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Current Pharmacogenomics and Personalized Medicine

Current Pharmacogenomics and Personalized Medicine

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ISSN (Print): 1875-6921
ISSN (Online): 1875-6913

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Review Article

Evolutionary Study on the Y Chromosome: A Comprehensive Review

Author(s): Ansuman Sahu, Bimalendu Chowdhury*, Nitish Sahu, Sanjiv Kumar Panda and Krishna Chandra Pandaauthors OrcID

Volume 23, 2026

Published on: 22 January, 2026

Article ID: e18756921389203

Pages: 18

DOI: 10.2174/0118756921389203251118065730

Price: $65

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Abstract

Introduction: The Y chromosome, essential for male sex determination and reproduction, has undergone significant evolutionary shrinkage, losing most of its genetic content. This review explores the biological and historical significance of the Y chromosome, its role in male-specific traits, spermatogenesis, and secondary sexual characteristics. It also examines the implications of its shrinking for male infertility, cancer risk, and aging-related diseases, along with potential pharmacological and genetic solutions.

Methods: A comprehensive review of existing literature, cross-species studies, and recent advancements in genetics and medical research was conducted. Based on mechanisms of Y chromosome degeneration, its impact on health, and possible therapeutic interventions, including hormone replacement therapies, assisted reproductive technologies, and gene-editing techniques like CRISPR.

Results: Despite reducing from 1,400 to 55 active genes, the Y chromosome retains key functions in testosterone production and sperm maturation through genes like SRY, DAZ, and TSPY. Studies suggest alternative mechanisms for male traits in the absence of the Y chromosome, raising questions about its future in humans.

Discussion: The shrinkage is linked to infertility, increased cancer risk, and aging-related disorders. Potential pharmacological approaches involve hormone replacement therapies, assisted reproductive technologies, and gene-editing techniques like CRISPR.

Conclusion: The shrinking Y chromosome poses challenges to male health, but scientific advancements offer hope for mitigating its effects. Integrating genetic research, evolutionary studies, and medical innovations is crucial for addressing Y-linked disorders and guiding the future of male health and reproduction.

Keywords: Y chromosome shrinkage, male infertility, mosaic loss of Y chromosome, genetic mechanisms, personalized medicine, future of Y chromosome.

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