Abstract:
:XX males and XY females have a sex reversal disorder which can be caused by an abnormal interchange between the X and the Y chromosomes. We have isolated and characterized a novel gene on the Y chromosome, PRKY. This gene is highly homologous to a previously isolated gene from Xp22.3, PRKX, and represents a member of the cAMP-dependent serine threonine protein kinase gene family. Abnormal interchange can occur anywhere on Xp/Yp proximal to SRY. We can show that abnormal interchange happens particularly frequently between PRKX and PRKY. In a collection of 26 XX males and four XY females, between 27 and 35% of the interchanges take place between PRK homologues but at different sites within the gene. PRKY and PRKX are located far from the pseudoautosomal region where XY exchange normally takes place. The unprecedented high sequence identity and identical orientation of PRKY to its homologous partner on the X chromosome, PRKX, explains the high frequency of abnormal pairing and subsequent ectopic recombination, leading to XX males and XY females and to the highest rate of recombination outside the pseudoautosomal region.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Schiebel K,Winkelmann M,Mertz A,Xu X,Page DC,Weil D,Petit C,Rappold GAdoi
10.1093/hmg/6.11.1985subject
Has Abstractpub_date
1997-10-01 00:00:00pages
1985-9issue
11eissn
0964-6906issn
1460-2083pii
dda248journal_volume
6pub_type
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