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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 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]
The first gene dosage effect that was observed, and considered to be an autosomal dominant disease from an inherited DNA rearrangement, was Charcot-Marie Tooth (CMT) disease. Most of the associations found with CMT were with a 1.5 Mb tandem duplication in 17p11.2-p12 at the PMP22 gene. [ 11 ]
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 ...
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 ] .
Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene .
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.).