Course Overview Chromosome theory of inheritance

http://www.erin.utoronto.ca/~w3bio/bio207/index.htm Outline Week 1 2 3 4 5 6 7 8 9 10 11 12 Topic Course objectives and Introduction to genetics Human Pedigrees Patterns of Inheritance: sex-linkage Chromosomal basis of inheritance Changes in chromosome number Gene Mapping Gene to Phenotype Modified Mendelian ratios Model organisms and mutants Genetics of Plant Development (Arabidopsis) Genetics of Animal Development (Drosophila) Behaviour Genetics/Quantitative genetics Chapter Ch. 1 & Ch. 2 Ch. 2 Ch. 2 Ch. 3 Ch. 15 Ch. 4 (Ch. 16) Ch. 6 Ch. 6 Ch. 6 (Ch. 16) Ch. 18 Ch. 18 Ch. 16 + papers

January 23

1:1 ratio?
What is the probability of having a boy? P (boys)= One report stated that for every 1000 boys born only 927 girls were born. Is this an equal sex ratio?
H0: based on Mendels first law of equal segregation the observed progeny fits a 1:1 ratio of girls : boys.

1:1 ratio?
What is the probability of having a boy? P (boys)= One report stated that for every 1000 boys born only 927 girls were born. Is this an equal sex ratio?
H0: based on Mendels first law of equal segregation the observed progeny fits a 1:1 ratio of girls : boys.

The distribution of boys and girls Sex O E (O-E)2 Girls 927 963.5 (-0.36)2 Boys 1000 963.5 (0.36)2

(O-E)2/E 1.38 1.38

The distribution of boys and girls Sex O E (O-E)2 Girls 927 963.5 (-0.36)2 Boys 1000 963.5 (0.36)2

(O-E)2/E 1.38 1.38

Other 1:1 ratios

H0: based on Mendels first law of equal segregation the observed progeny fits a 1:1 ratio of girls : boys. Chi-square = 2.76, df= 1, p>0.05, rejection level is p=0.05 Therefore we conclude that for 2 =2.76, df=1 we would expect a deviation from the 1:1 ratio at least this large would occur by chance alone more than 5% of the time so we fail to reject the null hypothesis that the observed ratio of progeny fits a 1:1 ratio of girls to boys.

Mendels laws
1. Law of Segregation: alternative trait factors that come together in the offspring separate again when the offspring produce gametes 2. The law of dominance: hybrids between two alternate forms of a trait resemble one of the parental types 3. The law of independent assortment: differences for one trait are inherited independently of differences for another trait

Mendels laws
1. Law of Segregation: alternative trait factors that come together in the offspring separate again when the offspring produce gametes 2. The law of dominance: hybrids between two alternate forms of a trait resemble one of the parental types 3. The law of independent assortment: differences for one trait are inherited independently of differences for another trait

Mendels laws
1. Law of Segregation: alternative trait factors that come together in the offspring separate again when the offspring produce gametes 2. The law of dominance: hybrids between two alternate forms of a trait resemble one of the parental types 3. The law of independent assortment: differences for one trait are inherited independently of differences for another trait

Independent segregation of gametes

Halving of gene pairs in gametes The members of the gene pairs segregate equally into the gametes The union of one gamete from each parent to form the zygote is random

Chromosomes and gametes

Text 74

Probability and pedigrees e.g.: albinism

Explain with diagrams how III-5 and III-6 could have an albino son. III-5 and III-6 are both heterozygous i.e. Aa. What is the genotype of the gametes produced by an Aa individual?

Probability and pedigrees e.g.: albinism

Explain with diagrams how III-5 and III-6 could have an albino son. III-5 and III-6 are both heterozygous i.e. Aa. What is the genotype of the gametes produced by an Aa individual?

Chromosome theory of heredity

William Sutton and Theodor Boveri proposed the chromosome theory of heredity: the idea that genes are parts of chromosomes. Some evidence that supported the theory:
Nuclei of egg and sperm are equal in size and contain coloured bodies that are easily visible during cell division The number of chromosomes is consistent from cell to cell within an organism but varies between organisms The behaviour of the chromosomes at meiosis correlates with the behaviour of Mendels hypothetical particles
Text p. 75

Chromosome theory of heredity

William Sutton and Theodor Boveri proposed the chromosome theory of heredity: the idea that genes are parts of chromosomes. Some evidence that supported the theory:
Nuclei of egg and sperm are equal in size and contain coloured bodies that are easily visible during cell division The number of chromosomes is consistent from cell to cell within an organism but varies between organisms The behaviour of the chromosomes at meiosis correlates with the behaviour of Mendels hypothetical particles
Text p. 75

Chromosome theory of heredity

William Sutton and Theodor Boveri proposed the chromosome theory of heredity: the idea that genes are parts of chromosomes. Some evidence that supported the theory:
Nuclei of egg and sperm are equal in size and contain coloured bodies that are easily visible during cell division The number of chromosomes is consistent from cell to cell within an organism but varies between organisms The behaviour of the chromosomes at meiosis correlates with the behaviour of Mendels hypothetical particles
Text p. 75

Evidence from chromosome segregation

Calvin Bridges hypothesis
If genes are located on chromosomes then unusual, unexpected genetic results should correspond to unusual, abnormal chromosome arrangements

Evidence from chromosome segregation

Calvin Bridges hypothesis
If genes are located on chromosomes then unusual, unexpected genetic results should correspond to unusual, abnormal chromosome arrangements

Working with Drosophila melanogaster Bridges noticed that among the progeny of the cross w/w;+;+;+ X +/Y;+;+;+ about 1 of 2000 was a white-eyed or a red-eyed !
Text p. 76

Working with Drosophila melanogaster Bridges noticed that among the progeny of the cross w/w;+;+;+ X +/Y;+;+;+ about 1 of 2000 was a white-eyed or a red-eyed !
Text p. 76

Drosophila
Drosophila melanogaster has 4 chromosomes: 1 pair of sex chromosomes and 3 pairs of autosomes semi-colons are used to indicate when genes are on different chromosomes
Eg: w;+;+;+
1;2;3;4 4 3 2 1

Drosophila
Drosophila melanogaster has 4 chromosomes: 1 pair of sex chromosomes and 3 pairs of autosomes semi-colons are used to indicate when genes are on different chromosomes
Eg: w;+;+;+
1;2;3;4 4 3 2 1

Morgans crosses
+/+ X w/Y w / w X +/Y

Calvin Bridges cross

w / w X +/Y

F1: red

F1: red : white F1X F1 gave red : white, 3:1 F1: red : white mostly

But the sex ratio for each eye colour was different F2: red : white F2: red : white F2: females but males 1:1 red:white F2: females AND males 1:1 red: white

Only males flies were white-eyed Text p. 78

Calvin Bridges cross

w / w X +/Y

Expected ratio of progeny

What is the expected ratio of progeny from the cross:
w/w X +/Y White-eyed females X red-eyed males ?

F1: red : white mostly

X+
Most red-eyed flies were female and white-eyed flies were male But occasionally there was a white-eyed female and a red-eyed male. Primary exceptional progeny occurred about 1 in every 2000 F1

Y Xw Y (white ) Xw Y (white )

Xw Xw Xw Xw

Xw X+ (red ) Xw X+ (red )

Text p. 78

Expected ratio of progeny

What is the expected ratio of progeny from the cross:
w/w X +/Y White-eyed females X red-eyed males ?

Primary exceptional progeny

How could Calvin Bridges explain the primary exceptional progeny: the whiteeyed female and red-eyed male?

X+ Xw Xw Xw Xw Xw X+ (red ) Xw X+ (red )

Y Xw Y (white ) Xw Y (white )
Text p. 79

Primary exceptional progeny

How could Calvin Bridges explain the primary exceptional progeny: the whiteeyed female and red-eyed male?
A rare non-disjunction event in the first or second meiotic division could result in nuclei that contained either two X chromosomes or no X chromosome

Text p. 79

Text p. 491

Sex determination
In Drosophila the number of X chromosomes determines sex:
1X:2A is male 2X:2A is female 2X:3A is intersex

Text p. 79

Drosophila 2n=8

Drosophila chromosomes

Text p. 87

Text p. 87

Chromosome: a single DNA molecule

Polytene chromosomes

Text p. 87

Chromatin
Chromatin: material of chromosomes composed of a mixture of DNA and protein Chromosomes exposed to Feulgen stain, a chemical that reacts with DNA, pick up the stain in particular patterns:
Euchromatin: stains less intensely and contains most of the active genes Heterochromatin: stains intensely and contains most of the satellite DNA (multiple tandem repeats of short nucleotide sequences).

Chromatin
Chromatin: material of chromosomes composed of a mixture of DNA and protein Chromosomes exposed to Feulgen stain, a chemical that reacts with DNA, pick up the stain in particular patterns:
Euchromatin: stains less intensely and contains most of the active genes Heterochromatin: stains intensely and contains most of the satellite DNA (multiple tandem repeats of short nucleotide sequences).

Chromosome staining
Giemsa reagent stains DNA and produces characteristic G-light or G-dark patterns for each chromosome
G-dark regions have a higher DNA density The density of active genes is higher in Glight bands

Chromosome staining
Giemsa reagent stains DNA and produces characteristic G-light or G-dark patterns for each chromosome
G-dark regions have a higher DNA density The density of active genes is higher in Glight bands

Text p. 86

Text p. 86

XY

XX

Meiosis

Meiosis

XX

Mitosis

Text p. 86

Size of chromosomes
Chromosomes can be differentiated based on size On a karyotype the chromosomes are arranged from largest to smallest and ending with the sex chromosomes In human karyotype ch-1 is the largest autosome

Text p. 84

Text p. 86

Size of chromosomes
Chromosomes can be differentiated based on size On a karyotype the chromosomes are arranged from largest to smallest and ending with the sex chromosomes In human karyotype ch-1 is the largest autosome

Centromere position
Centromere: the region of the chromosome that attaches to the spindle fibres The position of the centromere
Metacentric: in the middle Acrocentric: off centre Telocentric: at one end

In human chromosomes the smallest distance to the centromere is the p region, the larger distance to the centromere is the q region
Text p. 86

Text p. 86

Centromere position
Centromere: the region of the chromosome that attaches to the spindle fibres The position of the centromere
Metacentric: in the middle Acrocentric: off centre Telocentric: at one end

In human chromosomes the smallest distance to the centromere is the p region, the larger distance to the centromere is the q region
Text p. 86

Drosophila melanogaster
How would you classify the autosomes of Drosophila?

Nucleolar organizers
Nucleoli: organelles within the nucleus that contain ribosomal RNA Nucleolar organizers are regions of the chromosome that contain the genes for ribosomal RNA. In these regions the chromatin does not stain with normal stains

beads on a string?
Eukaryotic DNA is packaged into nucleosomes: histone and DNA String between the nucleosome beads is also DNA DNA replication involves copying the parental strands, disassembling the nucleosomes in the parental strands and reassembling them in the daughter molecules
Text p. 88

beads on a string?
Eukaryotic DNA is packaged into nucleosomes: histone and DNA String between the nucleosome beads is also DNA DNA replication involves copying the parental strands, disassembling the nucleosomes in the parental strands and reassembling them in the daughter molecules
Text p. 88

Chromosomes of tomatoes
How many chromosomes does a tomato have?
12

Chromosomes of tomatoes
How many chromosomes does a tomato have?
12

Where are the centromeres?

Constrictions between the dark regions

Where are the centromeres?

Constrictions between the dark regions

What is the dark region flanking the centromere of each chromosome?

heterochromatin
Text p. 130

What is the dark region flanking the centromere of each chromosome?

heterochromatin
Text p. 130

Genes and chromosomes

What is a gene?
Functional regions along the DNA molecule of a chromosome that are transcribed into RNA

Genes and chromosomes

What is a gene?
Functional regions along the DNA molecule of a chromosome that are transcribed into RNA

Even before the structure of DNA was elucidated it was thought that chromosomes represented large numbers of genes in a linear array

Even before the structure of DNA was elucidated it was thought that chromosomes represented large numbers of genes in a linear array

Text p. 130

Text p. 83

Introduction to genetic analysis

Griffiths, A., Wessler, S.R., Lewontin,R.C., Gelbart, W.M.,Suzuki, D.T. and Miller, J.H. Eighth Edition, W.H. Freeman and Company NY

Part I Transmission genetic analysis Chapter 1: all questions p. 24-26 Chapter 2: all the questions p. 62-72 Chapter 3: questions #1-12,18,19, 22, 25-27, 29, 30, 32, 40-42. Chapter 15: .

Text p. 83

Tutorials
You need to do the assigned questions at the end of each chapter covered As stated on the website you need to present a doctors note to the instructor within 48h of missing a quiz or a test If you have a legitimate reason for missing a quiz email IN ADVANCE NB. Academic conflict is NOT a legitimate reason for missing a quiz Late penalty is 20% per day for quizzes that are to be handed in to drop boxes.

Tutorials
You need to do the assigned questions at the end of each chapter covered As stated on the website you need to present a doctors note to the instructor within 48h of missing a quiz or a test If you have a legitimate reason for missing a quiz email IN ADVANCE NB. Academic conflict is NOT a legitimate reason for missing a quiz Late penalty is 20% per day for quizzes that are to be handed in to drop boxes.

Evaluation
Tutorial Quizzes/Assignments worth a total of 15% 4 Term Tests worth a total of 50%:
January 30 February 27 March 15 April 3

Final Exam worth 35%