lecture 18 genetics. outline recombination – crossing over basic genetic concepts genetic terms...
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Outline Recombination – crossing over
Basic Genetic concepts
Genetic terms (Genotype, Phenotype, F1…)
Genetic Tools (Punnett Squares, Probabilities, Pedigrees)
Review Alleles – different versions of the same gene
Maternal Allele – the version of the gene from your mother
Paternal Allele – the version of the gene from your father
Independent Assortment Homologous pairs of chromosomes orient randomly at metaphase I of meiosis
Each pair of chromosomes sorts maternal and paternal homologs into daughter cells independently of every other pair
Independent Assortment The number of combinations possible when chromosomes assort independently into gametes is 2n, where n is the haploid number
For humans (n = 23), there are more than 8 million (223) possible combinations of chromosomes
Figure 13.10-1
Possibility 1 Possibility 2
Two equally probablearrangements ofchromosomes at
metaphase I
Figure 13.10-2
Possibility 1 Possibility 2
Two equally probablearrangements ofchromosomes at
metaphase I
Metaphase II
Figure 13.10-3
Possibility 1 Possibility 2
Two equally probablearrangements ofchromosomes at
metaphase I
Metaphase II
Daughtercells
Combination 1 Combination 2 Combination 3 Combination 4
Followed by Random Fertilization
Crossing Over Crossing over produces recombinant chromosomes, which combine DNA inherited from each parent
Crossing over begins very early in prophase I, as homologous chromosomes pair up gene by gene
Crossing Over In crossing over, homologous portions of two nonsister chromatids trade places
Crossing over contributes to genetic variation by combining DNA from two parents into a single chromosome
Figure 13.11-1Prophase Iof meiosis
Nonsister chromatidsheld togetherduring synapsis
Pair of homologs
Figure 13.11-2Prophase Iof meiosis
Nonsister chromatidsheld togetherduring synapsis
Pair of homologs
Chiasma
Centromere
TEM
Figure 13.11-3Prophase Iof meiosis
Nonsister chromatidsheld togetherduring synapsis
Pair of homologs
Chiasma
Centromere
TEM
Anaphase I
Figure 13.11-4Prophase Iof meiosis
Nonsister chromatidsheld togetherduring synapsis
Pair of homologs
Chiasma
Centromere
TEM
Anaphase I
Anaphase II
Figure 13.11-5Prophase Iof meiosis
Nonsister chromatidsheld togetherduring synapsis
Pair of homologs
Chiasma
Centromere
TEM
Anaphase I
Anaphase II
Daughtercells
Recombinant chromosomes
Summary of genetic variation Three mechanisms contribute to genetic variation
◦ Independent assortment of chromosomes◦ Crossing over◦ Random fertilization
Figure 13.7-3
Pair of homologouschromosomes indiploid parent cell
Duplicated pairof homologouschromosomes
Chromosomesduplicate
Sisterchromatids Diploid cell with
duplicatedchromosomes
Homologouschromosomes separate
Haploid cells withduplicated chromosomes
Sister chromatidsseparate
Haploid cells with unduplicated chromosomes
Interphase
Meiosis I
Meiosis II
2
1
Figure 14.2
Parentalgeneration(P) Stamens
Carpel
First filialgenerationoffspring(F1)
TECHNIQUE
RESULTS
3
2
1
4
5
Figure 14.3-2
P Generation
EXPERIMENT
(true-breedingparents)
F1 Generation(hybrids)
Purpleflowers
Whiteflowers
All plants had purple flowersSelf- or cross-pollination
Figure 14.3-3
P Generation
EXPERIMENT
(true-breedingparents)
F1 Generation(hybrids)
F2 Generation
Purpleflowers
Whiteflowers
All plants had purple flowersSelf- or cross-pollination
705 purple-flowered
plants
224 whiteflowered
plants
Terms Trait/Phenotype/Genotype
Generations: Parental, F1, F2
Self pollination vs Cross pollination
True breeding
Hybrid
Mendel’s Model Mendel developed a hypothesis to explain the 3:1 inheritance pattern he observed in F2 offspring
Four related concepts make up this model
We now know the molecular explanation for this model
1st Concept To Explain 3:1 Pattern in F2 generation
First: alternative versions of genes account for variations in inherited characters
One Gene: Purple flower – White Flower
These alternative versions of a gene are alleles
Each gene resides at a specific locus on a specific chromosome
Figure 14.4
Allele for purple flowers
Locus for flower-color gene
Allele for white flowers
Pair ofhomologouschromosomes
2nd Concept To Explain 3:1 Pattern in F2 generation
Second: for each character (phenotype), an organism inherits two alleles, one from each parent
The two alleles at a particular locus may be identical, as in the true-breeding plants of Mendel’s P generation
Alternatively, the two alleles at a locus may differ, as in the F1 hybrids
3rd Concept To Explain 3:1 Pattern in F2 generation
Third: if the two alleles at a locus differ, then one (the dominant allele) determines the organism’s appearance, and the other (the recessive allele) has no noticeable effect on appearance
In the flower-color example, the F1 plants had purple flowers because the allele for that trait is dominant
4th Concept To Explain 3:1 Pattern in F2 generation
Fourth: The law of independent segregation: the two alleles for a heritable characteristic (phenotype) separate (segregate) during gamete formation and end up in different gametes
An egg or a sperm get only one of the two alleles
Allele segregation is because homologous chromosomes segregate during meiosis
Figure 14.7
Dominant phenotype,unknown genotype:
PP or Pp?
Recessive phenotype,known genotype:
pp
PredictionsIf purple-floweredparent is PP
If purple-floweredparent is Pp
or
Sperm Sperm
Eggs Eggs
or
All offspring purple 1/2 offspring purple and 1/2 offspring white
Pp Pp
Pp Pp
Pp Pp
pp pp
p p p p
P
P
P
p
TECHNIQUE
RESULTS
Figure 14.9
Segregation ofalleles into eggs
Segregation ofalleles into sperm
Sperm
Eggs
1/2
1/2
1/21/2
1/41/4
1/41/4
Rr Rr
R
R
RR
R
R
r
r
r
r r
r
Figure 14.8
P Generation
F1 Generation
Predictions
Gametes
EXPERIMENT
RESULTS
YYRR yyrr
yrYR
YyRr
Hypothesis ofdependent assortment
Hypothesis ofindependent assortment
Predictedoffspring ofF2 generation
Sperm
Spermor
EggsEggs
Phenotypic ratio 3:1
Phenotypic ratio 9:3:3:1
Phenotypic ratio approximately 9:3:3:1315 108 101 32
1/21/2
1/2
1/2
1/41/4
1/41/4
1/4
1/4
1/4
1/4
9/163/16
3/161/16
YR
YR
YR
YRyr
yr
yr
yr
1/43/4
Yr
Yr
yR
yR
YYRR YyRr
YyRr yyrr
YYRR YYRr YyRR YyRr
YYRr YYrr YyRr Yyrr
YyRR YyRr yyRR yyRr
YyRr Yyrr yyRr yyrr
Figure 14.UN02
Chance of at least two recessive traits
ppyyRr
ppYyrr
Ppyyrr
PPyyrr
ppyyrr
1/4 (probability of pp) 1/2 (yy) 1/2 (Rr)
1/4 1/2 1/2
1/2 1/2 1/2
1/4 1/2 1/2
1/4 1/2 1/2
1/16
1/16
2/16
1/16
1/16
6/16 or 3/8
The ability to curl your tongue up on the sides (T, tongue rolling) is dominant to not being able to roll your tongue. A woman who can roll her tongue marries a man who cannot. Their first child has his father's phenotype. What are the genotypes of the mother, father, and child?
What is the probability that a second child won't be a tongue roller?
Often inheritance patterns are more complicated
Many heritable characters are not determined by only one gene with two alleles
Basic principles of segregation and independent assortment apply even to more complex patterns of inheritance
Examples of single gene not following Mendelian patterns
Inheritance of characters by a single gene may deviate from simple Mendelian patterns in the following situations:
◦ When alleles are not completely dominant or recessive◦ When a gene has more than two alleles◦ When a gene produces multiple phenotypes
Degrees of Dominance Complete dominance: phenotypes of the heterozygote and dominant homozygote are identical
Incomplete dominance, the phenotype of F1 hybrids is in between the phenotypes of the two parental varieties
Codominance, two dominant alleles affect the phenotype in separate, distinguishable ways
Figure 14.10-2
P Generation
F1 Generation
1/21/2
Red White
Gametes
Pink
Gametes
CWCWCRCR
CR CW
CRCW
CR CW
Figure 14.10-3
P Generation
F1 Generation
F2 Generation
1/21/2
1/21/2
1/2
1/2
Red White
Gametes
Pink
Gametes
Sperm
Eggs
CWCWCRCR
CR CW
CRCW
CR CW
CWCR
CR
CW
CRCR CRCW
CRCW CWCW
Tay-Sachs disease is fatal; a dysfunctional enzyme causes an accumulation of lipids in the brain
◦ At the organismal level, the allele is recessive◦ At the biochemical level, the phenotype (i.e., the enzyme activity level) is
incompletely dominant◦ At the molecular level, the alleles are codominant
Multiple Alleles Most genes exist in populations in more than two allelic forms
The ABO blood group in humans are determined by three alleles
Single Gene codes for an enzyme that attaches a specific carbohydrate to the surface of the RBC ◦ IA allele – The enzyme adds the A carbohydrate◦ IB allele – The enzyme adds the B carbohydrate◦ i allele – Adds neither
Figure 14.11
Carbohydrate
Allele
(a) The three alleles for the ABO blood groups and their carbohydrates
(b) Blood group genotypes and phenotypes
Genotype
Red blood cellappearance
Phenotype(blood group)
A
A
B
B AB
none
O
IA IB i
iiIAIBIAIA or IAi IBIB or IBi
Pleotrophy Most genes have multiple phenotypic effects, a property called pleiotropy
Pleiotropic alleles are responsible for the multiple symptoms of certain hereditary diseases, such as cystic fibrosis and sickle-cell disease
Some traits may be determined by two or more genes
Epistasis In epistasis, a gene at one locus alters the phenotypic expression of a gene at a second locus
Labrador retrievers and many other mammals, coat color depends on two genes
One gene determines the pigment color (with alleles B for black and b for brown)
The other gene (with alleles C for color and c for no color) determines whether the pigment will be deposited in the hair
Figure 14.12
Sperm
Eggs
9 : 3 : 4
1/41/4
1/41/4
1/4
1/4
1/4
1/4
BbEe BbEe
BE
BE
bE
bE
Be
Be
be
be
BBEE BbEE BBEe BbEe
BbEE bbEE BbEe bbEe
BBEe BbEe BBee Bbee
BbEe bbEe Bbee bbee
Polygenic Inheritance Quantitative characters are those that vary in the population along a continuum
Quantitative variation usually indicates polygenic inheritance, an additive effect of two or more genes on a single phenotype
Skin color in humans is an example of polygenic inheritance