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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background</title><author><name sortKey="Krausz, Csilla" sort="Krausz, Csilla" uniqKey="Krausz C" first="Csilla" last="Krausz">Csilla Krausz</name><affiliation><nlm:aff id="A1">Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6 Florence 50139, Italy</nlm:aff></affiliation></author><author><name sortKey="Giachini, Claudia" sort="Giachini, Claudia" uniqKey="Giachini C" first="Claudia" last="Giachini">Claudia Giachini</name><affiliation><nlm:aff id="A1">Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6 Florence 50139, Italy</nlm:aff></affiliation></author><author><name sortKey="Xue, Yali" sort="Xue, Yali" uniqKey="Xue Y" first="Yali" last="Xue">Yali Xue</name><affiliation><nlm:aff id="A2">The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus Hinxton Cambs. CB10 1SA, UK</nlm:aff></affiliation></author><author><name sortKey="O Rya, Moira K" sort="O Rya, Moira K" uniqKey="O Rya M" first="Moira K." last="O Rya">Moira K. O Rya</name><affiliation><nlm:aff id="A3">Monash Institute of Medical Research and the Australian Research Centre of Excellence in Biotechnology and Development, Monash University, Clayton 3168.</nlm:aff></affiliation></author><author><name sortKey="Gromoll, Joerg" sort="Gromoll, Joerg" uniqKey="Gromoll J" first="Joerg" last="Gromoll">Joerg Gromoll</name><affiliation><nlm:aff id="A4">Institute of Reproductive Medicine University of Münster Domagkstraße 11 D-48129 Münster, Germany</nlm:aff></affiliation></author><author><name sortKey="Rajpert De Meyts, Ewa" sort="Rajpert De Meyts, Ewa" uniqKey="Rajpert De Meyts E" first="Ewa" last="Rajpert-De Meyts">Ewa Rajpert-De Meyts</name><affiliation><nlm:aff id="A5">Dept. of Growth and Reproduction Copenhagen, University Hospital Rigshospitalet, Section GR-5064 9 Blegdamsvej DK-2100 Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Oliva, Rafael" sort="Oliva, Rafael" uniqKey="Oliva R" first="Rafael" last="Oliva">Rafael Oliva</name><affiliation><nlm:aff id="A6">Human Genetics Research Group, Biochemistry and Molecular Genetics Service, Hospital Clínic, Faculty of Medicine, University of Barcelona and IDIBAPS, Casanova 143, 08036, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Aknin Seifer, Isabelle" sort="Aknin Seifer, Isabelle" uniqKey="Aknin Seifer I" first="Isabelle" last="Aknin-Seifer">Isabelle Aknin-Seifer</name><affiliation><nlm:aff id="A7">Laboratoire de Biologie de la Reproduction, Pôle Mère Enfant, Laboratoire de Génétique et Biologie Moléculaire Section molécules, niveau 1 Plateau de Biologie Hôpital Nord 42055 Saint-Etienne, France</nlm:aff></affiliation></author><author><name sortKey="Erdei, Edit" sort="Erdei, Edit" uniqKey="Erdei E" first="Edit" last="Erdei">Edit Erdei</name><affiliation><nlm:aff id="A8">Andrology-Urology Division, National Health Center, Budapest, Hungary</nlm:aff></affiliation></author><author><name sortKey="Jorgensen, Niels" sort="Jorgensen, Niels" uniqKey="Jorgensen N" first="Niels" last="Jorgensen">Niels Jorgensen</name><affiliation><nlm:aff id="A5">Dept. of Growth and Reproduction Copenhagen, University Hospital Rigshospitalet, Section GR-5064 9 Blegdamsvej DK-2100 Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Simoni, Manuela" sort="Simoni, Manuela" uniqKey="Simoni M" first="Manuela" last="Simoni">Manuela Simoni</name><affiliation><nlm:aff id="A4">Institute of Reproductive Medicine University of Münster Domagkstraße 11 D-48129 Münster, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A9">University of Modena and Reggio Emilia Dept. of Medicine, Endocrinology, Metabolism and Geriatrics Via Giardini 1355 I - 41100 MODENA, Italy</nlm:aff></affiliation></author><author><name sortKey="Ballesca, Jose Luis" sort="Ballesca, Jose Luis" uniqKey="Ballesca J" first="José Luis" last="Ballescà">José Luis Ballescà</name><affiliation><nlm:aff id="A10">Institut Clínic of Gynecology, Obstetrics and Neonatology, Hospital Clínic, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Levy, Rachel" sort="Levy, Rachel" uniqKey="Levy R" first="Rachel" last="Levy">Rachel Levy</name><affiliation><nlm:aff id="A11">Laboratoire d’Histologie Embryologie Cytogénétique Biologie de la reproduction CECOS CHU Jean Verdier Avenue 14 Juillet 93143, France</nlm:aff></affiliation></author><author><name sortKey="Balercia, Giancarlo" sort="Balercia, Giancarlo" uniqKey="Balercia G" first="Giancarlo" last="Balercia">Giancarlo Balercia</name><affiliation><nlm:aff id="A12">Division of Endocrinology, Institute of Internal Medicine Polytechnic University of Marche, Ancona, Italy</nlm:aff></affiliation></author><author><name sortKey="Piomboni, Paola" sort="Piomboni, Paola" uniqKey="Piomboni P" first="Paola" last="Piomboni">Paola Piomboni</name><affiliation><nlm:aff id="A13">Dept. of Surgery - Biology Section, University of Siena, Italy</nlm:aff></affiliation></author><author><name sortKey="Nieschlag, Eberhard" sort="Nieschlag, Eberhard" uniqKey="Nieschlag E" first="Eberhard" last="Nieschlag">Eberhard Nieschlag</name><affiliation><nlm:aff id="A4">Institute of Reproductive Medicine University of Münster Domagkstraße 11 D-48129 Münster, Germany</nlm:aff></affiliation></author><author><name sortKey="Forti, Gianni" sort="Forti, Gianni" uniqKey="Forti G" first="Gianni" last="Forti">Gianni Forti</name><affiliation><nlm:aff id="A1">Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6 Florence 50139, Italy</nlm:aff></affiliation></author><author><name sortKey="Mclachlan, Rob" sort="Mclachlan, Rob" uniqKey="Mclachlan R" first="Rob" last="Mclachlan">Rob Mclachlan</name><affiliation><nlm:aff id="A14">Prince Henry’s Institute, Monash Medical Centre, Clayton 3168. Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Monash IVF Pty Ltd, Richmond, Australia 3121</nlm:aff></affiliation></author><author><name sortKey="Tyler Smith, Chris" sort="Tyler Smith, Chris" uniqKey="Tyler Smith C" first="Chris" last="Tyler-Smith">Chris Tyler-Smith</name><affiliation><nlm:aff id="A2">The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus Hinxton Cambs. CB10 1SA, UK</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">18782837</idno><idno type="pmc">2698292</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2698292</idno><idno type="RBID">PMC:2698292</idno><idno type="doi">10.1136/jmg.2008.059915</idno><date when="2008">2008</date><idno type="wicri:Area/Pmc/Corpus">001F16</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001F16</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background</title><author><name sortKey="Krausz, Csilla" sort="Krausz, Csilla" uniqKey="Krausz C" first="Csilla" last="Krausz">Csilla Krausz</name><affiliation><nlm:aff id="A1">Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6 Florence 50139, Italy</nlm:aff></affiliation></author><author><name sortKey="Giachini, Claudia" sort="Giachini, Claudia" uniqKey="Giachini C" first="Claudia" last="Giachini">Claudia Giachini</name><affiliation><nlm:aff id="A1">Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6 Florence 50139, Italy</nlm:aff></affiliation></author><author><name sortKey="Xue, Yali" sort="Xue, Yali" uniqKey="Xue Y" first="Yali" last="Xue">Yali Xue</name><affiliation><nlm:aff id="A2">The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus Hinxton Cambs. CB10 1SA, UK</nlm:aff></affiliation></author><author><name sortKey="O Rya, Moira K" sort="O Rya, Moira K" uniqKey="O Rya M" first="Moira K." last="O Rya">Moira K. O Rya</name><affiliation><nlm:aff id="A3">Monash Institute of Medical Research and the Australian Research Centre of Excellence in Biotechnology and Development, Monash University, Clayton 3168.</nlm:aff></affiliation></author><author><name sortKey="Gromoll, Joerg" sort="Gromoll, Joerg" uniqKey="Gromoll J" first="Joerg" last="Gromoll">Joerg Gromoll</name><affiliation><nlm:aff id="A4">Institute of Reproductive Medicine University of Münster Domagkstraße 11 D-48129 Münster, Germany</nlm:aff></affiliation></author><author><name sortKey="Rajpert De Meyts, Ewa" sort="Rajpert De Meyts, Ewa" uniqKey="Rajpert De Meyts E" first="Ewa" last="Rajpert-De Meyts">Ewa Rajpert-De Meyts</name><affiliation><nlm:aff id="A5">Dept. of Growth and Reproduction Copenhagen, University Hospital Rigshospitalet, Section GR-5064 9 Blegdamsvej DK-2100 Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Oliva, Rafael" sort="Oliva, Rafael" uniqKey="Oliva R" first="Rafael" last="Oliva">Rafael Oliva</name><affiliation><nlm:aff id="A6">Human Genetics Research Group, Biochemistry and Molecular Genetics Service, Hospital Clínic, Faculty of Medicine, University of Barcelona and IDIBAPS, Casanova 143, 08036, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Aknin Seifer, Isabelle" sort="Aknin Seifer, Isabelle" uniqKey="Aknin Seifer I" first="Isabelle" last="Aknin-Seifer">Isabelle Aknin-Seifer</name><affiliation><nlm:aff id="A7">Laboratoire de Biologie de la Reproduction, Pôle Mère Enfant, Laboratoire de Génétique et Biologie Moléculaire Section molécules, niveau 1 Plateau de Biologie Hôpital Nord 42055 Saint-Etienne, France</nlm:aff></affiliation></author><author><name sortKey="Erdei, Edit" sort="Erdei, Edit" uniqKey="Erdei E" first="Edit" last="Erdei">Edit Erdei</name><affiliation><nlm:aff id="A8">Andrology-Urology Division, National Health Center, Budapest, Hungary</nlm:aff></affiliation></author><author><name sortKey="Jorgensen, Niels" sort="Jorgensen, Niels" uniqKey="Jorgensen N" first="Niels" last="Jorgensen">Niels Jorgensen</name><affiliation><nlm:aff id="A5">Dept. of Growth and Reproduction Copenhagen, University Hospital Rigshospitalet, Section GR-5064 9 Blegdamsvej DK-2100 Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Simoni, Manuela" sort="Simoni, Manuela" uniqKey="Simoni M" first="Manuela" last="Simoni">Manuela Simoni</name><affiliation><nlm:aff id="A4">Institute of Reproductive Medicine University of Münster Domagkstraße 11 D-48129 Münster, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A9">University of Modena and Reggio Emilia Dept. of Medicine, Endocrinology, Metabolism and Geriatrics Via Giardini 1355 I - 41100 MODENA, Italy</nlm:aff></affiliation></author><author><name sortKey="Ballesca, Jose Luis" sort="Ballesca, Jose Luis" uniqKey="Ballesca J" first="José Luis" last="Ballescà">José Luis Ballescà</name><affiliation><nlm:aff id="A10">Institut Clínic of Gynecology, Obstetrics and Neonatology, Hospital Clínic, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Levy, Rachel" sort="Levy, Rachel" uniqKey="Levy R" first="Rachel" last="Levy">Rachel Levy</name><affiliation><nlm:aff id="A11">Laboratoire d’Histologie Embryologie Cytogénétique Biologie de la reproduction CECOS CHU Jean Verdier Avenue 14 Juillet 93143, France</nlm:aff></affiliation></author><author><name sortKey="Balercia, Giancarlo" sort="Balercia, Giancarlo" uniqKey="Balercia G" first="Giancarlo" last="Balercia">Giancarlo Balercia</name><affiliation><nlm:aff id="A12">Division of Endocrinology, Institute of Internal Medicine Polytechnic University of Marche, Ancona, Italy</nlm:aff></affiliation></author><author><name sortKey="Piomboni, Paola" sort="Piomboni, Paola" uniqKey="Piomboni P" first="Paola" last="Piomboni">Paola Piomboni</name><affiliation><nlm:aff id="A13">Dept. of Surgery - Biology Section, University of Siena, Italy</nlm:aff></affiliation></author><author><name sortKey="Nieschlag, Eberhard" sort="Nieschlag, Eberhard" uniqKey="Nieschlag E" first="Eberhard" last="Nieschlag">Eberhard Nieschlag</name><affiliation><nlm:aff id="A4">Institute of Reproductive Medicine University of Münster Domagkstraße 11 D-48129 Münster, Germany</nlm:aff></affiliation></author><author><name sortKey="Forti, Gianni" sort="Forti, Gianni" uniqKey="Forti G" first="Gianni" last="Forti">Gianni Forti</name><affiliation><nlm:aff id="A1">Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6 Florence 50139, Italy</nlm:aff></affiliation></author><author><name sortKey="Mclachlan, Rob" sort="Mclachlan, Rob" uniqKey="Mclachlan R" first="Rob" last="Mclachlan">Rob Mclachlan</name><affiliation><nlm:aff id="A14">Prince Henry’s Institute, Monash Medical Centre, Clayton 3168. Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A15">Monash IVF Pty Ltd, Richmond, Australia 3121</nlm:aff></affiliation></author><author><name sortKey="Tyler Smith, Chris" sort="Tyler Smith, Chris" uniqKey="Tyler Smith C" first="Chris" last="Tyler-Smith">Chris Tyler-Smith</name><affiliation><nlm:aff id="A2">The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus Hinxton Cambs. CB10 1SA, UK</nlm:aff></affiliation></author></analytic><series><title level="j">Journal of medical genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title><p id="P1">Previous studies have compared sperm phenotypes between men with partial [<xref ref-type="bibr" rid="R1">1</xref>] deletions within the <italic>AZF</italic>c region of the Y chromosome with non-carriers, with variable results. Here, we have investigated a separate question, the basis of the variation in sperm phenotype within gr/gr deletion carriers, which ranges from normozoospermia to azoospermia. Differences in the genes removed by independent gr/gr deletions, the occurrence of subsequent duplications or the presence of linked modifying variants elsewhere on the chromosome have been suggested as possible causal factors. We set out to test these possibilities in a large sample of gr/gr deletion carriers with known phenotypes spanning the complete range.</p></sec><sec id="S2"><title>Results</title><p id="P2">We assembled a collection of 169 men diagnosed with gr/gr deletions from six centres in Europe and one in Australia, and characterized the <italic>DAZ</italic> and <italic>CDY1</italic> copies retained, the presence or absence of duplications and the Y-chromosomal haplogroup. Although our study had good power to detect factors that accounted for ≥5.5% of the variation in sperm concentration, no such factor was detected. A negative effect of gr/gr deletions followed by b2/b4 duplication was observed within the normospermic group, which remains to be further explored in a larger study population. Finally, we observed significant geographical differences in the frequency of different subtypes of gr/gr deletions which may have relevance for the interpretation of case control studies dealing with admixed populations.</p></sec><sec id="S3"><title>Conclusions</title><p id="P3">We conclude that the phenotypic variation of gr/gr carriers in men of European origin is largely independent of the Y-chromosomal background.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">2985087R</journal-id><journal-id journal-id-type="pubmed-jr-id">4945</journal-id><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-id journal-id-type="iso-abbrev">J. Med. Genet.</journal-id><journal-title-group><journal-title>Journal of medical genetics</journal-title></journal-title-group><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn></journal-meta><article-meta><article-id pub-id-type="pmid">18782837</article-id><article-id pub-id-type="pmc">2698292</article-id><article-id pub-id-type="doi">10.1136/jmg.2008.059915</article-id><article-id pub-id-type="manuscript">UKMS5188</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Krausz</surname><given-names>Csilla</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="corresp" rid="CR1">*</xref></contrib><contrib contrib-type="author"><name><surname>Giachini</surname><given-names>Claudia</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Xue</surname><given-names>Yali</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>O’Brya</surname><given-names>Moira K.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Gromoll</surname><given-names>Joerg</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Rajpert-de Meyts</surname><given-names>Ewa</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Oliva</surname><given-names>Rafael</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Aknin-Seifer</surname><given-names>Isabelle</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Erdei</surname><given-names>Edit</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Jorgensen</surname><given-names>Niels</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Simoni</surname><given-names>Manuela</given-names></name><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Ballescà</surname><given-names>José Luis</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Levy</surname><given-names>Rachel</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Balercia</surname><given-names>Giancarlo</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Piomboni</surname><given-names>Paola</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Nieschlag</surname><given-names>Eberhard</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Forti</surname><given-names>Gianni</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>McLachlan</surname><given-names>Rob</given-names></name><xref ref-type="aff" rid="A14">14</xref><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Tyler-Smith</surname><given-names>Chris</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib></contrib-group><aff id="A1"><label>1</label>Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6 Florence 50139, Italy</aff><aff id="A2"><label>2</label>The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus Hinxton Cambs. CB10 1SA, UK</aff><aff id="A3"><label>3</label>Monash Institute of Medical Research and the Australian Research Centre of Excellence in Biotechnology and Development, Monash University, Clayton 3168.</aff><aff id="A4"><label>4</label>Institute of Reproductive Medicine University of Münster Domagkstraße 11 D-48129 Münster, Germany</aff><aff id="A5"><label>5</label>Dept. of Growth and Reproduction Copenhagen, University Hospital Rigshospitalet, Section GR-5064 9 Blegdamsvej DK-2100 Copenhagen, Denmark</aff><aff id="A6"><label>6</label>Human Genetics Research Group, Biochemistry and Molecular Genetics Service, Hospital Clínic, Faculty of Medicine, University of Barcelona and IDIBAPS, Casanova 143, 08036, Barcelona, Spain</aff><aff id="A7"><label>7</label>Laboratoire de Biologie de la Reproduction, Pôle Mère Enfant, Laboratoire de Génétique et Biologie Moléculaire Section molécules, niveau 1 Plateau de Biologie Hôpital Nord 42055 Saint-Etienne, France</aff><aff id="A8"><label>8</label>Andrology-Urology Division, National Health Center, Budapest, Hungary</aff><aff id="A9"><label>9</label>University of Modena and Reggio Emilia Dept. of Medicine, Endocrinology, Metabolism and Geriatrics Via Giardini 1355 I - 41100 MODENA, Italy</aff><aff id="A10"><label>10</label>Institut Clínic of Gynecology, Obstetrics and Neonatology, Hospital Clínic, Barcelona, Spain</aff><aff id="A11"><label>11</label>Laboratoire d’Histologie Embryologie Cytogénétique Biologie de la reproduction CECOS CHU Jean Verdier Avenue 14 Juillet 93143, France</aff><aff id="A12"><label>12</label>Division of Endocrinology, Institute of Internal Medicine Polytechnic University of Marche, Ancona, Italy</aff><aff id="A13"><label>13</label>Dept. of Surgery - Biology Section, University of Siena, Italy</aff><aff id="A14"><label>14</label>Prince Henry’s Institute, Monash Medical Centre, Clayton 3168. Australia</aff><aff id="A15"><label>15</label>Monash IVF Pty Ltd, Richmond, Australia 3121</aff><author-notes><corresp id="CR1"><label>*</label>For correspondence: Csilla Krausz, Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6 Florence 50139, Italy; Phone: +39-055-4271485; Fax: +39-055-4271371; e-mail: <email>c.krausz@dfc.unifi.it</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>12</day><month>6</month><year>2009</year></pub-date><pub-date pub-type="epub"><day>09</day><month>9</month><year>2008</year></pub-date><pub-date pub-type="ppub"><month>1</month><year>2009</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>7</month><year>2009</year></pub-date><volume>46</volume><issue>1</issue><fpage>21</fpage><lpage>31</lpage><abstract><sec id="S1"><title>Background</title><p id="P1">Previous studies have compared sperm phenotypes between men with partial [<xref ref-type="bibr" rid="R1">1</xref>] deletions within the <italic>AZF</italic>c region of the Y chromosome with non-carriers, with variable results. Here, we have investigated a separate question, the basis of the variation in sperm phenotype within gr/gr deletion carriers, which ranges from normozoospermia to azoospermia. Differences in the genes removed by independent gr/gr deletions, the occurrence of subsequent duplications or the presence of linked modifying variants elsewhere on the chromosome have been suggested as possible causal factors. We set out to test these possibilities in a large sample of gr/gr deletion carriers with known phenotypes spanning the complete range.</p></sec><sec id="S2"><title>Results</title><p id="P2">We assembled a collection of 169 men diagnosed with gr/gr deletions from six centres in Europe and one in Australia, and characterized the <italic>DAZ</italic> and <italic>CDY1</italic> copies retained, the presence or absence of duplications and the Y-chromosomal haplogroup. Although our study had good power to detect factors that accounted for ≥5.5% of the variation in sperm concentration, no such factor was detected. A negative effect of gr/gr deletions followed by b2/b4 duplication was observed within the normospermic group, which remains to be further explored in a larger study population. Finally, we observed significant geographical differences in the frequency of different subtypes of gr/gr deletions which may have relevance for the interpretation of case control studies dealing with admixed populations.</p></sec><sec id="S3"><title>Conclusions</title><p id="P3">We conclude that the phenotypic variation of gr/gr carriers in men of European origin is largely independent of the Y-chromosomal background.</p></sec></abstract><kwd-group><kwd>gr/gr deletions</kwd><kwd>male infertility</kwd><kwd>spermatogenesis</kwd><kwd>genetics</kwd><kwd>polymorphisms</kwd><kwd><italic>AZFc</italic></kwd></kwd-group><funding-group><award-group><funding-source country="United Kingdom">Wellcome Trust : </funding-source><award-id>077009 || WT</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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