Gene dosage effects: nonlinearities, genetic interactions, and dosage compensation.

Gene dosage effects: nonlinearities, genetic interactions, and dosage compensation.
Trends Genet. 2013 May 17;
Authors: Veitia RA, Bottani S, Birchler JA
Abstract
High-throughput genomic analyses have shown that many mutations, including loss-of-function (LOF) mutations, are present in diseased as well as in healthy individuals. Gene dosage effects due to deletions, duplications, and LOF mutations provide avenues to explore oligo- and multigenic inheritance. Here, we focus on several mechanisms that mediate gene dosage effects and analyze biochemical interactions among multiple gene products that are sources of nonlinear relations connecting genotypes and phenotypes. We also explore potential mechanisms that compensate for gene dosage effects. Understanding these issues is critical to understanding why an individual bearing a few damaging mutations can be severely diseased, whereas others harboring tens of potentially deleterious mutations can appear quite healthy.
PMID: 23684842 [PubMed - as supplied by publisher]

Source: Trends in Genetics : TIG - May 17, 2013 Category: Genetics & Stem Cells Authors: Veitia RA, Bottani S, Birchler JA Tags: Trends Genet Source Type: research