Human core duplicon gene families: game changers or game players?

Bekpen, Cemalettin; Tautz, Diethard

SPATA31's UV-exposure response, as well as its acquired protein domains, suggests a function in DNA damage repair. Functional analysis of cells with reduced SPATA31 copy number showed increased sensitivity to UV exposure [18] . Furthermore, overexpression of SPATA31A1 in epidermal cells leads to premature senescence [43] . Interestingly, long-lived individuals (>96 years old) have significantly fewer copies of SPATA31 genes on average compared to a control group. This observation suggests that the adaptive evolution of the SPATA31 gene family is an example of antagonistic pleiotropy; it provides a fitness benefit during the reproductive phase of life (better protection against UV-light damage), but it negatively influences overall life span possibly by causing more repair-induced mutations [43] . Knockout of the progenitor gene in mice leads to spermatogenesis defects and infertility [44] , which is in line with its testis-specific expression in mice.