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A de novo paradigm for male infertility

Author

Listed:
  • M. S. Oud

    (Radboudumc)

  • R. M. Smits

    (Radboudumc)

  • H. E. Smith

    (Newcastle University)

  • F. K. Mastrorosa

    (Newcastle University)

  • G. S. Holt

    (Newcastle University)

  • B. J. Houston

    (The University of Melbourne)

  • P. F. Vries

    (Radboudumc)

  • B. K. S. Alobaidi

    (Newcastle University)

  • L. E. Batty

    (Newcastle University)

  • H. Ismail

    (Newcastle University)

  • J. Greenwood

    (The Newcastle upon Tyne Hospitals NHS Foundation Trust)

  • H. Sheth

    (Institute of Human Genetics)

  • A. Mikulasova

    (Newcastle University)

  • G. D. N. Astuti

    (Radboudumc
    Diponegoro University)

  • C. Gilissen

    (Radboudumc)

  • K. McEleny

    (The Newcastle upon Tyne Hospitals NHS Foundation Trust)

  • H. Turner

    (The Newcastle upon Tyne Hospitals NHS Foundation Trust)

  • J. Coxhead

    (Newcastle University)

  • S. Cockell

    (castle University)

  • D. D. M. Braat

    (Radboudumc)

  • K. Fleischer

    (Radboudumc)

  • K. W. M. D’Hauwers

    (Radboudumc)

  • E. Schaafsma

    (Radboudumc)

  • L. Nagirnaja

    (Oregon Health & Science University)

  • D. F. Conrad

    (Oregon Health & Science University)

  • C. Friedrich

    (University of Münster)

  • S. Kliesch

    (University Hospital Münster)

  • K. I. Aston

    (University of Utah School of Medicine)

  • A. Riera-Escamilla

    (Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau))

  • C. Krausz

    (University of Florence)

  • C. Gonzaga-Jauregui

    (Regeneron Genetics Center)

  • M. Santibanez-Koref

    (Newcastle University)

  • D. J. Elliott

    (Newcastle University)

  • L. E. L. M. Vissers

    (Radboudumc)

  • F. Tüttelmann

    (University of Münster)

  • M. K. O’Bryan

    (The University of Melbourne)

  • L. Ramos

    (Radboudumc)

  • M. J. Xavier

    (Newcastle University)

  • G. W. Heijden

    (Radboudumc
    Radboudumc)

  • J. A. Veltman

    (Newcastle University)

Abstract

De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of the genetic causes of this understudied disorder. To test this hypothesis, we utilize trio-based exome sequencing in a cohort of 185 infertile males and their unaffected parents. Following a systematic analysis, 29 of 145 rare (MAF

Suggested Citation

  • M. S. Oud & R. M. Smits & H. E. Smith & F. K. Mastrorosa & G. S. Holt & B. J. Houston & P. F. Vries & B. K. S. Alobaidi & L. E. Batty & H. Ismail & J. Greenwood & H. Sheth & A. Mikulasova & G. D. N. A, 2022. "A de novo paradigm for male infertility," Nature Communications, Nature, vol. 13(1), pages 1-10, December.
    • Handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-021-27132-8
    DOI: 10.1038/s41467-021-27132-8
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    Cited by:

    1. Birgit Stallmeyer & Clara Bühlmann & Rytis Stakaitis & Ann-Kristin Dicke & Farah Ghieh & Luisa Meier & Ansgar Zoch & David MacKenzie MacLeod & Johanna Steingröver & Özlem Okutman & Daniela Fietz & Adr, 2024. "Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility," Nature Communications, Nature, vol. 15(1), pages 1-18, December.
    2. Liina Nagirnaja & Alexandra M. Lopes & Wu-Lin Charng & Brian Miller & Rytis Stakaitis & Ieva Golubickaite & Alexandra Stendahl & Tianpengcheng Luan & Corinna Friedrich & Eisa Mahyari & Eloise Fadial &, 2022. "Diverse monogenic subforms of human spermatogenic failure," Nature Communications, Nature, vol. 13(1), pages 1-18, December.

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