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Gene dosage is the number of copies of a particular gene present in a genome. [1] Gene dosage is related to the amount of gene product (proteins or functional RNAs) the cell is able to express. Since a gene acts as a template, the number of templates in the cell contributes to the amount of gene product able to be produced.
Z-specific genes were over-expressed in males when compared to females, and a few genes had equal expression in both male and female Z chromosomes. [citation needed] In chickens, most of the dosage compensated genes exist on the Zp, or short, arm of the chromosome while the non-compensated genes are on the Zq, or long, arm of the chromosome.
The SHOX gene in the PAR1 region is the gene most commonly associated with and well understood with regards to disorders in humans, [17] but all pseudoautosomal genes escape X-inactivation and are therefore candidates for having gene dosage effects in sex chromosome aneuploidy conditions (45,X, 47,XXX, 47,XXY, 47,XYY, etc.).
Theoretically, X-inactivation should eliminate the differences in gene dosage between affected individuals and individuals with a typical chromosome complement. In affected individuals, however, X-inactivation is incomplete and the dosage of these non-silenced genes will differ as they escape X-inactivation, similar to an autosomal aneuploidy.
The AMY1 gene is an excellent example of how gene dosage affects the survival of an organism in a given environment. The multiple copies of the AMY1 gene give those who rely more heavily on high starch diets an evolutionary advantage, therefore the high gene copy number persists in the population. [26]
Thus telomerase dosage is important for maintaining tissue proliferation. [3] A variation of haploinsufficiency exists for mutations in the gene PRPF31, a known cause of autosomal dominant retinitis pigmentosa. There are two wild-type alleles of this gene—a high-expressivity allele and a low-expressivity allele. When the mutant gene is ...
A new federal report shows that one drink per day is associated with negative health effects, while a recent report from the U.S. Surgeon General highlighted cancer risks associated with moderate ...
Gene dosage effects after duplication can also be harmful to a cell and the duplication might therefore be selected against. For instance, when the metabolic network within a cell is fine-tuned so that it can only tolerate a certain amount of a certain gene product, gene duplication would offset this balance [ citation needed ] .