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Inheritance Related to Sex
Some Terminologies
Hermaphroditism: both sexes in the same
organism
Monoecious: both male and female reproductive
structures in the same organism
Dioecious: either male or female reproductive
structures in one organism
XX-XY system:
XX female
XY male
Example: some plants, insects, reptiles, and all mammals
Concept Check 1
How does the heterogametic sex differ from the
homogametic sex?
a. The heterogametic sex is male; the homogametic sex is
female.
b. Gametes of the heterogametic sex have different sex
chromosomes; gametes of homogametic sex have the
same sex chromosome.
c. Gametes of the heterogametic sex all contain a Y
chromosome.
d. Gametes of the homogametic sex all contain an X
chromosome.
Haplodiploidy system:
Haploid set male
Diploid set female
Examples: Bees, wasps,
and ants
Concept Check 2
What will be the sexual phenotype of a fruit fly with
XXYYY sex chromosomes and two sets of
autosomes?
a.
b.
c.
d.
male
female
Intersex
metamale
We have 46 chromosomes: 23
pairs, one set from each parent.
One pair of chromosomes is the
sex chromosomes, X and Y.
the other chromosomes just have
numbers: 1-22.
Meiosis
Reproduction involves putting one copy of each chromosome into each sperm cell
or egg cell: the process of meiosis. So, meiosis starts with 46 chromosomes,
chooses one from each pair, and puts 23 chromosomes in each sperm or egg.
For males, 1/2 the sperm get an X chromosome, and the other 1/2 get a Y chromosome.
Sometimes meiosis goes wrong (non-disjunction), and a sperm or egg might get 2
sex chromosomes, or 0 sex chromosomes, leading people with 47 or 45
chromosomes. More on this later...
Fertilization
Fertilization means the
sperm joins the egg,
creating the zygote,
which is the first cell of
the new individual
person.
23 chromosomes
from sperm plus 23
from the egg
restores the total of
46 chromosomes.
And, the new
individual is now
either 46,XX (female)
or 46,XY (male)
Y chromosome
Y chromosome
contains:
the malespecific region
of the Y (MSY)
a sexdetermining
region of the Y
(SRY)
Male
Sex-determining region of
the Y chromosome (SRY)
brings about development
of undifferentiated gonads
and testes
Fertilized by
Genetic
sex
Gonadal
sex
In presence of testicular
hormones, undifferentiated
reproductive tract and
external genitalia develop
along male lines
Female
No Y chromosome, so no
SRY. With no masculinizing
influence, undifferentiated
gonads develop into ovaries
No androgens secreted
Phenotypic
sex
With no masculinizing
hormones, undifferentiated
reproductive tract and
external genitalia develop
along female lines
Androgen insensitivity
XY males become phenotypic females
Pseudohermaphroditism
XY males at birth are phenotypically female;
at puberty develop a male phenotype
Variant Conditions
Chromosomal variations
Gene mutations
External conditions
Chromosomal Variants
47,XYY
47,XXX
About 1 in 1000 live female births. So mild
as to be only rarely detected. Also called
triplo-X.
Originally called superfemale (early
1960s). <rolls eyes>
Widely varying symptoms, including none
at all.
Slightly more passive and quiet as babies,
less assertive, delayed motor and linguistic
skills. Delayed emotional maturity and
social skills. Some have slightly decreased
intelligence and learning difficulties.
Mosaics and
Chimeras
Gene Mutations
The variants up to now all involve whole chromosomes, which have lots of
genes on them. The effects of changing the dosage of many genes tend
to be widespread but mild. (or completely lethal, as with most non-sex
chromosomes).
Now we are going to look at several gene mutations. In these cases, only
one gene is affected, but it is completely knocked out. This can lead to
large effects, but limited to a few subsystems in the body.
Rates are different: for chromosome changes, about 1 in 1000 births is a
typical frequency. For gene mutations, each parent needs to contribute a
mutated copy of the gene, so rates are usually 1 in 10,000 births or less.
Inheritance is also a factor here: most chromosomal variants are
spontaneous events and dont run in families. Gene mutations are usually
inherited variants: there is often a family/community history of the variant
type.
New mutations do occur spontaneously, but its rare. Most gene variants are
inherited from the parents.
Guevodoces Case
Androgen Insensitivity
CAH
Freemartin: usually seen in cattle: female and male twins, with testosterone
from male leaking over to the female due to a shared placenta. Normal
female appearance, but undeveloped ovaries and masculinized behavior.
Rare or unknown in humans.
Aldous Huxleys book Brave New World has human freemartins created
by hormone treatment of fetuses.
Dosage Compensation
Equalizes the amount of X
chromosome products in
both sexes
In XX females an inactivated
X chromosome forms a Barr
body in each cell
XY males do not contain
Barr bodies
Dosage Compensation
Lyon Hypothesis
One X chromosome is genetically active in the body cells;
the second is inactive and tightly coiled
Either the maternal or paternal chromosome can be
inactivated
Inactivation is permanent (reset in germ cells)
Inactivation of second X equalizes the activity of X linked
genes in males and females
Barr bodies
Active X
XX
XO
XXX
XXXX
EM of Barr Body
Fig. 7.17
X-Linked Characteristics
X-linked white eyes in Drosophila
Father = BB x Mother = BB
All offspring are BB
If you are male, then you will
be bald.
If you are female, then you will not be bald.
Peacock plumage
The plumage of a male peacock is highly
decorated and colored, while the plumage of a
female peahen is dull by comparison.
Sex-Influenced Traits
Expressed in males and
females
Usually controlled by
autosomal genes
Generally phenotypic
variations are due to
hormonal differences
between the sexes
An example is male
pattern baldness
Fig. 7.20
Chapter 7 Human
Heredity by Michael
Sex-influenced traits
Some autosomal genes govern traits that show up in
both sexes but their expression differs because of
hormonal differences
example: pattern baldness in males. b allele is recessive
in one sex and dominant in the other
Male
Female
b+/b+
non-bald
non-bald
b+/b
bald
non-bald
b/b
bald
bald
Chapter 7 Human
Heredity by Michael
Sex-Limited Traits
Genes that produce a phenotype in only one sex
Examples
Precocious puberty
Secondary sex characteristics
Chapter 7 Human
Heredity by Michael