期刊
CLINICAL GENETICS
卷 93, 期 3, 页码 419-428出版社
WILEY
DOI: 10.1111/cge.13107
关键词
cooperativity; dominant negative mutations; gain-of-function; haploinsufficiency; loss-of-function; macromolecular complexes; transcriptional synergy
资金
- Universite Paris Diderot
- Centre National pour la Recherche Scientifique
- Fondation pour la Recherche Medicale [DEQ20150331757]
- Agence Nationale de la Recherche
- National Science Foundation [IOS-1545780]
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 here.
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