An evolutionary perspective on human inversions

Abstract

Inversions polymorphisms provided critical case studies in the early development of population genetics. Recently, interest in their evolution has been re-invigorated by the discovery of inversion polymorphism in many animal and plant species using genomic approaches and by new theoretical developments. In parallel, genomic approaches are providing new insights into the origin, prevalence and consequences of inversions in human populations. In this article, I consider how observations on human inversions fit into the prevailing view of inversion polymorphism in the evolutionary biology community. Research on non-human species tends to concentrate on large inversions and those maintained at high frequency. As a result, the evolutionary field has much to learn from work on humans about inversion origins and the pathological effects of rare variants. Both fields infer the maintenance of common polymorphisms by balancing selection, but it remains difficult to identify the underlying causes.