DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia

Ann-Kristin Dicke; Adrian Pilatz; Margot J. Wyrwoll; Margus Punab; Christian Ruckert; Liina Nagirnaja; Kenneth I. Aston; Donald F. Conrad; Sara Di Persio; Nina Neuhaus; Daniela Fietz; Maris Laan; Birgit Stallmeyer; Frank Tüttelmann

doi:10.1038/s42003-023-04714-4

Communications Biology (Mar 2023)

DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia

Ann-Kristin Dicke,
Adrian Pilatz,
Margot J. Wyrwoll,
Margus Punab,
Christian Ruckert,
Liina Nagirnaja,
Kenneth I. Aston,
Donald F. Conrad,
Sara Di Persio,
Nina Neuhaus,
Daniela Fietz,
Maris Laan,
Birgit Stallmeyer,
Frank Tüttelmann

Affiliations

Ann-Kristin Dicke: Institute of Reproductive Genetics, University of Münster
Adrian Pilatz: Clinic for Urology, Paediatric Urology and Andrology, Justus Liebig University Gießen
Margot J. Wyrwoll: Institute of Reproductive Genetics, University of Münster
Margus Punab: Andrology Centre, Tartu University Hospital
Christian Ruckert: Institute of Human Genetics, University of Münster
Liina Nagirnaja: Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University
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
Sara Di Persio: Centre of Reproductive Medicine and Andrology, University Hospital Münster
Nina Neuhaus: Centre of Reproductive Medicine and Andrology, University Hospital Münster
Daniela Fietz: Institute of Veterinary Anatomy, Histology and Embryology, Justus Liebig University Gießen
Maris Laan: Institute of Biomedicine and Translational Medicine, University of Tartu
Birgit Stallmeyer: Institute of Reproductive Genetics, University of Münster
Frank Tüttelmann: Institute of Reproductive Genetics, University of Münster

DOI: https://doi.org/10.1038/s42003-023-04714-4
Journal volume & issue: Vol. 6, no. 1
pp. 1 – 7

Abstract

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Analysing genetic data from 1,655 men with non-obstructive azoospermia (NOA) reveals four independent loss-of-function variants in DDX3Y, suggesting that it is a key gene in the AZFa region and should be considered in diagnostic workflows for NOA.

Published in Communications Biology

ISSN: 2399-3642 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science: Biology (General)
Website: https://www.nature.com/commsbio/

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