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

• Alexandra M. Lopes ,

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

  * E-mail: 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 ,

  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

  * E-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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