Newswise — 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.”
The study “Chromosome Y genetic variants: impact in animal models and on human disease” is published ahead-of-print in Physiological Genomics.
NOTE TO JOURNALISTS: To schedule an interview with a member of the research team, please contact the APS Communications Office or 301-634-7209. Find more research highlights in the APS Press Room.
Physiology is the study of how molecules, cells, tissues and organs function in health and disease. Established in 1887, the American Physiological Society (APS) was the first U.S. society in the biomedical sciences field. The Society represents more than 11,000 members and publishes 14 peer-reviewed journals with a worldwide readership.
RSS