Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females.
Identifieur interne : 00DE60 ( Main/Exploration ); précédent : 00DE59; suivant : 00DE61Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females.
Auteurs : J. Levilliers ; B. Quack ; J. Weissenbach ; C. PetitSource :
- Proceedings of the National Academy of Sciences of the United States of America [ 0027-8424 ] ; 1989.
Abstract
Human Y(+) XX maleness has been shown to result from an abnormal terminal Xp-Yp interchange that can occur during paternal meiosis. To test whether human XY females are produced by the same mechanism, we followed the inheritance of paternal pseudoautosomal loci and Xp22.3-specific loci in two XY female patients. Y-specific sequences and the whole pseudoautosomal region of the Y chromosome of their fathers were absent in these patients. However, the entire pseudoautosomal region and the X-specific part of Xp22.3 distal to the STS locus had been inherited from the X chromosome of the respective father. This Xp transfer to Yp was established by in situ hybridization experiments showing an Xp22.3-specific locus on Yp in both cases. Such results demonstrate that an abnormal and terminal X-Y interchange generated the rearranged Y chromosome of these two XY females; they appear to be the true countertype of Y(+) XX males. In these patients, who also display some Turner stigmata, the Y gene(s) involved in this phenotype is (are) localized to interval 1 or 2. If the loss of such gene(s) affects fetal viability, their proximity to TDF would account for the underrepresentation of interchange 46,XY females compared with Y(+) XX males.
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PubMed: 2928333
PubMed Central: 286899
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Levilliers</name></author><author><name sortKey="Quack, B" sort="Quack, B" uniqKey="Quack B" first="B" last="Quack">B. Quack</name></author><author><name sortKey="Weissenbach, J" sort="Weissenbach, J" uniqKey="Weissenbach J" first="J" last="Weissenbach">J. Weissenbach</name></author><author><name sortKey="Petit, C" sort="Petit, C" uniqKey="Petit C" first="C" last="Petit">C. Petit</name></author></analytic><series><title level="j">Proceedings of the National Academy of Sciences of the United States of America</title><idno type="ISSN">0027-8424</idno><idno type="eISSN">1091-6490</idno><imprint><date when="1989">1989</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Human Y(+) XX maleness has been shown to result from an abnormal terminal Xp-Yp interchange that can occur during paternal meiosis. 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