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Background  Segmental duplications are an abundant source for novel gene functions and evolutionary adaptations. This mechanism of generating novelty was very active during the evolution of primates particularly in the human lineage. Here, we characterize the evolution and function of the  SPATA31  gene family (former designation  FAM75A ), which was previously shown to be among the gene families with the strongest signal of positive selection in hominoids. The mouse homologue for this gene family is a single copy gene expressed during spermatogenesis.    Results  We show that in primates, the  SPATA31  gene duplicated into  SPATA31A  and  SPATA31C  types and broadened the expression into many tissues. Each type became further segmentally duplicated in the line towards humans with the largest number of full-length copies found for  SPATA31A  in humans. Copy number estimates of  SPATA31A  based on digital PCR show an average of 7.5 with a range of 5–11 copies per diploid genome among human individuals. The primate  SPATA31  genes also acquired new protein domains that suggest an involvement in UV response and DNA repair. We generated antibodies and show that the protein is re-localized from the nucleolus to the whole nucleus upon UV-irradiation suggesting a UV damage response. We used CRISPR/Cas mediated mutagenesis to knockout copies of the gene in human primary fibroblast cells. We find that cell lines with reduced functional copies as well as naturally occurring low copy number HFF cells show enhanced sensitivity towards UV-irradiation.    Conclusion  The acquisition of new  SPATA31  protein functions and its broadening of expression may be related to the evolution of the diurnal life style in primates that required a higher UV tolerance. The increased segmental duplications in hominoids as well as its fast evolution suggest the acquisition of further specific functions particularly in humans.    Electronic supplementary material  The online version of this article (doi:10.1186/s12864-017-3595-8) contains supplementary material, which is available to authorized users.

Segmental duplications and evolutionary acquisition of UV damage response in the SPATA31 gene family of primates and humans