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Reproduction, Fertility and Development Reproduction, Fertility and Development Society
Vertebrate reproductive science and technology
RESEARCH ARTICLE

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

Renwei Jing A B , Haiqing Zhang C , Yu Kong A B , Kailin Li B E , Xuan Dong B , Jie Yan B , Jia Han D F and Lijun Feng https://orcid.org/0000-0002-7545-3122 B F
+ Author Affiliations
- Author Affiliations

A Basic Medical College, Tianjin Medical University, Qixiangtai Road, Heping District, Tianjin 300070, PR China.

B Shandong Provincial Key Laboratory of Animal Cells and Developmental Biology, Institute of Developmental Biology, School of Life Sciences, Shandong University, Jinan, Shandong 250100, PR China.

C Department of Bioengineering, Shandong Polytechnic, Jinan, Shandong 250014, PR China.

D Department of Nephrology, Key Laboratory for Kidney Regeneration of Shandong Province, Shandong Provincial Hospital Affiliated to Shandong University, 324 Jingwu Street, Jinan, 250021, China.

E Present address: Central Research Laboratory, The Second Hospital of Shandong University, Jinan 250100, PR China.

F Corresponding authors. Emails: drfeng@sdu.edu.cn; macromidia@163.com

Reproduction, Fertility and Development 31(5) 972-982 https://doi.org/10.1071/RD18339
Submitted: 22 August 2018  Accepted: 24 December 2018   Published: 21 February 2019

Abstract

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.

Additional keywords: acrosome, mitochondrial, Sertoli cell, sperm, testis, Zn2+.


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