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Variations on Dominance
Mendelian genetics : dominant allele requires only 1 copy to determine a phenotype ; masks expression of recessive allele recessive allele requires 2 copies to determine a phenotype ; expression masked by dominant allele crossing 2 monohybrid heterozygotes when dominance is complete gives a 3:1 phenotypic ratio sometimes this simple dominant-recessive relationship does not hold, and a heterozygous genotype does not always express a dominant phenotype
F2 Phenotypic ratio
Incomplete dominance : heterozygotes exhibit a phenotype intermediate to the phenotypes expressed by the two homozygotes
Incomplete Dominance
R1 : specifies red pigment R2 : specifies no color R1, R2 heterozygotes : lighter red because they have only 1 allele that produces color
Mendelian patterns of inheritance are still followed (1:2:1 ratio in F2), but phenotypes do not follow patterns of strict dominance
(type A)
(type B)
IA IA
x
(type AB)
IB IB
Phenotype includes both A and B simultaneously : codominance
F1 :
F2 :
100% IAIB
?
Analysis of the pedigree indicates that Tay-Sachs is inherited as an autosomal recessive trait
at the level of viability, shows Mendelian genetics of complete dominance (only homozygous recessive is not viable)
Figure 5.2b
The heterozygote individuals possess less activity than the homozygote dominant individual. The homozygous recessive individual exhibits no activity. at the level of enzyme activity, shows incomplete dominance
One variant in Tay-Sachs disease produces a protein smaller than the wild-type protein. Afflicted individuals (aa) produce only the smaller protein
Multiple Alleles
we have considered genes that have only 2 alleles a gene can have more than 2 alleles - diploid organism can have only 2 alleles, but many different alleles of any given gene can exist in a population polymorphic alleles
- in fact, multiple alleles are the rule rather than the exception
3 alleles : IA, IB, and i IA, IB : glocosyltransferase enzymes that make A and B structures on a sugar molecule (H structure) on RBCs i : nonfunctional enzyme (recessive to IA and IB)
Heterozygous mice reveal that the Aw allele is dominant to the other three agouti alleles
Testing Allelism
* There may be many different variations of the 2 alleles that code for a gene (such as with the gene for mouse fur color) * Also, mutations in different genes may cause similar or identical phenotypes To study how phenotypes are inherited, need to know which mutations are different versions of the same gene (alleles) and which are in completely different genes
ruby and scarlet are 2 different mutations of 2 different genes on different chromosomes, but they both produce a similar eye color
: mutation
wild-type
Cross flies with homozygous recessive mutations, examine progeny : 1) wild-type phenotype : mutations complement each other mutations are in different genes arrangement of the two recessive mutations on different chromosomes is called the trans configuration (each homolog contains 1 mutation)
Noncomplementation (1)
wingless wingless
wingless
2) none of the F1 progeny exhibit the wild-type phenotype: mutations do not complement each other mutations are in different alleles of the same gene
Noncomplementation (2)
wingless Small, wrinkled wings
Cross flies with nonidentical recessive mutations, examine progeny - F1 progeny : small, crinkled wings (not wild-type trait) these mutations do not complement each other and must be alleles
Parents :
i) ii)
can use this test to determine how many genes control a biochemical pathway - try to mutate every gene in a pathway, then use cis-trans test to determine how many distinct genes code for proteins that affect the same mutant phenotype helps to treat genetic diseases
Lethal Alleles
cause a deviation from expected 3:1 phenoptypic ratio in a monohybrid cross caused by certain genotypes that result in death and are not seen in the progeny these alleles can still follow standard Mendelian dominant-recessive relationships but will skew Mendelian phenotypic ratios
Homozygous agouti X yellow : always produces yellow and agouti mice (expected 1:1 ratio for a monohybrid test cross) because the agouti mice are known to be homozygous, yellow mice must be heterozygous with yellow dominant to agouti
Yellow X yellow
Expected results phenotypic ratio 3:1 yellow to agouti (monohybrid cross of heterozygotes) Possible explanations?
What about when a specific genotype does not express the expected phenotype ?
3 possibilities :
i. incomplete penetrance ii. variable expressivity iii. 1 gene affects the expression of another gene
Incomplete Penetrance: A Percentage of individuals with a genotype do not express the expected phenotype
Only 60% of the individuals are expressing the expected phenotype ; it is 60% penetrant
Most genotypes are 100% penetrant
Variable Expressivity : the range of phenotypes associated with a specific genotype is increased
All express a mutant phenotype, but there is a range of these phenotypes (light red to complete white) - these phenotypes are associated with a single mutant allele (caused by different expression levels?)
Genotypic Interactions
Mendelian Inheritance : Cross between 2 independent traits should always produce 9:3:3:1 phenotypic ratio - 9/16 have both dominant phenotypes - 1/16 has both recessive phenotypes
-Must be dealing with 2 traits, each with 2 alleles because ratios are in sixteenths -9:7 is variation of 9:3:3:1 ratio -genotypic possibilities in Punnet square : purple color appears when at least one dominant allele for both genes is present white color appears when one or both genes only have recessive alleles
a dominant allele for 2 different genes must be present to produce a phenotype (purple)
without this allele at either or both genes, white color results
Colorless precursor
colorless intermediate
Gene B catalyzes
purple product
Gene A catalyzes
???
- expect 3:1, 1:2:1, or 2:1 for monohybrid F2 ratio
2 different genes encode identical enzymes one of these enzymes can have a slightly different function ; creates gene families with similar function (as with -globin family composed of 5 genes, each expressed at different times in development)
4/16 albino
(3/16 A-cc and 1/16 aacc)
F2 9:3:4 ratio is a modification of 9:3:3:1 recessive epistasis any genotype with cc is albino and masks phenotype of the A gene (agouti or black) ; without this, the A gene expresses (A>a)
P1: pure-breeding white X pure-breeding green F1 progeny : all white squash F1 is self-crossed
Mechanism of Epistasis
The Epistatic Gene Functions Early in the Pathway Resulting in the Albino Phenotype for cc Mice
The recessive c allele is responsible for the albino pigment by blocking the pathway ; its product is required by next gene (A) in making the yellow coat color
Suppressors :
1) May have no other phenotype than to suppress another genes mutant phenotype dihybrids produce only 2 phenotypes 2) Only make the second genes mutant phenotype more like wild-type (no effect on wild-type allele) 3) Can be either dominant or recessive, may suppress a dominant or recessive allele 4) May have both dominant or recessive phenotypes
Possible Mechanisms of Suppression: Other mechanisms (nonspecific; can act on several other genes): 1) increase or decrease expression level of gene 2) affect translation of an mRNA - prevent a stop in translation induced by nonsense mutation
Epigenetics
heritable modification of gene function without a change in DNA sequence
If the female is heterozygous for a sex-linked gene, she is mosaic (composed of two or more genetically distinct tissues or cell types) - some tissues express dominant allele, other tissues express recessive allele
Epigenetics
Barr bodies
http://www.mun.ca/biology/scarr/Barr_Bodies.html
Epigenetics
histone modifications
DNA methylation
methyl group