دورية أكاديمية
أعرض في EDS

Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility.

التفاصيل البيبلوغرافية
العنوان: Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility.
المؤلفون: Stallmeyer B; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany., Bühlmann C; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany., Stakaitis R; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Portland, OR, USA.; Laboratory of Molecular Neurooncology, Neuroscience Institute, Lithuanian University of Health Sciences, Kaunas, Lithuania., Dicke AK; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany., Ghieh F; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany., Meier L; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany., Zoch A; Centre for Regenerative Medicine, Institute for Stem Cell Research, School of Biological Sciences, University of Edinburgh, Edinburgh, UK.; Wellcome Centre for Cell Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh, UK., MacKenzie MacLeod D; Centre for Regenerative Medicine, Institute for Stem Cell Research, School of Biological Sciences, University of Edinburgh, Edinburgh, UK.; Wellcome Centre for Cell Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh, UK., Steingröver J; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany., Okutman Ö; Laboratoire de Génétique Médicale LGM, institut de génétique médicale d'Alsace IGMA, INSERM UMR 1112, Université de Strasbourg, Strasbourg, France.; Hôpital Universitaire de Bruxelles, Hôpital Erasme, Service de Gynécologie-Obstétrique, Clinique de Fertilité, Université libre de Bruxelles (ULB), Bruxelles, Belgium., Fietz D; Institute of Veterinary Anatomy, Histology and Embryology, Justus-Liebig-Universität Gießen, Gießen, Germany., Pilatz A; Clinic for Urology, Paediatric Urology and Andrology, Justus Liebig University Gießen, Gießen, Germany., Riera-Escamilla A; Andrology Department, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau, Barcelona, Catalonia, Spain., Xavier MJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Ruckert C; Centre of Medical Genetics, Department of Medical Genetics, University of Münster, Münster, Germany., Di Persio S; Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster, Münster, Germany., Neuhaus N; Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster, Münster, Germany., Gurbuz AS; Department of Gynecology and Obstetrics Novafertil IVF Center, Konya, Turkey., Şalvarci A; Department of Andrology Novafertil IVF Center, Konya, Turkey., Le May N; Laboratoire de Génétique Médicale LGM, institut de génétique médicale d'Alsace IGMA, INSERM UMR 1112, Université de Strasbourg, Strasbourg, France., McEleny K; Newcastle Fertility Centre, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Friedrich C; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany., van der Heijden G; Department of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, The Netherlands., Wyrwoll MJ; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany.; Centre for Regenerative Medicine, Institute for Stem Cell Research, School of Biological Sciences, University of Edinburgh, Edinburgh, UK., Kliesch S; Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster, Münster, Germany., Veltman JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Krausz C; Andrology Department, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau, Barcelona, Catalonia, Spain.; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', University of Florence, University Hospital Careggi, Florence, Italy., Viville S; Laboratoire de Génétique Médicale LGM, institut de génétique médicale d'Alsace IGMA, INSERM UMR 1112, Université de Strasbourg, Strasbourg, France.; Laboratoire de Diagnostic Génétique, UF3472-génétique de l'infertilité, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Conrad DF; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Portland, OR, USA., O'Carroll D; Centre for Regenerative Medicine, Institute for Stem Cell Research, School of Biological Sciences, University of Edinburgh, Edinburgh, UK.; Wellcome Centre for Cell Biology, School of Biological Sciences, The University of Edinburgh, Edinburgh, UK., Tüttelmann F; Centre of Medical Genetics, Institute of Reproductive Genetics, University of Münster, Münster, Germany. frank.tuettelmann@ukmuenster.de.
المصدر: Nature communications [Nat Commun] 2024 Aug 09; Vol. 15 (1), pp. 6637. Date of Electronic Publication: 2024 Aug 09.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [London] : Nature Pub. Group
مواضيع طبية MeSH: Spermatogenesis*/genetics , Infertility, Male*/genetics , Infertility, Male*/metabolism , Infertility, Male*/pathology , RNA, Small Interfering*/metabolism , RNA, Small Interfering*/genetics , DNA Transposable Elements*/genetics , Testis*/metabolism, Male ; Humans ; Animals ; Mice ; Adult ; Gene Silencing ; Mice, Knockout ; Argonaute Proteins/metabolism ; Argonaute Proteins/genetics ; Long Interspersed Nucleotide Elements/genetics ; Spermatogonia/metabolism ; DEAD-box RNA Helicases/genetics ; DEAD-box RNA Helicases/metabolism ; Piwi-Interacting RNA
مستخلص: piRNAs are crucial for transposon silencing, germ cell maturation, and fertility in male mice. Here, we report on the genetic landscape of piRNA dysfunction in humans and present 39 infertile men carrying biallelic variants in 14 different piRNA pathway genes, including PIWIL1, GTSF1, GPAT2, MAEL, TDRD1, and DDX4. In some affected men, the testicular phenotypes differ from those of the respective knockout mice and range from complete germ cell loss to the production of a few morphologically abnormal sperm. A reduced number of pachytene piRNAs was detected in the testicular tissue of variant carriers, demonstrating impaired piRNA biogenesis. Furthermore, LINE1 expression in spermatogonia links impaired piRNA biogenesis to transposon de-silencing and serves to classify variants as functionally relevant. These results establish the disrupted piRNA pathway as a major cause of human spermatogenic failure and provide insights into transposon silencing in human male germ cells.
(© 2024. The Author(s).)
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معلومات مُعتمدة: CRU326, 329621271 Deutsche Forschungsgemeinschaft (German Research Foundation); 01GR2303 Bundesministerium für Bildung und Forschung (Federal Ministry of Education and Research); 01GR2303 Bundesministerium für Bildung und Forschung (Federal Ministry of Education and Research)
المشرفين على المادة: 0 (RNA, Small Interfering)
0 (DNA Transposable Elements)
0 (Argonaute Proteins)
EC 3.6.4.13 (DEAD-box RNA Helicases)
0 (PIWIL1 protein, human)
0 (Piwi-Interacting RNA)
تواريخ الأحداث: Date Created: 20240809 Date Completed: 20240809 Latest Revision: 20240812
رمز التحديث: 20240813
مُعرف محوري في PubMed: PMC11316121
DOI: 10.1038/s41467-024-50930-9
PMID: 39122675
قاعدة البيانات: MEDLINE
الوصف
تدمد:2041-1723
DOI:10.1038/s41467-024-50930-9