The study underlined the great significance that structural variants, especially mCNVs, have on gene dosage which leads to variable gene expressions and human phenotypic diversity in the population.
12.
For example, increasing the gene dosage of the gene SIR-2, which regulates DNA packaging in the nematode worm " Caenorhabditis elegans ", can significantly extend lifespan.
13.
It was subsequently postulated that the increased gene dosage of three SHOX genes leads to tall stature in the sex chromosome trisomies 47, XXX, 47, XXY, and 47, XYY.
14.
It was suggested that the gene dosage effect accompanying copy number variation may lead to detrimental effects if essential cellular functions are disrupted, therefore proteins involved in cellular pathways are subjected to strong purifying selection.
15.
The marked difference between male and female chicks is due to gene dosage of the sex-linked barring gene ('barring'( B ),'nonbarring'( b + ) ).
16.
From their analysis, they found that mCNVs create most genetic variation in gene dosage compared to other structural variants and that the gene expression variation is created by the dosage diversity of genes created by mCNVs.
17.
The bacterial chromosome is present only in one copy per cell, but there can still be variation in gene dosage due to DNA replication which starts at the origin of replication and ends at the termination site.
18.
This can be explained by gene dosage compensation due to autoregulation, in which expression of the remaining copy of the Pou4f1 gene is increased in heterozygotes, leading to near-normal expression of its downstream targets.
19.
Recently, Baggs et al . developed a novel strategy termed " Gene Dosage Network Analysis " ( GDNA ) to describe network features in the human circadian clock that contribute to an organism's robustness against genetic perturbations.
20.
Interestingly, deletions at the PLP1 locus ( which are rarer ) cause a milder form of PMD than is observed with the typical duplication mutations, which demonstrates the critical importance of gene dosage at this locus for normal CNS function.
