标题：Different functions of biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes on spermatogenesis and male fertility
作者：Jing, Renwei; Zhang, Haiqing; Kong, Yu; Li, Kailin; Dong, Xuan; Yan, Jie; Han, Jia; Feng, Lijun
作者机构：[Jing, Renwei; Kong, Yu] Tianjin Med Univ, Basic Med Coll, Qixiangtai Rd, Tianjin 300070, Peoples R China.; [Jing, Renwei; Kong, Yu; Li, Kailin; Don 更多
通讯作者：Feng, LJ;Han, J
通讯作者地址：[Feng, LJ]Shandong Univ, Inst Dev Biol, Sch Life Sci, Shandong Prov Key Lab Anim Cells & Dev Biol, Jinan 250100, Shandong, Peoples R China;[Han, J]Sha 更多
来源：REPRODUCTION FERTILITY AND DEVELOPMENT
关键词：acrosome; mitochondrial; Sertoli cell; sperm; testis; Zn2+
摘要：Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder in humans and mice. Pale ear (ep) and pearl (pe) mice, bearing mutations in the biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes respectively, are mouse models of human HPS Type 1 (HPS1) and Type 2 (HPS2) respectively. In the present study we investigated and compared the reduced fertilities of ep and pe male mice. Both ep and pe males exhibited lower abilities to impregnate C57BL/6J (B6) females, and B6 females mated with ep males produced smaller litters than those mated with pe males. Delayed testis development, reduced sperm count and lower testosterone concentrations were observed in the pe but not ep male mice. However, the reduction in sperm motility was greater in ep than pe males, likely due to the mitochondrial and fibrous sheath abnormalities observed by electron microscopy in the sperm tails of ep males. Together, the results indicate that the Hps1 and Ap3b1 genes play distinct roles in male reproductive system development and spermatogenesis in mice, even though ep and pe males share common phenotypes, including reduced lysosomes in Sertoli cells and dislocated Zn2+ in sperm heads.