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Molecular Regulation of Sperm Production Cascade

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Genetics of Male Infertility

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Abstract

About 10–15% of the couples suffer from infertility worldwide, with male factor accounting for half of the infertility cases. Spermatogenesis is a complex process involving the interplay of thousands of genes, of which about 1000 are testis enriched with about 200 signature genes. Such a complex spatiotemporal molecular interplay is mandatory for orchestrating the most diverse cellular changes beginning with mitosis, going through meiosis, and terminating with cellular differentiation, ultimately resulting in the formation of a highly specialized, motile, and unique cellular entity called sperm. Mouse knockout studies have been instrumental in identifying the genes important for spermatogenesis. Till now, at least 388 genes have been reported to play roles in spermatogenesis in mouse. Human genetic analysis studies provided invaluable insights in identifying candidate genes. Recently, the implementation of whole genome studies has added more candidates that need further in-depth research for dissecting their biological roles. In this chapter, we have summarized the genes important for spermatogonial stem cell renewal, meiosis, and spermiogenesis and the association of mutations in these genes with human male infertility.

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Acknowledgments

The authors would like to thank the Council of Scientific Research and Industrial Research (CSIR), Govt. of India, for financial help and CSIR-Central Drug Research Institute (CDRI) for providing working environment.

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Authors and Affiliations

  1. Division of Endocrinology, CSIR-Central Drug Research Institute, Lucknow, Uttar Pradesh, India

    Meghali Joshi & Rajender Singh

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  1. Meghali Joshi
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  2. Rajender Singh
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Correspondence to Rajender Singh .

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  1. Department of Urology, Hamad Medical Corporation, Doha, Qatar

    Mohamed Arafa

  2. Department of Urology, Hamad Medical Corporation, Doha, Qatar

    Haitham Elbardisi

  3. Department of Urology, Hamad Medical Corporation, Doha, Qatar

    Ahmad Majzoub

  4. Cleveland Clinic, Cleveland, OH, USA

    Ashok Agarwal

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Joshi, M., Singh, R. (2020). Molecular Regulation of Sperm Production Cascade. In: Arafa, M., Elbardisi, H., Majzoub, A., Agarwal, A. (eds) Genetics of Male Infertility. Springer, Cham. https://doi.org/10.1007/978-3-030-37972-8_2

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  • DOI: https://doi.org/10.1007/978-3-030-37972-8_2

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