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2015 ; 5
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Genetic modifiers and oligogenic inheritance
#MMPMID26033081
Kousi M
; Katsanis N
Cold Spring Harb Perspect Med
2015[Jun]; 5
(6
): ä PMID26033081
show ga
Despite remarkable progress in the identification of mutations that drive genetic
disorders, progress in understanding the effect of genetic background on the
penetrance and expressivity of causal alleles has been modest, in part because of
the methodological challenges in identifying genetic modifiers. Nonetheless, the
progressive discovery of modifier alleles has improved both our interpretative
ability and our analytical tools to dissect such phenomena. In this review, we
analyze the genetic properties and behaviors of modifiers as derived from studies
in patient populations and model organisms and we highlight conceptual and
technological tools used to overcome some of the challenges inherent in modifier
mapping and cloning. Finally, we discuss how the identification of these
modifiers has facilitated the elucidation of biological pathways and holds the
potential to improve the clinical predictive value of primary causal mutations
and to develop novel drug targets.
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