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DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia
Non-obstructive azoospermia, the absence of sperm in the ejaculate due to disturbed spermatogenesis, represents the most severe form of male infertility. De novo microdeletions of the Y-chromosomal AZFa region are one of few well-established genetic causes for NOA and are routinely analysed in the d...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10063662/ https://www.ncbi.nlm.nih.gov/pubmed/36997603 http://dx.doi.org/10.1038/s42003-023-04714-4 |
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author | Dicke, Ann-Kristin Pilatz, Adrian Wyrwoll, Margot J. Punab, Margus Ruckert, Christian Nagirnaja, Liina Aston, Kenneth I. Conrad, Donald F. Di Persio, Sara Neuhaus, Nina Fietz, Daniela Laan, Maris Stallmeyer, Birgit Tüttelmann, Frank |
author_facet | Dicke, Ann-Kristin Pilatz, Adrian Wyrwoll, Margot J. Punab, Margus Ruckert, Christian Nagirnaja, Liina Aston, Kenneth I. Conrad, Donald F. Di Persio, Sara Neuhaus, Nina Fietz, Daniela Laan, Maris Stallmeyer, Birgit Tüttelmann, Frank |
author_sort | Dicke, Ann-Kristin |
collection | PubMed |
description | Non-obstructive azoospermia, the absence of sperm in the ejaculate due to disturbed spermatogenesis, represents the most severe form of male infertility. De novo microdeletions of the Y-chromosomal AZFa region are one of few well-established genetic causes for NOA and are routinely analysed in the diagnostic workup of affected men. So far, it is unclear which of the three genes located in the AZFa chromosomal region is indispensible for germ cell maturation. Here we present four different likely pathogenic loss-of-function variants in the AZFa gene DDX3Y identified by analysing exome sequencing data of more than 1,600 infertile men. Three of the patients underwent testicular sperm extraction and revealed the typical AZFa testicular Sertoli cell-only phenotype. One of the variants was proven to be de novo. Consequently, DDX3Y represents the AZFa key spermatogenic factor and screening for variants in DDX3Y should be included in the diagnostic workflow. |
format | Online Article Text |
id | pubmed-10063662 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-100636622023-04-01 DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia Dicke, Ann-Kristin Pilatz, Adrian Wyrwoll, Margot J. Punab, Margus Ruckert, Christian Nagirnaja, Liina Aston, Kenneth I. Conrad, Donald F. Di Persio, Sara Neuhaus, Nina Fietz, Daniela Laan, Maris Stallmeyer, Birgit Tüttelmann, Frank Commun Biol Article Non-obstructive azoospermia, the absence of sperm in the ejaculate due to disturbed spermatogenesis, represents the most severe form of male infertility. De novo microdeletions of the Y-chromosomal AZFa region are one of few well-established genetic causes for NOA and are routinely analysed in the diagnostic workup of affected men. So far, it is unclear which of the three genes located in the AZFa chromosomal region is indispensible for germ cell maturation. Here we present four different likely pathogenic loss-of-function variants in the AZFa gene DDX3Y identified by analysing exome sequencing data of more than 1,600 infertile men. Three of the patients underwent testicular sperm extraction and revealed the typical AZFa testicular Sertoli cell-only phenotype. One of the variants was proven to be de novo. Consequently, DDX3Y represents the AZFa key spermatogenic factor and screening for variants in DDX3Y should be included in the diagnostic workflow. Nature Publishing Group UK 2023-03-31 /pmc/articles/PMC10063662/ /pubmed/36997603 http://dx.doi.org/10.1038/s42003-023-04714-4 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Article Dicke, Ann-Kristin Pilatz, Adrian Wyrwoll, Margot J. Punab, Margus Ruckert, Christian Nagirnaja, Liina Aston, Kenneth I. Conrad, Donald F. Di Persio, Sara Neuhaus, Nina Fietz, Daniela Laan, Maris Stallmeyer, Birgit Tüttelmann, Frank DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia |
title | DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia |
title_full | DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia |
title_fullStr | DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia |
title_full_unstemmed | DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia |
title_short | DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia |
title_sort | ddx3y is likely the key spermatogenic factor in the azfa region that contributes to human non-obstructive azoospermia |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10063662/ https://www.ncbi.nlm.nih.gov/pubmed/36997603 http://dx.doi.org/10.1038/s42003-023-04714-4 |
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