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dominant allele
recessive allele
somatic cells
genetic makeup
Autosomal Dominant Disorders: The Manx Cat
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Traits are expressed through genes, which are comprised of alleles. These alleles have two forms: dominant and recessive. A dominant allele is notated by a capital letter (M) and a recessive allele is notated by a lowercase letter (m). To express a certain phenotype (the physical appearance of a trait) one needs two alleles, one from thier mother and the other from thier father. This results in a possibility of three different genotypes (the genetic makeup of the trait) depending on what allele each parent donates. The offspring can be either homozygous dominant (MM), heterozygous dominant (Mm), or homozygous recessive (mm).

For the genotypes: MM and Mm, the dominant phenotype would be expressed and for the genotype: mm, the recessive phenotype would be expressed. An autosomal dominant disorder means that there is a mutation that occurs in the dominant alleles of a specific gene in the somatic cells. This means that those who have the genotype MM or Mm, will show a mutated phenotype, whereas those who have the recessive genotype (mm) will develop normally. These types of mutations, depending on what gene it is effecting, can be dangerous and even lethal. This can be seen in the case of the Manx cat.

The Manx cat does not posess a tail, which is caused by a mutation in the dominant allele. The mutation causes for abnormal development of the bones that make up the tail: the coccygeal and the sacral vertebrae. There is a difference however in those cats that have the homozygous dominant genotype (MM) and those that have the heterozygous dominant genotype(Mm). For the cats that have the genotype MM, there are severe developmental abnormalities in the lower vertebrate caused by having two mutated alleles. Because of this severe lack in development, it often causes the cat to not survive, meaning that the homozygous dominant genotype is lethal. However, when the cat posesses the heterozygous genotype (Mm) the cat survives, but without a tail. This is due to the cat possesing one normal allele and only one mutated allele, so therefore less damage is present. Knowing that the mutation occurs in the dominant allele, it is assumed that the normal cat phenotype is due to the recessive genotype (mm).

This is an example of autosomal dominant disorders that occurs in cats, however there are many such disorders that occur in humans. Some examples of other dominant autosomal disorders are Pseudoachindroplasia, which is characterized by bone development abnormalities, and Hunningtons disease, which is affects muscle coordination.


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