Mutant Cohesin in Premature Ovarian Failure
Few genes have been implicated in sporadic premature ovarian failure. This study implicates STAG3, which encodes a cohesin, a protein that mediates chromosome pairing during meiosis. Premature ovarian failure, the end point of primary ovarian insufficiency, affects approximately 1% of women worldwid...
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| Veröffentlicht in: | The New England journal of medicine Jg. 370; H. 10; S. 943 - 949 |
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| Hauptverfasser: | , , , , , , , , , , , , , |
| Format: | Journal Article |
| Sprache: | Englisch |
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Waltham, MA
Massachusetts Medical Society
06.03.2014
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| Schriftenreihe: | Brief Report |
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| ISSN: | 0028-4793, 1533-4406, 1533-4406 |
| Online-Zugang: | Volltext |
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| Abstract | Few genes have been implicated in sporadic premature ovarian failure. This study implicates
STAG3,
which encodes a cohesin, a protein that mediates chromosome pairing during meiosis.
Premature ovarian failure, the end point of primary ovarian insufficiency, affects approximately 1% of women worldwide. Patients with premature ovarian failure present with at least a 6-month history of amenorrhea and elevated plasma levels of follicle-stimulating hormone (>40 mIU per milliliter). The disorder can result from premature depletion of the follicle pool, follicular atresia, follicle growth arrest, or ovarian dysgenesis. Although a majority of cases are idiopathic, premature ovarian failure can be caused by infectious agents, chemotherapy, pelvic surgery, autoimmune disease, environmental factors, or genetic conditions.
1
The disorder is observed in syndromic diseases — for example, Turner's syndrome and BPES . . . |
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| AbstractList | Premature ovarian failure is a major cause of female infertility. The genetic causes of this disorder remain unknown in most patients. Using whole-exome sequence analysis of a large consanguineous family with inherited premature ovarian failure, we identified a homozygous 1-bp deletion inducing a frameshift mutation in STAG3 on chromosome 7. STAG3 encodes a meiosis-specific subunit of the cohesin ring, which ensures correct sister chromatid cohesion. Female mice devoid of Stag3 are sterile, and their fetal oocytes are arrested at early prophase I, leading to oocyte depletion at 1 week of age.Premature ovarian failure is a major cause of female infertility. The genetic causes of this disorder remain unknown in most patients. Using whole-exome sequence analysis of a large consanguineous family with inherited premature ovarian failure, we identified a homozygous 1-bp deletion inducing a frameshift mutation in STAG3 on chromosome 7. STAG3 encodes a meiosis-specific subunit of the cohesin ring, which ensures correct sister chromatid cohesion. Female mice devoid of Stag3 are sterile, and their fetal oocytes are arrested at early prophase I, leading to oocyte depletion at 1 week of age. Premature ovarian failure is a major cause of female infertility. The genetic causes of this disorder remain unknown in most patients. Using whole-exome sequence analysis of a large consanguineous family with inherited premature ovarian failure, we identified a homozygous 1-bp deletion inducing a frameshift mutation in STAG3 on chromosome 7. STAG3 encodes a meiosis-specific subunit of the cohesin ring, which ensures correct sister chromatid cohesion. Female mice devoid of Stag3 are sterile, and their fetal oocytes are arrested at early prophase I, leading to oocyte depletion at 1 week of age. Few genes have been implicated in sporadic premature ovarian failure. This study implicates STAG3, which encodes a cohesin, a protein that mediates chromosome pairing during meiosis. Premature ovarian failure, the end point of primary ovarian insufficiency, affects approximately 1% of women worldwide. Patients with premature ovarian failure present with at least a 6-month history of amenorrhea and elevated plasma levels of follicle-stimulating hormone (>40 mIU per milliliter). The disorder can result from premature depletion of the follicle pool, follicular atresia, follicle growth arrest, or ovarian dysgenesis. Although a majority of cases are idiopathic, premature ovarian failure can be caused by infectious agents, chemotherapy, pelvic surgery, autoimmune disease, environmental factors, or genetic conditions. 1 The disorder is observed in syndromic diseases — for example, Turner's syndrome and BPES . . . |
| Author | Oka, Kazuhiro Vaiman, Daniel Overbeek, Paul A Fellous, Marc Caburet, Sandrine Pendás, Alberto M Arboleda, Valerie A Vilain, Eric Harrison, Wilbur Barbero, Jose Luis Veitia, Reiner A Llano, Elena Ben-Neriah, Ziva García-Tuñón, Ignacio |
| Author_xml | – sequence: 1 givenname: Sandrine surname: Caburet fullname: Caburet, Sandrine organization: From Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) — both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) — both in Salamanca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.) – sequence: 2 givenname: Valerie A surname: Arboleda fullname: Arboleda, Valerie A organization: From Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) — both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) — both in Salamanca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.) – sequence: 3 givenname: Elena surname: Llano fullname: Llano, Elena organization: From Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) — both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) — both in Salamanca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.) – sequence: 4 givenname: Paul A surname: Overbeek fullname: Overbeek, Paul A organization: From Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) — both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) — both in Salamanca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.) – sequence: 5 givenname: Jose Luis surname: Barbero fullname: Barbero, Jose Luis organization: From Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) — both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) — both in Salamanca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.) – sequence: 6 givenname: Kazuhiro surname: Oka fullname: Oka, Kazuhiro organization: From Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) — both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) — both in Salamanca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.) – sequence: 7 givenname: Wilbur surname: Harrison fullname: Harrison, Wilbur organization: From Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) — both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) — both in Salamanca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.) – sequence: 8 givenname: Daniel surname: Vaiman fullname: Vaiman, Daniel organization: From Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) — both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) — both in Salamanca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.) – sequence: 9 givenname: Ziva surname: Ben-Neriah fullname: Ben-Neriah, Ziva organization: From Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) — both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) — both in Salamanca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.) – sequence: 10 givenname: Ignacio surname: García-Tuñón fullname: García-Tuñón, Ignacio organization: From Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) — both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) — both in Salamanca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.) – sequence: 11 givenname: Marc surname: Fellous fullname: Fellous, Marc organization: From Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) — both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) — both in Salamanca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.) – sequence: 12 givenname: Alberto M surname: Pendás fullname: Pendás, Alberto M organization: From Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) — both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) — both in Salamanca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.) – sequence: 13 givenname: Reiner A surname: Veitia fullname: Veitia, Reiner A organization: From Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) — both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) — both in Salamanca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.) – sequence: 14 givenname: Eric surname: Vilain fullname: Vilain, Eric organization: From Institut Jacques Monod, Université Paris Diderot (S.C., M.F., R.A.V.), and Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8104, INSERM (D.V., M.F.) — both in Paris; the Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (V.A.A., E.V.); Departamento de Fisiología y Farmacología, Universidad de Salamanca (E.L.), and Instituto de Biología Molecular y Celular del Cáncer (E.L., I.G.-T., A.M.P.) — both in Salamanca, Spain; the Department of Molecular Cellular Biology, Baylor College of Medicine, Houston (P.A.O., K.O., W.H.); Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid (J.L.B.); and the Department of Genetics, Hadassah University Hospital, Jerusalem (Z.B.-N.) |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=28188489$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/24597867$$D View this record in MEDLINE/PubMed https://hal.science/hal-00992209$$DView record in HAL |
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| Snippet | Few genes have been implicated in sporadic premature ovarian failure. This study implicates
STAG3,
which encodes a cohesin, a protein that mediates chromosome... Premature ovarian failure is a major cause of female infertility. The genetic causes of this disorder remain unknown in most patients. Using whole-exome... |
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| SubjectTerms | Animals Biochemistry, Molecular Biology Biological and medical sciences Cell Cycle Proteins Cell Cycle Proteins - genetics Chromosomal Proteins, Non-Histone Chromosomal Proteins, Non-Histone - genetics Chromosome 7 Chromosome deletion Cohesin Cohesins Disease Models, Animal Diseases of mother, fetus and pregnancy Female Fetuses Frameshift mutation Gene deletion General aspects Genetics Gynecology and obstetrics Gynecology. Andrology. Obstetrics Human health and pathology Humans Infertility Infertility, Female Infertility, Female - genetics Life Sciences Medical sciences Meiosis Mice Mutation Nuclear Proteins Nuclear Proteins - genetics Oocytes Pedigree Pregnancy. Fetus. Placenta Primary Ovarian Insufficiency Primary Ovarian Insufficiency - genetics Prophase Reproductive status Reproductive system Womens health |
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| Title | Mutant Cohesin in Premature Ovarian Failure |
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