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PMID 24557841
Gene Name SHCBP1L
Condition Role in speramtogenesis
Association Associated
Sex Male
Infertility type Male infertility
Other associated phenotypes Role in spermatogenesis


SHCBP1L, a conserved protein in mammals, is predominantly expressed in male germ cells and maintains spindle stability during meiosis in testis

Liu M, Shi X, Bi Y, Qi L, Guo X, Wang L, Zhou Z, Sha J.

Male subfertility due to falling sperm counts has become an increasing problem over a short timescale (50-70 years). Recently, bioinformatics analysis of the human testis proteome has revealed the existence of human-testicular-predominantly-expressed-proteins, which are highly associated with spermatogenesis, although the functions of many of these proteins are still unknown. To understand the function of one of these proteins, SHCBP1L (1700012A16RIKEN), a knockout mouse was produced in which this gene was removed. Using this model, we showed that SHCBP1L binds to another protein, HSPA2, and maintains stability of the spindle. We showed that this complex was not present in knockout mice and that an abnormal number of spermatocytes were held in the early stages of meiosis. Many of these cells were undergoing programmed cell-death, or apoptosis, which is highly unusual for cells during the early stages of meiosis. We also found that proteins very similar to SHCBP1L exist in many other mammals. This led us to propose that SHCBP1L plays an important role in spermatogenesis in mammals. CI - © The Author 2014. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com. FAU - Liu, Mingxi AU - Liu M AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, Jiangsu, China. FAU - Shi, Xiaodan AU - Shi X AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, Jiangsu, China. FAU - Bi, Ye AU - Bi Y AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, Jiangsu, China. FAU - Qi, Lin AU - Qi L AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, Jiangsu, China. FAU - Guo, Xuejiang AU - Guo X AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, Jiangsu, China. FAU - Wang, Lei AU - Wang L AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, Jiangsu, China zhouzm@njmu.edu.cn wanglei@njmu.edu.cn. FAU - Zhou, Zuomin AU - Zhou Z AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, Jiangsu, China zhouzm@njmu.edu.cn wanglei@njmu.edu.cn.