
Monatomic
2n-1
Double monatomic
Trisomic
2n+1
Double transonic
2n+2
Euploid
Monoplood
Haploid
Gametic chromosome
number of the x
Term
1. Auto poly ploid
Type of change
More than two copies of the same
Auto triploid
Auto tetraploid
Auto pentaploid
Auto hexa ploid
Auto octa ploid
2. Allo polyp lord
genome present
Three copies of the same genome
Four copies of the same genome
Five copies of the same genome
Six copies of the same genome
Eight copies of the same genome
Two or more distinct
Symbol
3x
4x
5x
6x
Sx
(2x, +2x2)**
Allo hexaplolid
Alloocutaplod
copies
Four distinct genomes; each has two
(2x, +2x2
copies.
+2x3+2x4)**
meiotic irregularities,
Non- disjunction or lagging of one chromosome, occur spontaneously, in
low frequencies and produce n +1 and n-1 gametes.
(iii)
When such gametes unite with normal ( n) gametes, 2n+1 and 2 n-1
individuals are obtained.
5. Progeny from a cross betweentetrasomic (2n = 2) and destine plants show a high
frequency of transmits.
(i) Poly ploid auto and allopolyploids
(ii) Role of poly ploidy in evolution of crops wheat, cotton, tobacco and brassica.
(iii)
polyploidy.
If all the geames present in an individual are identical, it is called
autopolyploid. But in an allopolyploid, two or more district genomes are present.
Segmental allopolyploidy:Genomes present in an individual may be ony parpally differenciated
( partially homologers)
Amphidiploids:
Naturally occurring allopolyploids ordinarily contain two copies of the each of
the genomes present and they show normal bivalent formation.
Auto polyploids produced through
Chromosome doubliny through
(i) Unreduced (2n) gametes produced spontaneously which ( yield tetraploid
zygotes).
(ii) Somatic cells going rising to teltra ploid buds.
(iii)
(iv)
(v)
(vi)
(vii)
Genetic effects:
(i) In many species, auto polyploids show an increase in general vigour and six,
the phenomenon is known as gigatism.
(ii) Some species relatively weaker and smaller in size.
(iii)
Leaves of autopdyploids are larger and thicker, fruits flowers, seeds are
larger, but their number is so
(iv)
(v) Cells, pollen grains and stomata of autopolyploids are relatively larger than
those of diploids.
(vi)
(vii)
Cytology
In triploids, the three homdogues for each chromosome from either a trivalent
or a bivalent and a univalent.
During AI, ( Anaphase I) the disjunction of trivalents and the distribution of
univalents is irregular producing a range of anenploid gametes.
As a result, triploids produce a range of aneuploid progeny. E.g. trisomic,
double trisomic etc., Highly sterite in bahana, watermelon, fertile in spinach 9
Spinacea devalla).
Role in Evolution:Sutopolyploidy has contributed to a limited extent in evolution of
plant
species. Potato ( 4x) peacit (4x) coffec ( 4x) Lucerne (4x) banana ( 3x), sweet potato
(6x).
Allo Polyploidy:-
( hybrid between two district species); such allopolyplids are often known as
synthetic allopolyplids.
Experimental production of an allopolyploid
Parental
species
Genomes
Triticum turgidum
Secale
AA BB
RR
A
B
Gametes
ABR
Colchicine
(Chromosome
doubling)
AA BB
RR
Amphieliploid
Triticale Hexapodies
(Allohexaploid)
cereal
Two distinct
species are
hybridized
Fertile
allopolyplod
(amphidiploids) species
distinct from the two
parental species)
Role of evolution :Allopoly ploids have been more successful as crop species than autopolyploid.
Origin of wheat:Parents
Genome Triticum
Monococum X
Aegilops
AA
Gametes AB
speltoides
BB
B
A
Doubling
AABB
I.
Diccocu
m
AB
Aegilops
DD
Squarrosa
D
ABD
Doubling
AA BB
DD
Triticum
aestivum
(Bread wheat)
Origin of cotton ;
The upland cotton, Gossipier hissutum is an auto tetraploid . It has B large and
13 small chromosomes in its haploid complement ( = 26)
G. Lirsutum is the hybrid between
G. herbaceum var. africannum ( old would cotton)
( = 13 small chromosome)
X
G. Raimondi ( Amerikan diploid cotton)
( = 13 large abromosome)
Origin of Tabacco
Similarly nicotiama tabacum and Nicotiana rustica are also allotetraploids, each
having 24 chromosomes in their haploid complements Qn-48). Available evidence
indicates that N. tobacum is an amphidiploids derived from the cross N. Sylvestris x
N. tomentosa, each of the parental species having 12 chromosomes their haploid
complaments.
Origin of Brassica species
Several of brassica e.g. B. Junea, b. rapus and B. carinata are tetraploids.
B.nigra
=8
(BB)
B.carinat
e
= 17
(BBCC)
B.juncea
= 18
(AA BB)
3. Festaca lolium hybrids and the triploid (AAC) obtained by crossing B. napus
(AA CC) with B. compestics (as a fodder crop).
Other Application
1. The genetic base of B. napus widened by synthesizing from the parental
species (B. oleralea X B. compestris).
2. Bridging species between two diploid species which do not cross with each
other & with Fx hybrid is sterile.
N. Sylvestris
N.digluta
N. tabacum
In this way, resistance to tobacco mosai virus ( TMV) was transferred from N.
syluestris to N. tabacum by using N. digluta
( amphidiploids)
F1 ( Partially
fertile) as a bridging species.
Refer for RNA types , protein synther characteristies of actual deegma origin
of aneuploid.
Synapsis.