Genes required for male fertility

Genes required for male fertility refers to a diverse set of genes essential for the production, maturation, and functional competence of male gametes. This category includes genes involved in the complex process of spermatogenesis, such as those regulating meiosis, chromatin remodeling (e.g., Bromodomain testis-specific protein or BRDT), and sperm motility (e.g., Cation channel of sperm or CatSper) [1, 3]. Many of these genes are expressed exclusively or predominantly in the testis or epididymis, making them attractive targets for non-hormonal male contraceptives [13, 19]. For instance, the bromodomain protein BRDT is a key epigenetic regulator whose inhibition by small molecules like JQ1 or NHWD870 leads to reversible infertility by disrupting spermatid differentiation [1, 2]. Similarly, the CatSper ion channel is vital for sperm hyperactivation and egg penetration; its pharmacological blockade by compounds like HC-056456 prevents fertilization without affecting systemic hormone levels [5, 10]. Mutations or deletions in these genes, such as those in the Azoospermia Factor (AZF) regions of the Y chromosome, are major genetic causes of male infertility conditions like azoospermia and oligozoospermia [12, 18].

Other names

Male infertility-associated genesSpermatogenesis-related genesTestis-specific genesMale fertility factors

Inhibition of testis-specific bromodomains (BRDT), blockade of sperm-specific calcium channels (CatSper), disruption of the blood-testis barrier, or inhibition of epididymal proteins (EPPIN).