RBMY

RBMY stands for RNA-binding motif protein, Y-linked. It refers to a family of RNA-binding proteins encoded on the Y chromosome, with expression primarily in the male germ line. The RBMY genes are located in the azoospermia factor (AZF) region of the Y chromosome and exist as multiple copies and related pseudogenes, forming a multicopy gene cluster. Community annotations describe RBMY proteins as containing an RNA recognition motif (RRM) and regions rich in sequences that influence RNA interactions.

Expression and function are largely testis-specific, with transcripts detected in developing sperm cells. The proteins are believed to participate in post-transcriptional regulation during spermatogenesis, including aspects of RNA processing, splicing, transport, localization, and stability of germ cell transcripts. The precise molecular roles of RBMY are still being investigated, but its activity is considered important for proper germ cell development in many species.

Evolutionarily, RBMY is a rapidly evolving, multicopy gene family on the Y chromosome. Copy number and sequence variation among individuals and populations are common, reflecting the dynamic nature of the Y-linked gene repertoire. Because of its Y-chromosome specificity and copy-number diversity, RBMY has been used in population genetics and forensic research as a marker for paternal lineage.

Clinical relevance is linked to the AZF region, where deletions, rearrangements, or copy-number changes affecting RBMY can be associated with impaired spermatogenesis in some cases. However, infertility is typically tied to broader AZF deletions, and the exact contribution of RBMY remains an area of active study.