Nature Communications (Dec 2022)
Diverse monogenic subforms of human spermatogenic failure
- Liina Nagirnaja,
- Alexandra M. Lopes,
- Wu-Lin Charng,
- Brian Miller,
- Rytis Stakaitis,
- Ieva Golubickaite,
- Alexandra Stendahl,
- Tianpengcheng Luan,
- Corinna Friedrich,
- Eisa Mahyari,
- Eloise Fadial,
- Laura Kasak,
- Katinka Vigh-Conrad,
- Manon S. Oud,
- Miguel J. Xavier,
- Samuel R. Cheers,
- Emma R. James,
- Jingtao Guo,
- Timothy G. Jenkins,
- Antoni Riera-Escamilla,
- Alberto Barros,
- Filipa Carvalho,
- Susana Fernandes,
- João Gonçalves,
- Christina A. Gurnett,
- Niels Jørgensen,
- Davor Jezek,
- Emily S. Jungheim,
- Sabine Kliesch,
- Robert I. McLachlan,
- Kenan R. Omurtag,
- Adrian Pilatz,
- Jay I. Sandlow,
- James Smith,
- Michael L. Eisenberg,
- James M. Hotaling,
- Keith A. Jarvi,
- Margus Punab,
- Ewa Rajpert-De Meyts,
- Douglas T. Carrell,
- Csilla Krausz,
- Maris Laan,
- Moira K. O’Bryan,
- Peter N. Schlegel,
- Frank Tüttelmann,
- Joris A. Veltman,
- Kristian Almstrup,
- Kenneth I. Aston,
- Donald F. Conrad
Affiliations
- Liina Nagirnaja
- Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University
- Alexandra M. Lopes
- i3S - Instituto de Investigação e Inovação em Saúde, University of Porto
- Wu-Lin Charng
- Department of Neurology, Washington University
- Brian Miller
- Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University
- Rytis Stakaitis
- Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet
- Ieva Golubickaite
- Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet
- Alexandra Stendahl
- Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University
- Tianpengcheng Luan
- School of BioSciences, Faculty of Science, The University of Melbourne
- Corinna Friedrich
- Institute of Reproductive Genetics, University of Münster
- Eisa Mahyari
- Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University
- Eloise Fadial
- Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University
- Laura Kasak
- Institute of Biomedicine and Translational Medicine, University of Tartu
- Katinka Vigh-Conrad
- Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University
- Manon S. Oud
- Department of Human Genetics, Radboud University Medical Centre
- Miguel J. Xavier
- Biosciences Institute, Faculty of Medical Sciences, Newcastle University
- Samuel R. Cheers
- School of BioSciences, Faculty of Science, The University of Melbourne
- Emma R. James
- Andrology and IVF Laboratory, Department of Surgery (Urology), University of Utah School of Medicine
- Jingtao Guo
- Andrology and IVF Laboratory, Department of Surgery (Urology), University of Utah School of Medicine
- Timothy G. Jenkins
- Andrology and IVF Laboratory, Department of Surgery (Urology), University of Utah School of Medicine
- Antoni Riera-Escamilla
- Andrology Department, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau)
- Alberto Barros
- i3S - Instituto de Investigação e Inovação em Saúde, University of Porto
- Filipa Carvalho
- i3S - Instituto de Investigação e Inovação em Saúde, University of Porto
- Susana Fernandes
- i3S - Instituto de Investigação e Inovação em Saúde, University of Porto
- João Gonçalves
- Departamento de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge
- Christina A. Gurnett
- Department of Neurology, Washington University
- Niels Jørgensen
- Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet
- Davor Jezek
- Department of Histology and Embryology, University of Zagreb School of Medicine
- Emily S. Jungheim
- Department of Obstetrics and Gynecology at Northwestern University, Division of Reproductive Endocrinology
- Sabine Kliesch
- Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster
- Robert I. McLachlan
- Hudson Institute of Medical Research and the Department of Obstetrics and Gynecology, Monash University
- Kenan R. Omurtag
- Department of Obstetrics and Gynecology at Washington University, Division of Reproductive Endocrinology
- Adrian Pilatz
- Clinic for Urology, Pediatric Urology and Andrology, Justus Liebig University
- Jay I. Sandlow
- Department of Urology, Medical College of Wisconsin
- James Smith
- Department of Urology, University California San Francisco
- Michael L. Eisenberg
- Department of Urology, Stanford University School of Medicine
- James M. Hotaling
- Andrology and IVF Laboratory, Department of Surgery (Urology), University of Utah School of Medicine
- Keith A. Jarvi
- Division of Urology, Department of Surgery, Mount Sinai Hospital, University of Toronto
- Margus Punab
- Andrology Center, Tartu University Hospital
- Ewa Rajpert-De Meyts
- Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet
- Douglas T. Carrell
- Andrology and IVF Laboratory, Department of Surgery (Urology), University of Utah School of Medicine
- Csilla Krausz
- Department of Experimental and Clinical Biomedical Sciences, University of Florence
- Maris Laan
- Institute of Biomedicine and Translational Medicine, University of Tartu
- Moira K. O’Bryan
- School of BioSciences, Faculty of Science, The University of Melbourne
- Peter N. Schlegel
- Department of Urology, Weill Cornell Medicine
- Frank Tüttelmann
- Institute of Reproductive Genetics, University of Münster
- Joris A. Veltman
- Biosciences Institute, Faculty of Medical Sciences, Newcastle University
- Kristian Almstrup
- Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet
- Kenneth I. Aston
- Andrology and IVF Laboratory, Department of Surgery (Urology), University of Utah School of Medicine
- Donald F. Conrad
- Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University
- DOI
- https://doi.org/10.1038/s41467-022-35661-z
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 18
Abstract
The GEMINI consortium sequenced 1,000 cases of idiopathic male infertility and identified a plausible Mendelian cause in 20% of cases. The infertility genes can be grouped by expression pattern, facilitating their interpretation and follow-up.
