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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.
Muller introduced a mutant gene that caused loss of pigmentation in fly eyes, and subsequently noted that males with only one copy of the mutant gene had similar pigmentation to females with two copies of the mutant gene. This led Muller to coin the phrase "dosage compensation" to describe the observed phenomenon of gene expression equalization ...
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.).
The number of copies of a particular gene present in a genome. Gene dosage directly influences the amount of gene product a cell is able to express, though a variety of controls have evolved which tightly regulate gene expression. Changes in gene dosage caused by mutations include copy-number variations. gene drive gene duplication. Also gene ...
Genetic imbalance is to describe situation when the genome of a cell or organism has more copies of some genes than other genes due to chromosomal rearrangements or aneuploidy. Changes in gene dosage , the number of times a given gene is present in the cell nucleus , can create a genetic imbalance.
Unequal crossing over is the process most responsible for creating regional gene duplications in the genome. [1] Repeated rounds of unequal crossing over cause the homogenization of the two sequences. With the increase in the duplicates, unequal crossing over can lead to dosage imbalance in the genome and can be highly deleterious. [1] [2]
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The SHH gene is a member of the hedgehog gene family with five variations of DNA sequence alterations or splice variants. [37] SHH is located on chromosome seven and initiates the production of Sonic Hedgehog protein. [37] This protein sends short- and long-range signals to embryonic tissues to regulate development. [38]