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Identification of biallelic variations of CEP70 in patients with male infertility
INTRODUCTION: Male infertility is a severe health issue caused by complex and multifactorial pathological conditions. Genetic factors are a major cause of male infertility. CEP70, a centrosomal protein, has been reported to play an important role in male reproduction in mice. However, the role of CE...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10035576/ https://www.ncbi.nlm.nih.gov/pubmed/36967801 http://dx.doi.org/10.3389/fendo.2023.1133222 |
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author | Ruan, Tiechao Yang, Yihong Jiang, Chuan Shen, Gan Li, Dingming Shen, Ying |
author_facet | Ruan, Tiechao Yang, Yihong Jiang, Chuan Shen, Gan Li, Dingming Shen, Ying |
author_sort | Ruan, Tiechao |
collection | PubMed |
description | INTRODUCTION: Male infertility is a severe health issue caused by complex and multifactorial pathological conditions. Genetic factors are a major cause of male infertility. CEP70, a centrosomal protein, has been reported to play an important role in male reproduction in mice. However, the role of CEP70 in human male infertility is limited. METHODS: Whole exome sequencing and Sanger sequencing were used to identify the genetic cause of the infertile patients. Papanicolaou staining, scanning electron microscopy and transmission electron microscopy were further conducted to explore morphological and ultrastructural defects in spermatozoa from the patient. Immunofluorescence staining was used to detect the pathogenicity of the identified variants and the particular expression of CEP70 in testis. RESULTS: In this study, we identified biallelic mutations of CEP70 in two unrelated infertile male individuals with oligoasthenoteratozoospermia that followed a recessive inheritance pattern. Papanicolaou staining, scanning electron microscopy and transmission electron microscopy showed that morphological and ultrastructural defects in the acrosome and flagellum of sperm from the patient in a pattern strikingly similar to that in Cep70(−/−) male mice. The results of immunofluorescence staining suggested that CEP70 was normally expressed in the acrosome and flagellum of control sperm but was hardly detected in the sperm of patient carrying CEP70 variation. We also explored the particular expression pattern of CEP70 during spermatogenesis in humans and mice. CONCLUSIONS: Biallelic mutations of CEP70 might be a novel genetic cause of human male infertility, which could potentially serve as a basis for genetic counseling and diagnosis of male infertility. |
format | Online Article Text |
id | pubmed-10035576 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-100355762023-03-24 Identification of biallelic variations of CEP70 in patients with male infertility Ruan, Tiechao Yang, Yihong Jiang, Chuan Shen, Gan Li, Dingming Shen, Ying Front Endocrinol (Lausanne) Endocrinology INTRODUCTION: Male infertility is a severe health issue caused by complex and multifactorial pathological conditions. Genetic factors are a major cause of male infertility. CEP70, a centrosomal protein, has been reported to play an important role in male reproduction in mice. However, the role of CEP70 in human male infertility is limited. METHODS: Whole exome sequencing and Sanger sequencing were used to identify the genetic cause of the infertile patients. Papanicolaou staining, scanning electron microscopy and transmission electron microscopy were further conducted to explore morphological and ultrastructural defects in spermatozoa from the patient. Immunofluorescence staining was used to detect the pathogenicity of the identified variants and the particular expression of CEP70 in testis. RESULTS: In this study, we identified biallelic mutations of CEP70 in two unrelated infertile male individuals with oligoasthenoteratozoospermia that followed a recessive inheritance pattern. Papanicolaou staining, scanning electron microscopy and transmission electron microscopy showed that morphological and ultrastructural defects in the acrosome and flagellum of sperm from the patient in a pattern strikingly similar to that in Cep70(−/−) male mice. The results of immunofluorescence staining suggested that CEP70 was normally expressed in the acrosome and flagellum of control sperm but was hardly detected in the sperm of patient carrying CEP70 variation. We also explored the particular expression pattern of CEP70 during spermatogenesis in humans and mice. CONCLUSIONS: Biallelic mutations of CEP70 might be a novel genetic cause of human male infertility, which could potentially serve as a basis for genetic counseling and diagnosis of male infertility. Frontiers Media S.A. 2023-03-09 /pmc/articles/PMC10035576/ /pubmed/36967801 http://dx.doi.org/10.3389/fendo.2023.1133222 Text en Copyright © 2023 Ruan, Yang, Jiang, Shen, Li and Shen https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Endocrinology Ruan, Tiechao Yang, Yihong Jiang, Chuan Shen, Gan Li, Dingming Shen, Ying Identification of biallelic variations of CEP70 in patients with male infertility |
title | Identification of biallelic variations of CEP70 in patients with male infertility |
title_full | Identification of biallelic variations of CEP70 in patients with male infertility |
title_fullStr | Identification of biallelic variations of CEP70 in patients with male infertility |
title_full_unstemmed | Identification of biallelic variations of CEP70 in patients with male infertility |
title_short | Identification of biallelic variations of CEP70 in patients with male infertility |
title_sort | identification of biallelic variations of cep70 in patients with male infertility |
topic | Endocrinology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10035576/ https://www.ncbi.nlm.nih.gov/pubmed/36967801 http://dx.doi.org/10.3389/fendo.2023.1133222 |
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