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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.
Although a single dose of any gene may not cause substantial harm to the individual, the genetic imbalance resulting from a single dose of many genes at the same time can be lethal. Humans, for example, cannot survive, even as heterozygotes , with deletions that remove more than about 3% of any part of their haploid genome .
The third documented type of gene dose regulatory mechanism is incomplete compensation without balance (sometimes referred to as incomplete or partial dosage compensation). In this system gene expression of sex-specific loci is reduced in the heterogametic sex i.e. the females in ZZ/ZW systems and males in XX/XY systems. [4]
The X chromosome, compared to an autosomal gene, contains more silent genes which influences measuring the amount of influence active genes have. RNA-seq data was preformed and the autosomal and X linked gene outputs were significantly different. This agrees with the fact that X dosage compensation is in respect to autosomes.
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.
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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 ...
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.).