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4.modifications of Mendelian Ratios
4.modifications of Mendelian Ratios
Incomplete dominance
This is seen when heterozygotes have phenotypes that are intermediate between the
two homozygotes
In incomplete dominance, the phenotypic and genotypic ratios are equal
Each genotypic class has a separate phenotype
Codominance
Heterozygotes simultaneously express the phenotypes of both homozygotes
Multiple alleles
When there are more than two alleles controlling a trait, we have multiple alleles
ABO blood group
o This is a classic example of both codominance and multiple alleles
o There are three alleles controlling this trait - IA, IB, i
o The presence or absence of the different blood type antigens on the red
blood cells determines blood type
o Your blood type also determines the type or types of blood that you can
receive in a transfusion
Lethal alleles
1905 - Lucien Cuenot mated two yellow mice
~2/3 of the offspring were yellow; ~1/3 were not
All of the yellow mice were heterozygous; none of the yellow mice bred true
So there were two strange findings here
The phenotypic ratio was 2:1, not a Mendelian ratio
There were no homozygous yellow mice
The 2:1 ratio is almost always indicative of the presence of a recessive lethal
allele
Achondroplasia
o Affects about 1 in 25,000 people
o Head and torso develop normally but arms and legs are short
o It is inherited in a dominant manner
We can also consider inheritance of the more common mouse coat colors
Two genes, two enzymes in a multi-step pathway
Dominant epistasis
Sometimes the presence of only one allele can produce the masking effect
Bateson and Punnett looked at flower color in sweet pea, not the garden pea that Mendel
investigated
They crossed two true-breeding strains of white-flowered plants and got all purple F 1
plants!
Allowing the F1 plants to self-fertilize gave plants with both purple and white flowers
in a 9 purple: 7 white ratio
In this case, at least one dominant allele of each gene is required to complete the
conversion of white flowers to purple
In the case of summer squash shape, you can cross plants with disc-shaped fruit (AABB)
with plants with long fruit (aabb)
All of the F1 plants have disc-shaped fruit
However, if you allow the F1 plants to self-fertilize, a new shape (sphere) is seen in
the F2 as well as the parental shapes
Complementation analysis
Consider two mutants that display a similar phenotype
This may be due to mutations in the same gene or in different genes
Complementation analysis can distinguish between these two possibilities
Pleiotropy
Sometimes, one gene can have multiple effects
Human examples include Marfan syndrome and porphyria variegata
Sex-linked characteristics
Most are X-linked; few are Y-linked characteristics
Morgan noticed a lone white-eyed male among his thousands of red-eyed laboratory
flies
o Naturally, he carried on a number of crosses with this white-eyed fly and his
offspring
Morgan’s results
o Pure-breeding, red-eyed female x white-eyed male gave all red-eyed F1 (only
3/1237 had white eyes)
o Conclusion: Simple dominance/recessive trait
o However, a cross between two F1 flies produced all red-eyed F2 females
o Half of the F2 males had red eyes; half had white eyes!
o Conclusion: Male fruit flies are hemizygous for X-linked loci
o Morgan was able to make predictions based on his hypothesis
o Subsequent crosses confirmed the hypothesis
X-linked inheritance
o Red-green color blindness
o Cone cells that line the retina contain one of three pigments capable of
absorbing blue, green, or red light
o The gene for the blue pigment is found on chromosome 7; the genes for the
red and green pigments are on the X
o Affected women pass the X-linked recessive trait to their sons
o Affected men pass the trait to their grandsons through their daughters
o This pattern is known as crisscross inheritance
Genomic imprinting
Differential expression of genetic material depending on which parent contributed
the allele
Birth weight in mice and humans is affected by a number of genes including Igf2
o Oddly, only the paternal copy is expressed in the fetus and placenta; the
maternal copy of the gene is completely silent
Genetic-conflict hypothesis
o This seems to occur because the paternal copy promotes placental and fetal
growth by directing more of the maternal nutrients to the fetus
o Non-expression of the maternal copy would select for smaller fetal size
One deletion, two disorders
o Prader-Willi and Angelman syndromes
o There is a deletion in chromosome 15
o If inherited from the father, Prader-Willi
o If inherited from the mother, Angelman
Cytoplasmic inheritance
o Inheritance of mitochondria (and chloroplasts) occurs only through the egg
o The sperm contributes no cytoplasm
Mitochondria
o Contain DNA
o ~15,000 bp; 37 genes, most involved in energy metabolism
o Most cells contain 2-10 mitochondria, therefore 2-10 copies of mtDNA
o Because mitochondria segregate randomly when the cell divides, mitochondrial
disorders are highly variable
It also holds for the inheritance of cpDNA
o One variety of four-o’clock plants has variegated leaves and shoots
o Some branches of the variegated strain had all-green leaves while others had all-
white leaves
Genetic maternal effect
o The offspring’s phenotype is determined by the mother’s genotype
o Shell coiling in the snail Limnaea peregra is determined very early and depends on a
substance present in the egg
o In this case, all of the F2 are dextral
o But, the F3 phenotypes would depend on the genotype of the mothers