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Background  The common deletion of the glutathione S-transferase Mu 1 ( GSTM1 ) gene in humans has been shown to be involved in xenobiotic metabolism and associated with bladder cancer. However, the evolution of this deletion has not been investigated.    Results  In this study, we conducted comparative analyses of primate genomes. We demonstrated that the  GSTM  gene family has evolved through multiple structural variations, involving gene duplications, losses, large inversions and gene conversions. We further showed experimentally that the  GSTM1  was polymorphically deleted in both humans and also in chimpanzees, through independent deletion events. To generalize our results, we searched for genic deletions that are polymorphic in both humans and chimpanzees. Consequently, we found only two such deletions among the thousands that we have searched, one of them being the  GSTM1  deletion and the other surprisingly being another metabolizing gene, the  UGT2B17 .    Conclusions  Overall, our results support the emerging notion that metabolizing gene families, such as the  GSTM, NAT, UGT  and  CYP , have been evolving rapidly through gene duplication and deletion events in primates, leading to complex structural variation within and among species with unknown evolutionary consequences.    Electronic supplementary material  The online version of this article (10.1186/s12864-018-4676-z) contains supplementary material, which is available to authorized users.

Complex evolution of the GSTM gene family involves sharing of GSTM1 deletion polymorphism in humans and chimpanzees