Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient
BACKGROUND: Ubiquitin‐Specific Peptidase 26 (USP26), located on the X chromosome, encodes a deubiquitinating enzyme expressed mainly in testis, where it regulates protein turnover during spermatogenesis and modulates the ubiquitination levels of the Androgen Receptor (AR), and as a consequence, affe...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336752/ https://www.ncbi.nlm.nih.gov/pubmed/32410375 http://dx.doi.org/10.1002/mgg3.1258 |
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author | Arafat, Maram Zeadna, Atif Levitas, Eliahu Har Vardi, Iris Samueli, Benzion Shaco‐Levy, Ruth Dabsan, Salam Lunenfeld, Eitan Huleihel, Mahmoud Parvari, Ruti |
author_facet | Arafat, Maram Zeadna, Atif Levitas, Eliahu Har Vardi, Iris Samueli, Benzion Shaco‐Levy, Ruth Dabsan, Salam Lunenfeld, Eitan Huleihel, Mahmoud Parvari, Ruti |
author_sort | Arafat, Maram |
collection | PubMed |
description | BACKGROUND: Ubiquitin‐Specific Peptidase 26 (USP26), located on the X chromosome, encodes a deubiquitinating enzyme expressed mainly in testis, where it regulates protein turnover during spermatogenesis and modulates the ubiquitination levels of the Androgen Receptor (AR), and as a consequence, affects AR signaling. METHODS: The patient was thoroughly characterized clinically. He was genetically tested by chromosome analysis and whole exome sequencing (WES). RESULTS: The patient was diagnosed with Sertoli cell‐only syndrome pattern (SCOS). The WES analysis revealed only the variation in USP26: causing p.P469S in a highly evolutionary conserved amino acid as the possible cause for SCOS. The literature search identified 34 single variations and 14 clusters of variations in USP26 that were associated with male infertility. Only one of the 22 variations and of one cluster of three mutations tested for ubiquitination activity was found as damaging. Only one out of six variations tested for effect on AR function was found as damaging. Thus, the association of USP26 with male fertility was questioned. CONCLUSIONS: The finding in our patient and the discussion on the reviewed literature support a possible role for USP26 in male fertility. |
format | Online Article Text |
id | pubmed-7336752 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-73367522020-07-08 Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient Arafat, Maram Zeadna, Atif Levitas, Eliahu Har Vardi, Iris Samueli, Benzion Shaco‐Levy, Ruth Dabsan, Salam Lunenfeld, Eitan Huleihel, Mahmoud Parvari, Ruti Mol Genet Genomic Med Clinical Reports BACKGROUND: Ubiquitin‐Specific Peptidase 26 (USP26), located on the X chromosome, encodes a deubiquitinating enzyme expressed mainly in testis, where it regulates protein turnover during spermatogenesis and modulates the ubiquitination levels of the Androgen Receptor (AR), and as a consequence, affects AR signaling. METHODS: The patient was thoroughly characterized clinically. He was genetically tested by chromosome analysis and whole exome sequencing (WES). RESULTS: The patient was diagnosed with Sertoli cell‐only syndrome pattern (SCOS). The WES analysis revealed only the variation in USP26: causing p.P469S in a highly evolutionary conserved amino acid as the possible cause for SCOS. The literature search identified 34 single variations and 14 clusters of variations in USP26 that were associated with male infertility. Only one of the 22 variations and of one cluster of three mutations tested for ubiquitination activity was found as damaging. Only one out of six variations tested for effect on AR function was found as damaging. Thus, the association of USP26 with male fertility was questioned. CONCLUSIONS: The finding in our patient and the discussion on the reviewed literature support a possible role for USP26 in male fertility. John Wiley and Sons Inc. 2020-05-15 /pmc/articles/PMC7336752/ /pubmed/32410375 http://dx.doi.org/10.1002/mgg3.1258 Text en © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Clinical Reports Arafat, Maram Zeadna, Atif Levitas, Eliahu Har Vardi, Iris Samueli, Benzion Shaco‐Levy, Ruth Dabsan, Salam Lunenfeld, Eitan Huleihel, Mahmoud Parvari, Ruti Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient |
title | Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient |
title_full | Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient |
title_fullStr | Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient |
title_full_unstemmed | Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient |
title_short | Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient |
title_sort | novel mutation in usp26 associated with azoospermia in a sertoli cell‐only syndrome patient |
topic | Clinical Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336752/ https://www.ncbi.nlm.nih.gov/pubmed/32410375 http://dx.doi.org/10.1002/mgg3.1258 |
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