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

Bekpen, Cemalettin; Tautz, Diethard

We focus here on 10 core duplicon gene families, which share a number of other features. (i) Their duplicates are generally confined to a single chromosome, partly in tandem but also dispersed along the chromosome. (ii) They have variable copy numbers in human populations and include some of the most variable human CNV genes (e.g. SPATA31, Morpheus (NPIP) and LRRC37A) [8] [9] [10] [11] . (iii) Almost all of these genes show ubiquitous or at least broad patterns of expression, while their ancestral progenitor genes often exhibit tissue-specific expression, mostly in the testis [4] . Intriguingly, at least half of these core duplicon gene families (including Morpheus (NPIP), SPATA31, NBPF11, RGPD, GOLGA, PMS2P and TRIM51) evolved under positive selection (Table 1) , making them among the fastest evolving genes in humans [12] [13] [14] [15] [16] [17] . Hence, both the human lineage-specific expansion and the patterns of positive selection suggest that these gene families have played a direct role in the phenotypic evolution of humans.