Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females.
Identifieur interne : 001A01 ( Pmc/Curation ); précédent : 001A00; suivant : 001A02Exchange 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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<front><journal-meta><journal-id journal-id-type="nlm-ta">Proc Natl Acad Sci U S A</journal-id><journal-title>Proceedings of the National Academy of Sciences of the United States of America</journal-title><issn pub-type="ppub">0027-8424</issn><issn pub-type="epub">1091-6490</issn></journal-meta><article-meta><article-id pub-id-type="pmid">2928333</article-id><article-id pub-id-type="pmc">286899</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females.</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Levilliers</surname><given-names>J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Quack</surname><given-names>B</given-names></name></contrib><contrib contrib-type="author"><name><surname>Weissenbach</surname><given-names>J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Petit</surname><given-names>C</given-names></name></contrib></contrib-group><aff>Institut National de la Santé et de la Recherche Médicale U163, Centre National de la Recherche Scientifique UA 271, Paris, France.</aff><pub-date pub-type="ppub"><month>4</month><year>1989</year></pub-date><volume>86</volume><issue>7</issue><fpage>2296</fpage><lpage>2300</lpage><abstract><p>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.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="pnas00247-0183-a" xlink:role="2297"></graphic></fig><fig id="F2"><graphic xlink:href="pnas00247-0183-b" xlink:role="2297"></graphic></fig><fig id="F3"><graphic xlink:href="pnas00247-0184-a" xlink:role="2298"></graphic></fig><fig id="F4"><graphic xlink:href="pnas00247-0184-b" xlink:role="2298"></graphic></fig><fig id="F5"><graphic xlink:href="pnas00247-0184-c" xlink:role="2298"></graphic></fig><fig id="F6"><graphic xlink:href="pnas00247-0184-d" xlink:role="2298"></graphic></fig><fig id="F7"><graphic xlink:href="pnas00247-0185-a" xlink:role="2299"></graphic></fig><fig id="F8"><graphic xlink:href="pnas00247-0185-b" xlink:role="2299"></graphic></fig><fig id="F9"><graphic xlink:href="pnas00247-0185-c" xlink:role="2299"></graphic></fig><fig id="F10"><graphic xlink:href="pnas00247-0185-d" xlink:role="2299"></graphic></fig><fig id="F11"><graphic xlink:href="pnas00247-0185-e" xlink:role="2299"></graphic></fig></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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