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Research Article

Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

  • Alexandra M. Lopes equal contributor mail,

    equal contributor Contributed equally to this work with: Alexandra M. Lopes, Kenneth I. Aston

    alopes@ipatimup.pt (AML); dconrad@genetics.wustl.edu (DFC)

    Affiliation: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal

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  • Kenneth I. Aston equal contributor,

    equal contributor Contributed equally to this work with: Alexandra M. Lopes, Kenneth I. Aston

    Affiliation: Andrology and IVF Laboratories, Department of Surgery, University of Utah School of Medicine, Salt Lake City, Utah, United States of America

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  • Emma Thompson,

    Affiliation: Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America

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  • Filipa Carvalho,

    Affiliation: Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal

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  • João Gonçalves,

    Affiliation: Department of Human Genetics, National Institute of Health Dr. Ricardo Jorge, Lisbon, Portugal

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  • Ni Huang,

    Affiliation: Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, United States of America

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  • Rune Matthiesen,

    Affiliation: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal

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  • Michiel J. Noordam,

    Affiliation: Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, United States of America

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  • Inés Quintela,

    Affiliation: Genomics Medicine Group, National Genotyping Center, University of Santiago de Compostela, Santiago de Compostela, Spain

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  • Avinash Ramu,

    Affiliation: Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, United States of America

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  • Catarina Seabra,

    Affiliation: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal

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  • Amy B. Wilfert,

    Affiliation: Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, United States of America

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  • Juncheng Dai,

    Affiliation: Department of Epidemiology and Biostatistics and Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, China

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  • Jonathan M. Downie,

    Affiliation: Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, United States of America

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  • Susana Fernandes,

    Affiliation: Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal

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  • Xuejiang Guo,

    Affiliations: State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China, Department of Histology and Embryology, Nanjing Medical University, Nanjing, China

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  • Jiahao Sha,

    Affiliations: State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China, Department of Histology and Embryology, Nanjing Medical University, Nanjing, China

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  • António Amorim,

    Affiliations: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal, Faculty of Sciences, University of Porto, Porto, Portugal

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  • Alberto Barros,

    Affiliations: Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal, Centre for Reproductive Genetics Alberto Barros, Porto, Portugal

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  • Angel Carracedo,

    Affiliations: Genomics Medicine Group, National Genotyping Center, University of Santiago de Compostela, Santiago de Compostela, Spain, Galician Foundation of Genomic Medicine and University of Santiago de Compostela, CIBERER, Santiago de Compostela, Spain

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  • Zhibin Hu,

    Affiliations: Department of Epidemiology and Biostatistics and Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, China, State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China

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  • Matthew E. Hurles,

    Affiliation: Genome Mutation and Genetic Disease Group, Wellcome Trust Sanger Institute, Cambridge, United Kingdom

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  • Sergey Moskovtsev,

    Affiliations: CReATe Fertility Center, University of Toronto, Toronto, Canada, Department of Obstetrics and Gynaecology, University of Toronto, Toronto, Canada

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  • Carole Ober,

    Affiliations: Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America, Department of Obstetrics and Gynecology, University of Chicago, Chicago, Illinois, United States of America

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  • Darius A. Paduch,

    Affiliation: Department of Urology, Weill Cornell Medical College, New York-Presbyterian Hospital, New York, New York, United States of America

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  • Joshua D. Schiffman,

    Affiliations: Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, United States of America, Center for Children's Cancer Research (C3R), Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, United States of America, Division of Pediatric Hematology/Oncology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, United States of America

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  • Peter N. Schlegel,

    Affiliation: Department of Urology, Weill Cornell Medical College, New York-Presbyterian Hospital, New York, New York, United States of America

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  • Mário Sousa,

    Affiliation: Laboratory of Cell Biology, UMIB, ICBAS, University of Porto, Porto, Portugal

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  • Douglas T. Carrell,

    Affiliations: Andrology and IVF Laboratories, Department of Surgery, University of Utah School of Medicine, Salt Lake City, Utah, United States of America, Department of Physiology, University of Utah School of Medicine, Salt Lake City, Utah, United States of America, Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, Utah, United States of America

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  • Donald F. Conrad mail

    alopes@ipatimup.pt (AML); dconrad@genetics.wustl.edu (DFC)

    Affiliations: Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, United States of America, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, United States of America

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  • Published: March 21, 2013
  • DOI: 10.1371/journal.pgen.1003349

Reader Comments (1)

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Parabens

Posted by pauloramalho on 21 Mar 2013 at 21:14 GMT

Muito bravo isto!

No competing interests declared.