Abnormal XY Interchange between a Novel Isolated Protein Kinase Gene, PRKY, and Its Homologue, PRKX, Accounts for One Third of All (Y+)XX Males and (Y-)XY Females

摘要: XX males and XY females have a sex reversal disorder which can be caused by an abnormal interchange between the X Y chromosomes. We isolated characterized novel gene on chromosome, PRKY. This is highly homologous to previously from Xp22.3, PRKX, represents member of cAMP-dependent serine threonine protein kinase family. Abnormal occur anywhere Xp/Yp proximal SRY. show that happens particularly frequently PRKX In collection 26 four females, 27 35% interchanges take place PRK homologues but at different sites within gene. PRKY are located far pseudoautosomal region where exchange normally takes place. The unprecedented high sequence identity identical orientation its partner explains frequency pairing subsequent ectopic recombination, leading highest rate recombination outside region.