Mechanisms of Mendelian dominance.

Mechanisms of Mendelian dominance.
Clin Genet. 2017 Jul 28;:
Authors: Veitia RA, Caburet S, Birchler JA
Abstract
Genetic dominance has long been considered as a qualitative reflection of interallelic interactions. Dominance arises from many multiple sources whose unifying theme is the existence of non-linear relationships between the genotypic and phenotypic values. One of the clearest examples are dominant negative mutations (DNMs) in which a defective subunit poisons a macromolecular complex. Dominance can also be due to the presence of a heterozygous null allele, as is the case of haploinsufficiency. Dominance can also be influenced by epistatic (interloci) interactions. For instance, a pre-existing genetic variant can make possible the expression of a pathogenic variant in a seemingly 'dominant' fashion. Such interactions, which can make an individual more or less sensitive to a particular pathogenic variant, will also be discussed.
PMID: 28755412 [PubMed - as supplied by publisher]

Source: Clinical Genetics - July 28, 2017 Category: Genetics & Stem Cells Authors: Veitia RA, Caburet S, Birchler JA Tags: Clin Genet Source Type: research