Sexual and somatic determinants of the human Y chromosome: studies in a 46,XYp- phenotypic female.
Identifieur interne : 004653 ( Pmc/Checkpoint ); précédent : 004652; suivant : 004654Sexual and somatic determinants of the human Y chromosome: studies in a 46,XYp- phenotypic female.
Auteurs : R G Rosenfeld ; L. Luzzatti ; R L Hintz ; O J Miller ; G C Koo ; S S WachtelSource :
- American Journal of Human Genetics [ 0002-9297 ] ; 1979.
Abstract
A case of a 46,XYp- phenotypic female provided an opportunity to evaluate both sexual and somatic determinants for the Y chromosome. The patient had multiple stigmata of Turner syndrome, but normal stature. Laparotomy revealed a normal uterus and tubes, with 1.5 cm undifferentiated gonads. Serological tests for H-Y antigen (ostensibly the product of Y-chromosomal testis-determining genes) indicated absence of the H-Y+ phenotype normally associated with the intact Y chromosome. We conclude that genes exist on the short arm of the human Y chromosome which both suppress some of the somatic stigmata of Turner syndrome and determine normal expression of H-Y antigen and testicular differentiation of the primitive gonad. Our data are consistent with the view that H-Y genes comprise a family of testis-determinants, and that loss of a critical moiety is inconsistent with normal development of the male gonad.
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PubMed: 573550
PubMed Central: 1685895
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<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-title>American Journal of Human Genetics</journal-title><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn></journal-meta><article-meta><article-id pub-id-type="pmid">573550</article-id><article-id pub-id-type="pmc">1685895</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Sexual and somatic determinants of the human Y chromosome: studies in a 46,XYp- phenotypic female.</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Rosenfeld</surname><given-names>R G</given-names></name></contrib><contrib contrib-type="author"><name><surname>Luzzatti</surname><given-names>L</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hintz</surname><given-names>R L</given-names></name></contrib><contrib contrib-type="author"><name><surname>Miller</surname><given-names>O J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Koo</surname><given-names>G C</given-names></name></contrib><contrib contrib-type="author"><name><surname>Wachtel</surname><given-names>S S</given-names></name></contrib></contrib-group><pub-date pub-type="ppub"><month>7</month><year>1979</year></pub-date><volume>31</volume><issue>4</issue><fpage>458</fpage><lpage>468</lpage><abstract><p>A case of a 46,XYp- phenotypic female provided an opportunity to evaluate both sexual and somatic determinants for the Y chromosome. The patient had multiple stigmata of Turner syndrome, but normal stature. Laparotomy revealed a normal uterus and tubes, with 1.5 cm undifferentiated gonads. Serological tests for H-Y antigen (ostensibly the product of Y-chromosomal testis-determining genes) indicated absence of the H-Y+ phenotype normally associated with the intact Y chromosome. We conclude that genes exist on the short arm of the human Y chromosome which both suppress some of the somatic stigmata of Turner syndrome and determine normal expression of H-Y antigen and testicular differentiation of the primitive gonad. Our data are consistent with the view that H-Y genes comprise a family of testis-determinants, and that loss of a critical moiety is inconsistent with normal development of the male gonad.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><label>Fig. 1</label><graphic xlink:href="ajhg00196-0061-a" xlink:role="459"></graphic></fig><fig id="F2"><label>Fig. 2</label><graphic xlink:href="ajhg00196-0062-a" xlink:role="460"></graphic></fig><fig id="F3"><label>Fig. 3</label><graphic xlink:href="ajhg00196-0062-b" xlink:role="460"></graphic></fig><fig id="F4"><label>Fig. 4</label><graphic xlink:href="ajhg00196-0063-a" xlink:role="461"></graphic></fig><fig id="F5"><label>Fig. 5</label><graphic xlink:href="ajhg00196-0063-b" xlink:role="461"></graphic></fig><fig id="F6"><label>Fig. 6</label><graphic xlink:href="ajhg00196-0064-a" xlink:role="462"></graphic></fig></sec></abstract></article-meta></front></pmc><affiliations><list></list><tree><noCountry><name sortKey="Hintz, R L" sort="Hintz, R L" uniqKey="Hintz R" first="R L" last="Hintz">R L Hintz</name><name sortKey="Koo, G C" sort="Koo, G C" uniqKey="Koo G" first="G C" last="Koo">G C Koo</name><name sortKey="Luzzatti, L" sort="Luzzatti, L" uniqKey="Luzzatti L" first="L" last="Luzzatti">L. Luzzatti</name><name sortKey="Miller, O J" sort="Miller, O J" uniqKey="Miller O" first="O J" last="Miller">O J Miller</name><name sortKey="Rosenfeld, R G" sort="Rosenfeld, R G" uniqKey="Rosenfeld R" first="R G" last="Rosenfeld">R G Rosenfeld</name><name sortKey="Wachtel, S S" sort="Wachtel, S S" uniqKey="Wachtel S" first="S S" last="Wachtel">S S Wachtel</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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