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Spermatozoal Chromatin Structure: Role in Sperm Functions and Fertilization

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Genetics of Male Infertility

Abstract

It is well known that sperm is a vehicle that delivers the haploid paternal genome to the oocyte and that an intact and complete genetic material is required for normal embryo development. During spermiogenesis, the formation of mature spermatozoa results in an extreme compacted DNA in sperm nucleus with respect to somatic nucleus. To reach such compaction, a dramatic reorganization occurs in developing spermatids where the vast majority of somatic histones are replaced by small basic proteins called protamines. The improper histone replacement or a deficient protamination may not only be a marker of abnormal spermiogenesis but also affect oocyte fertilization and reproductive outcomes. The paternal genome is considered to be inactive, and the role of retained histones emerged in recent studies demonstrating that sperm histones inherited by the embryo deliver epigenetic marks involved in the activation of key genes of embryogenesis. Consequently, the chromatin status of spermatozoa may affect not only the process of oocyte fertilization but also the development and the health of the offspring indicating that the role of sperm chromatin is more complex than previously believed. In this chapter, we illustrate the sperm chromatin structure and organization. Additionally, we describe in details the sperm chromatin abnormalities frequently found in human mature spermatozoa and their possible causes. We also review the evidences reported in literature regarding the association between sperm DNA abnormalities and male infertility as well as natural and assisted reproduction outcomes.

Finally, we depict the actual tests used in the research laboratories to detect such sperm chromatin anomalies in order to better understand their potential and clinical application in the routine practice for the diagnosis of male reproductive health.

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Authors and Affiliations

  1. Andrologia, Endocrinologia femminile e Incongruenza di genere- Dipartimento Materno Infantile, Azienda Ospedaliero Universitaria Careggi, Florence, Italy

    Sara Marchiani

  2. Experimental and Clinical Medicine, University of Florence, Florence, Italy

    Lara Tamburrino & Elisabetta Baldi

  3. Experimental and Clinical Biomedical Sciences “Mario Serio”, University of Florence, Florence, Italy

    Monica Muratori

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  1. Sara Marchiani
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  2. Lara Tamburrino
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  3. Monica Muratori
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  4. Elisabetta Baldi
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Correspondence to Elisabetta Baldi .

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Editors and Affiliations

  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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Marchiani, S., Tamburrino, L., Muratori, M., Baldi, E. (2020). Spermatozoal Chromatin Structure: Role in Sperm Functions and Fertilization. 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_3

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  • DOI: https://doi.org/10.1007/978-3-030-37972-8_3

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-37971-1

  • Online ISBN: 978-3-030-37972-8

  • eBook Packages: MedicineMedicine (R0)

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