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Genome Analysis and Human Health pp 133–151Cite as

Genomics of the Human Y Chromosome: Applications and Implications

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Abstract

Mammalian sex chromosomes are often uniquely different from each other in terms of their structural organization and genes related to sex determination and differentiation. For instance, ~78 genes identified on the male-specific region of human Y chromosome (MSY) express mostly in testis and code for ~27 distinct proteins. According to a largely believed hypothesis, human Y chromosome lost most of the genes during its evolution except the ones essential for male sex determination. This evolutionary degeneration of the Y chromosome is commonly linked to its inability to undergo homologous recombination with the X chromosome or any of the autosomes. Due to its “gene-poor” landscape and continuously decreasing size, Y chromosome was hypothesized to disappear in ~10 million years. However, abundant literature from modern day research provides evidence on its continual sustenance. First is the MSY which is a large portion of the Y chromosome, and owing to which Y does not participate in X-Y recombination. Any further reduction in its size would be a serious threat to human existence. Secondly, MSY is a result of segmental duplications (Hurles and Jobling 2003). These duplications lead to gene conversions and thus protect the human Y chromosome. Also, the Y chromosome is dominant as is witnessed by a male phenotype in patients with multiple X but only a single Y chromosome. Moreover, the highly palindromic and repetitive landscape of the Y chromosome leads to enhanced mutation rate which fuels higher levels of polymorphisms (Jobling et al. 2007). The MSY was described in detail by Jobling and Smith in 2003 (Fig. 7.1). Surprisingly, several Y chromosome haplotypes maintain fertility even without essential Y-linked genes. This highlights two facts: repetitive landscape of the Y acts as a buffer for loss of its genes and that Y chromosome to autosomal interactions might be essential for sustenance of male fertility. This chapter describes organizational complexities of the Y chromosome under various normal and disease phenotypes and effect of exogenous/environmental factors in augmenting these complexities. Due to its unique structural organization and nonhomologous nature, the Y chromosome is a unique tool for DNA-based diagnosis under normal and abnormal conditions related to male fertility.

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Competing Interests

No competing interests to be disclosed.

Dr. Sanjay Premi

Dr. Premi is a proficiently trained molecular biologist with eminent experience in human genetics, biochemistry, photobiology, and environmental carcinogens. During his PhD, he pioneered in establishing a buffering effect of chromosomal alterations in offsetting the genotoxic effects of natural radioactivity. In his postdoctoral training, he discovered carcinogenicity of the pigment melanin which was completely unanticipated. He and his colleagues termed it melanin chemiexcitation which generated pyrimidine dimers in complete absence of UV radiation exposure.

Dr. Jyoti Srivastava

Dr. Srivastava is a distinguished cancer biologist with an impressive track record. She is expert in Molecular & Cellular Biology, Biochemistry, and Genomics,with a specific focus on translational medicine. She has published about 30 peer-reviewed publications, scientific reviews, and book-chapters, and received awards and recognition from respectable organizations for scientific achievements.

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Authors and Affiliations

  1. Therapeutic Radiology, Yale Medical School, Yale Cancer Center, Yale University, New Haven, CT, 06511, USA

    Sanjay Premi

  2. Molecular Genetics Laboratory, National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi, 110067, India

    Sanjay Premi, Jyoti Srivastava & Sher Ali

  3. Department of Pharmacology, Yale Medical School, Yale University, New Haven, CT, 06511, USA

    Jyoti Srivastava

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Correspondence to Sanjay Premi or Jyoti Srivastava .

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  1. Department of Cytogenetics, National Reference Laboratory, Dr Lal PathLabs, New Delhi, India

    Leena Rawal

  2. Centre for Interdisciplinary Research in Basic Sciences, Jamia Millia Islamia, New Delhi, India

    Sher Ali

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Premi, S., Srivastava, J., Ali, S. (2017). Genomics of the Human Y Chromosome: Applications and Implications. In: Rawal, L., Ali, S. (eds) Genome Analysis and Human Health. Springer, Singapore. https://doi.org/10.1007/978-981-10-4298-0_7

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