New review article reveals Y chromosome’s role in cardiovascular and immune function, cancer

The role of sex in human disease is a growing area of research. Although estrogen (in females) and androgens (in males) are often seen as possible causes for such differences, sex chromosomes, including the male-specific Y chromosome, may also play a role. However, it has been difficult to understand how the Y chromosome could contribute to disease in men, in part because it is much more difficult to sequence than all other chromosomes. Thanks to advances in Y chromosome sequencing, research now suggests broad involvement of the chromosome beyond the few specialized functions related to male reproduction that it is usually linked to, according to the authors of a new review article published in Physiological Genomics.

"Recent progress in sequencing has finally made a better understanding of chromosome Y genes possible. This has revealed that chromosome Y genes are broadly expressed in many tissues outside of the testes and correspond to regulators of fundamental processes such as transcription, translation and protein stability," explained study co-author Christian Deschepper, MD. "Evidence is also mounting that chromosome Y variants may relate to diversity in traits as varied as cardiovascular functions, immune cell properties or cancer susceptibility." According to study co-author Jeremy Prokop, PhD, "This review addresses the current status of chromosome Y involvement in human diseases and highlights the animal models needed to better understand the functions and contributions of the chromosome Y genes. We hope this might lead to the development of treatment strategies for human diseases with chromosome Y involvement."

Source: American Physiological Society (APS)