Large Inversion across Populations

[PMID: 26427027] [PLoS Genetics]

Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript

A new 415-kb polymorphic inversion that is among the longest ones found in humans and is the first with clear position effects, “its current frequencies are more consistent with those expected for a deleterious variant, although no significant association with phenotypic traits has been found so far.” It reminds me the 29.5-kb APOBEC3 common deletion which is suggested to be associated with breast cancer risk [PMID: 23411593]. “The deletion is rare in Africans and Europeans (frequency of 0.9% and 6%), more common in East Asians and Amerindians (36.9% and 57.7%), and almost fixed in Oceanic populations (92.9%) [PMID: 17447845].”


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