The phenotypic impact of the male-specific region of chromosome-Y in inbred mating: the role of genetic variants and gene duplications in multiple inbred rat strains

摘要: The male-specific region of chromosome-Y (MSY) contributes to phenotypes outside testis development and has a high rate evolution between mammalian species. With lack genomic crossover, MSY is one the few areas under similar variation evolutionary selection in inbred outbred animal populations, allowing for an assessment mechanisms translate populations. Using next-generation sequencing, consomic strains, molecular characterization, large-scale phenotyping, we present here regions that contribute strain phenotypes. We have shown (1) rat nine autosomal gene transposition events with strain-specific selection; (2) sequence variants occur 1.98-fold higher number than other chromosomes seven sequenced strains; (3) Sry, most studied gene, undergone extensive duplications, driving ubiquitous expression not seen human or mouse; (4) profile Sry driven by insertion Sry2 copy into intron ubiquitously expressed Kdm5d antisense orientation, but due several loss function mutations protein, nuclear localization transcriptional control are decreased; (5) copies overlaps SRY; (6) duplications (P76T) can be selected such as blood pressure androgen receptor signaling within mating; importantly, (7) per chromosome size, phenotypic relative all chromosomes, 53 showing both male female cross significance. data presented supports probability genetic altering broad range