Nature Communications (Jan 2022)
A de novo paradigm for male infertility
- M. S. Oud,
- R. M. Smits,
- H. E. Smith,
- F. K. Mastrorosa,
- G. S. Holt,
- B. J. Houston,
- P. F. de Vries,
- B. K. S. Alobaidi,
- L. E. Batty,
- H. Ismail,
- J. Greenwood,
- H. Sheth,
- A. Mikulasova,
- G. D. N. Astuti,
- C. Gilissen,
- K. McEleny,
- H. Turner,
- J. Coxhead,
- S. Cockell,
- D. D. M. Braat,
- K. Fleischer,
- K. W. M. D’Hauwers,
- E. Schaafsma,
- Genetics of Male Infertility Initiative (GEMINI) consortium,
- L. Nagirnaja,
- D. F. Conrad,
- C. Friedrich,
- S. Kliesch,
- K. I. Aston,
- A. Riera-Escamilla,
- C. Krausz,
- C. Gonzaga-Jauregui,
- M. Santibanez-Koref,
- D. J. Elliott,
- L. E. L. M. Vissers,
- F. Tüttelmann,
- M. K. O’Bryan,
- L. Ramos,
- M. J. Xavier,
- G. W. van der Heijden,
- J. A. Veltman
Affiliations
- M. S. Oud
- Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc
- R. M. Smits
- Department of Obstetrics and Gynaecology, Radboudumc
- H. E. Smith
- Biosciences Institute, Faculty of Medical Sciences, Newcastle University
- F. K. Mastrorosa
- Biosciences Institute, Faculty of Medical Sciences, Newcastle University
- G. S. Holt
- Biosciences Institute, Faculty of Medical Sciences, Newcastle University
- B. J. Houston
- School of BioSciences, Faculty of Science, The University of Melbourne
- P. F. de Vries
- Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc
- B. K. S. Alobaidi
- Biosciences Institute, Faculty of Medical Sciences, Newcastle University
- L. E. Batty
- Biosciences Institute, Faculty of Medical Sciences, Newcastle University
- H. Ismail
- Biosciences Institute, Faculty of Medical Sciences, Newcastle University
- J. Greenwood
- Department of Genetic Medicine, The Newcastle upon Tyne Hospitals NHS Foundation Trust
- H. Sheth
- Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics
- A. Mikulasova
- Biosciences Institute, Faculty of Medical Sciences, Newcastle University
- G. D. N. Astuti
- Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboudumc
- C. Gilissen
- Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboudumc
- K. McEleny
- Newcastle Fertility Centre, The Newcastle upon Tyne Hospitals NHS Foundation Trust
- H. Turner
- Department of Cellular Pathology, The Newcastle upon Tyne Hospitals NHS Foundation Trust
- J. Coxhead
- Genomics Core Facility, Faculty of Medical Sciences, Newcastle University
- S. Cockell
- Bioinformatics Support Unit, Faculty of Medical Sciences New, castle University
- D. D. M. Braat
- Department of Obstetrics and Gynaecology, Radboudumc
- K. Fleischer
- Department of Obstetrics and Gynaecology, Radboudumc
- K. W. M. D’Hauwers
- Department of Urology, Radboudumc
- E. Schaafsma
- Department of Pathology, Radboudumc
- Genetics of Male Infertility Initiative (GEMINI) consortium
- L. Nagirnaja
- Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University
- D. F. Conrad
- Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University
- C. Friedrich
- Institute of Reproductive Genetics, University of Münster
- S. Kliesch
- Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster
- K. I. Aston
- Department of Surgery, Division of Urology, University of Utah School of Medicine
- A. Riera-Escamilla
- Andrology Department, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau)
- C. Krausz
- Department of Biomedical, Experimental and Clinical Sciences “Mario Serio”, University of Florence
- C. Gonzaga-Jauregui
- Regeneron Genetics Center
- M. Santibanez-Koref
- Biosciences Institute, Faculty of Medical Sciences, Newcastle University
- D. J. Elliott
- Biosciences Institute, Faculty of Medical Sciences, Newcastle University
- L. E. L. M. Vissers
- Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc
- F. Tüttelmann
- Institute of Reproductive Genetics, University of Münster
- M. K. O’Bryan
- School of BioSciences, Faculty of Science, The University of Melbourne
- L. Ramos
- Department of Obstetrics and Gynaecology, Radboudumc
- M. J. Xavier
- Biosciences Institute, Faculty of Medical Sciences, Newcastle University
- G. W. van der Heijden
- Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc
- J. A. Veltman
- Biosciences Institute, Faculty of Medical Sciences, Newcastle University
- DOI
- https://doi.org/10.1038/s41467-021-27132-8
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 10
Abstract
Germline de novo mutations can impact individual fitness, but their role in human male infertility is understudied. Trio-based exome sequencing identifies many new candidate genes affecting male fertility, including an essential regulator of male germ cell pre-mRNA splicing.
