BI111 Lecture Notes - Lecture 1: Mathematical Model, Panmixia, Homologous Chromosome

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27 Jun 2018
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BI111 – L1
Genetics Review (Continued)
Felis Catus: (Cats)
2 alleles
oL (dominant, short hair)
ol (recessive, long hair)
Manx cats
oMutation originated in populations of cats on the Isle of Mann
oTailless mutation is dominant and homozygous lethal
“All white” fur controlled by “white masking” gene
o2 alleles:
W (dominant, all white hair)
w (recessive, colored hair possible)
oW allele has “epistatic”(effects different showing of a phenotype) and “pleiotropic”
(multiple effects in different systems) properties
Another pleiotropic effect on phenotype: sickle cell anemia
The dense pigment gene, D codes for melanophilin, a protein involved in the transportation and
deposition of pigment into a growing hair
o2 alleles:
D - functional melanophilin
d - less-functional melanophilin (dilutes hair colour)
Not all genes are 100% dominant or recessive
oIncomplete or partial dominance:
s (recessive) - homozygous has no white hair (ss)
S (incomplete dominance) - some white hair (sS)
Sex Chromosomes:
The “red” gene, O, located on the X-chromosome determines whether or not there will be red
variation in fur colour
o2 alleles:
O - production of phaeomelanin (red)
o - production of eumelanin (browns and blacks)
oWhat are the possible genotypes?
oPhenotypes?
Homogametic and Heterogametic sex chromosomes
oSex chromosomes often determine sex
oX and Y chromosomes in some species
oXX: female XY: male
oW and Z chromosomes in others (birds)
oWZ: female ZZ: male
Consequences of Sex Chromosomes:
Hetergametic sex has only one copy of each type of sex chromosome
oOne copy of a recessive allele results in expression of the trait
Homogametic sex have 2 copies of sex chromosomes
oHeterozygote: recessive allele hidden (carrier)
oHomozygote recessive: trait expressed
Dosage compensation
oRegulatory process that ensures that males and females have = amounts of X-
chromosomes gene products
oIn female mammals, inactivation of one X chromosome makes the dosage of X-linked
genes the same as males
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Document Summary

L (dominant, short hair) l (recessive, long hair) Manx cats: mutation originated in populations of cats on the isle of mann, tailless mutation is dominant and homozygous lethal. All white fur controlled by white masking gene o. W (recessive, colored hair possible: w allele has epistatic (effects different showing of a phenotype) and pleiotropic (multiple effects in different systems) properties. Another pleiotropic effect on phenotype: sickle cell anemia. The dense pigment gene, d codes for melanophilin, a protein involved in the transportation and deposition of pigment into a growing hair o. D - functional melanophilin d - less-functional melanophilin (dilutes hair colour) Not all genes are 100% dominant or recessive o. Incomplete or partial dominance: s (recessive) - homozygous has no white hair (ss) S (incomplete dominance) - some white hair (ss) The red gene, o, located on the x-chromosome determines whether or not there will be red variation in fur colour o.

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