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Sex Chromosomal Genes in Male Infertility

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Male Infertility: Understanding, Causes and Treatment

Abstract

Y chromosome harbors the male-specific region (MSY) that regulates male sex determination and spermatogenesis. Y microdeletions are the most common cause of male infertility. These deletions are found in 15–20% of patients with idiopathic azoospermia and 7–10% of patients with severe oligozoospermia. Apart from microdeletions, partial deletions in the AZFc region result in loss of multiple copies of Y genes and increase the risk of infertility. A few studies have suggested that routine screening of these deletions could help in understanding the etiology, offering counseling and managing infertility by natural or assisted methods. X being a homologue chromosome of Y has drawn attention regarding the presence of spermatogenic genes. A number of theories and speculations have been put forward that are now supported by the identification of a number of testis-specific or testis-predominant genes present on the X chromosome. This chapter provides an overview of the Y deletions and X chromosome genes that affect spermatogenesis or male fertility.

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Acknowledgments

The authors would like to thank the Council of Scientific and Industrial Research (CSIR), Govt. of India, for financial help under the network project, PROGRAM (BSC0101).

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Authors and Affiliations

  1. Male Reproductive Biology Laboratory, CSIR-Central Drug Research Institute, Lucknow, Uttar Pradesh, India

    Sandeep Kumar Bansal & Rajender Singh

  2. Department of Molecular and Human Genetics, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India

    Vertika Singh & Kiran Singh

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  1. Sandeep Kumar Bansal
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  2. Vertika Singh
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  4. Rajender Singh
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Correspondence to Rajender Singh .

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

    RAJENDER SINGH

  2. Department of Molecular and Human Genetics, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India

    Kiran Singh

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Bansal, S.K., Singh, V., Singh, K., Singh, R. (2017). Sex Chromosomal Genes in Male Infertility. In: SINGH, R., Singh, K. (eds) Male Infertility: Understanding, Causes and Treatment. Springer, Singapore. https://doi.org/10.1007/978-981-10-4017-7_15

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