Jumonji家族中的一个成员hairless基因(Hr)在小鼠和人体内的突变可以导致显著的毛发生长障碍。HR影响的生理过程是出生后的毛发周期(haircycle),而非胚胎期的毛囊形态发生(hairmorphgenesis)。HR与维生素D受体(vitaminDreceptor,VDR)在体外可以直接相互作用,并对基因转录有抑制作用,提示HR是核受体的转录辅抑制因子(corepressor),转录抑制机制可能是通过组蛋白去乙酰基酶(histonedeacetylase,HDAC)等实现。HR的蛋白质结构和亚细胞定位提示其可能通过其他机制改变染色质的状态从而实现对靶基因的表达调控。
The hairless protein (HR), a member of the jumonji family, has long been suspected to regulate a stem cell-mediated process, hair cycling. Mutations in the Hr gene cause hair loss both in mice and human beings. The HR protein which interacts with vitamin D receptor (VDR) and histone deacetylase (HDAC) family members is a nuclear receptor corepressor that functions in hair cycling by regulating gene expression. However, it is still unclear whether the JmjC domain of HR and its specific subcelluar localization play roles in chromatin regulation.