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Extensions to Mendel

Incomplete dominance heterozygotes show a distinct intermediate phenotype different from homozygous genotypes Neither trait is dominant Symbols Alleles that are incompletely dominant are written using a superscript letter. Flower color: CWCW (white) plant X CRCR (red) plant will produce all CRCW offspring Snapdragon-incomplete dominance
Are these traits blended? NO the alleles are particulate (they remain separate and do not influence each other). How do we know? A cross of two pink individuals will produce red, white and pink individuals. The phenotypic ratio will be 1:2:1, like the genotypic ratio

What is really going on? White allele is most likely a loss of function mutation Wild type (red) codes for synthesis of red pigment Mutant allele (white) cannot synthesize the pigment Therefore, the heterozygote only produces the amount of pigment (pink) With incomplete dominance we get a reduced function of the dominant trait (due to recessive), so that the third phenotype is something in the middle (red x white = pink). In codominance, the "recessive" & "dominant" traits appear together in the phenotype of hybrid organisms appears to be a blend In both cattle and horses, reddish coat color is not completely dominant to white coat color. Heterozygous individuals have a mixture of reddish hairs and white hairs, which is called roan. Because the reddish and white colors are expressed independently in the roan heterozygote, we refer to this as a case of codominance. Codominance refers to instances in which the heterozygote simultaneously expresses the phenotypes of both types of homozygotes. Just like in incomplete dominance these findings did not prove Mendel wrong. Why? Lethal Alleles Loss of function mutation Can (sometimes) be tolerated in heterozygous state Can have a mutant phenotype (acts dominant) when heterozygous BUT may be lethal in the homozygous state

Lethal Alleles Imagine - each gene has 2 alleles, (light/dark), demonstrate incomplete dominance AABBCC (dark) and aabbcc (light)

Cross between 2 AaBbCc (intermediate) produces wide range of shades

V. Variations on the classic Dihybrid Cross A. Complementary Genes- Genes that are mutually dependent. Neither can exert its phenotypic effects unless the other does also. Example: P White flowers Genetype: Gametes: F1 F1X Genetypes: Cc Pp CC pp Cp X cP White Flowers cc PP

All Purple Flowers Purple X CP X Cc Pp Cp Purple

Gametes: CP Cp cP cp

If tw genes are involved in a specific pathw and o ay functional products fromboth are required for expression, then one recessive allelic pair at either allelic pair w ould result in the m utant phenotype. This is graphically show in the follow diagram n ing .

B cau e bot ge e ar r qu e fort e e s h n s e e ir d h cor ect ph ot pe t isin er ioniscalle r en y , h t act d co pe e t r g n a i n m l m na y e e cto .


2 0

Epistasis When one gene has the effect of masking the phenotypic expression of another gene. The gene that is doing the masking is said to be epistatic to the second gene that is being masked. Epistasis example:

2 1

In Guinea Pigs and many other mammals coat color depends on two genes: One determines whether the coat color pigment will be black (BB, Bb ) or brown (bb) The second gene controls whether or not the pigment of either color will be deposited in the hair, with the allele for the deposition of color ( C) dominant to the allele for the absence of color(cc). All of the offspring of the cc genotype are white(albino), regardless of the genotype for the black/brown loci. The black allele is dominant to the brown allele Individual with cc has a white (albino) coat regardless of the genotype of the 2nd gene (i.e. B_cc) (i.e. bbcc)

Genotype B___ Enzyme B T yrosine extensive melanin ( Black fur) Genotype bb Enzyme b T yrosine minimal melanin Genotype cc No pigment Deposition 25 Genotype C __ (enzyme C ) Pigment deposition to cells

( Brown fur) (Enzyme c) to cells

In cats (and other mammals), a pattern of hair termed agouti is an example of epistasis

Some cats have hairs in which there is more than one color distributed along the hair shaft (banded agouti) Agouti fur color is typical of many wild animals such as mice squirrels and rabbits good for camouflage! Agouti Agouti is determined by the dominant agouti allele, A Hairs on non-agouti cats are unbanded, producing a solidly colored coat Such a cat is homozygous for the non-agouti allele (aa) at the agouti locus Again regardless of color. SO you could have an agouti brown, agouti black, etc. Multiple Alleles Can only be studied in populations WHY? Because individuals can only have 2 alleles for a gene! Example of trait covered by multiple alleles? Human Blood Type ABO antigens Codominance Codominance 2 alleles affect the phenotype in separate, distinguishable ways (ABO blood types) Alleles for curly hair and straight hair are codominant Curly hair = homozygous for curly hair alleles Straight hair = homozygous for straight hair alleles Heterozygous individuals have wavy hair

Epistasis hh genotype = no H protein. All ABO genotypes appear as type O. A and B antigens attach to the H antigen, only one H needs to be present. hh, no H antigen binds to the A and B antigens, and they fall away-thus the person has type O blood by phenotype but not genotype: Polygenic Traits Many traits with a distinct phenotype are affected by more than one gene The cellular function of numerous gene products contributes to the development of a common phenotype Ex - skin color in humans is controlled by at least 3 different genes