Loss‐of‐function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella
Asthenozoospermia is a common cause of male infertility associated with the reduced motility and/or abnormal morphology of spermatozoa, although its etiology remains incompletely understood. Multiple morphological abnormalities of the sperm flagella (MMAF) is one of the main causes of asthenozoosper...
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| Veröffentlicht in: | Clinical genetics 2020-10, Vol.98 (4), p.396-401 |
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| creator | Yang, Yihong Jiang, Chuan Zhang, Xueguang Liu, Xue Li, Jinghong Qiao, Xiaoyong Liu, Hongqian Shen, Ying |
| description | Asthenozoospermia is a common cause of male infertility associated with the reduced motility and/or abnormal morphology of spermatozoa, although its etiology remains incompletely understood. Multiple morphological abnormalities of the sperm flagella (MMAF) is one of the main causes of asthenozoospermia. However, the MMAF‐associated genes identified to date cannot explain all the human MMAF cases. Herein, a loss‐of‐function mutation of DNAH8 was identified in an asthenozoospermia patient with MMAF. Moreover, the negative effect of this mutation on DNAH8 expression was confirmed by immunofluorescence staining and western blotting. Remarkably, it is the first time that DNAH8 is suggested to be associated with human MMAF. Our findings provide strong evidence that a loss‐of‐function mutation in DNAH8 can cause male infertility with MMAF and that DNAH8 is essential for sperm flagellar formation.
Loss‐of‐function mutation in DNAH8 causes MMAF. |
| doi_str_mv | 10.1111/cge.13815 |
| format | Article |
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Loss‐of‐function mutation in DNAH8 causes MMAF.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/cge.13815</identifier><identifier>PMID: 32681648</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>asthenozoospermia ; DNAH8 ; Etiology ; Flagella ; gene mutations ; Immunofluorescence ; Infertility ; male infertility ; MMAF ; Morphology ; Mutation ; Sperm ; WES ; Western blotting</subject><ispartof>Clinical genetics, 2020-10, Vol.98 (4), p.396-401</ispartof><rights>2020 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd</rights><rights>2020 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd.</rights><rights>2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3535-bd68393b5fb44f9fe91ba706c066ab99be0f58d02866516e390645430ec2d7753</citedby><cites>FETCH-LOGICAL-c3535-bd68393b5fb44f9fe91ba706c066ab99be0f58d02866516e390645430ec2d7753</cites><orcidid>0000-0002-1484-0807</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fcge.13815$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fcge.13815$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32681648$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yang, Yihong</creatorcontrib><creatorcontrib>Jiang, Chuan</creatorcontrib><creatorcontrib>Zhang, Xueguang</creatorcontrib><creatorcontrib>Liu, Xue</creatorcontrib><creatorcontrib>Li, Jinghong</creatorcontrib><creatorcontrib>Qiao, Xiaoyong</creatorcontrib><creatorcontrib>Liu, Hongqian</creatorcontrib><creatorcontrib>Shen, Ying</creatorcontrib><title>Loss‐of‐function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>Asthenozoospermia is a common cause of male infertility associated with the reduced motility and/or abnormal morphology of spermatozoa, although its etiology remains incompletely understood. Multiple morphological abnormalities of the sperm flagella (MMAF) is one of the main causes of asthenozoospermia. However, the MMAF‐associated genes identified to date cannot explain all the human MMAF cases. Herein, a loss‐of‐function mutation of DNAH8 was identified in an asthenozoospermia patient with MMAF. Moreover, the negative effect of this mutation on DNAH8 expression was confirmed by immunofluorescence staining and western blotting. Remarkably, it is the first time that DNAH8 is suggested to be associated with human MMAF. Our findings provide strong evidence that a loss‐of‐function mutation in DNAH8 can cause male infertility with MMAF and that DNAH8 is essential for sperm flagellar formation.
Loss‐of‐function mutation in DNAH8 causes MMAF.</description><subject>asthenozoospermia</subject><subject>DNAH8</subject><subject>Etiology</subject><subject>Flagella</subject><subject>gene mutations</subject><subject>Immunofluorescence</subject><subject>Infertility</subject><subject>male infertility</subject><subject>MMAF</subject><subject>Morphology</subject><subject>Mutation</subject><subject>Sperm</subject><subject>WES</subject><subject>Western blotting</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNp1kc1u1DAURi1ERYfCghdAkdjAIq0d_8ReVkNpkUbtpqwjx7meceXEwXZUddcnQDwjT4I7U1gg4YXvtXV8dOUPoXcEn5KyzswWTgmVhL9AK0KVqjHG7CValaJqRQQ9Rq9TuitH2nL1Ch3TRkgimFyhH5uQ0q_Hn8GWzS6TyS5M1bhkvW_cVH2-Pr-SpRkWA6nSKe9gChmiziHNEEeny2UKxukMQ3Xv8q4899nNHqoxxHkXfNg6o32l-ynEUXuXXTEFWxVVtXdU1usteK_foCOrfYK3z_UEfftycbu-qjc3l1_X55vaUE553Q9CUkV7bnvGrLKgSK9bLAwWQvdK9YAtlwNupBCcCKAKC8YZxWCaoW05PUEfD945hu8LpNyNLpmnCSYIS-oa1jCluFJNQT_8g96FJU5lukIxJjlmsi3UpwNlYvnQCLaboxt1fOgI7p5C6kpI3T6kwr5_Ni79CMNf8k8qBTg7APfOw8P_Td368uKg_A2SFZ84</recordid><startdate>202010</startdate><enddate>202010</enddate><creator>Yang, Yihong</creator><creator>Jiang, Chuan</creator><creator>Zhang, Xueguang</creator><creator>Liu, Xue</creator><creator>Li, Jinghong</creator><creator>Qiao, Xiaoyong</creator><creator>Liu, Hongqian</creator><creator>Shen, Ying</creator><general>Blackwell Publishing Ltd</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-1484-0807</orcidid></search><sort><creationdate>202010</creationdate><title>Loss‐of‐function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella</title><author>Yang, Yihong ; Jiang, Chuan ; Zhang, Xueguang ; Liu, Xue ; Li, Jinghong ; Qiao, Xiaoyong ; Liu, Hongqian ; Shen, Ying</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3535-bd68393b5fb44f9fe91ba706c066ab99be0f58d02866516e390645430ec2d7753</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>asthenozoospermia</topic><topic>DNAH8</topic><topic>Etiology</topic><topic>Flagella</topic><topic>gene mutations</topic><topic>Immunofluorescence</topic><topic>Infertility</topic><topic>male infertility</topic><topic>MMAF</topic><topic>Morphology</topic><topic>Mutation</topic><topic>Sperm</topic><topic>WES</topic><topic>Western blotting</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yang, Yihong</creatorcontrib><creatorcontrib>Jiang, Chuan</creatorcontrib><creatorcontrib>Zhang, Xueguang</creatorcontrib><creatorcontrib>Liu, Xue</creatorcontrib><creatorcontrib>Li, Jinghong</creatorcontrib><creatorcontrib>Qiao, Xiaoyong</creatorcontrib><creatorcontrib>Liu, Hongqian</creatorcontrib><creatorcontrib>Shen, Ying</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yang, Yihong</au><au>Jiang, Chuan</au><au>Zhang, Xueguang</au><au>Liu, Xue</au><au>Li, Jinghong</au><au>Qiao, Xiaoyong</au><au>Liu, Hongqian</au><au>Shen, Ying</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Loss‐of‐function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2020-10</date><risdate>2020</risdate><volume>98</volume><issue>4</issue><spage>396</spage><epage>401</epage><pages>396-401</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><abstract>Asthenozoospermia is a common cause of male infertility associated with the reduced motility and/or abnormal morphology of spermatozoa, although its etiology remains incompletely understood. Multiple morphological abnormalities of the sperm flagella (MMAF) is one of the main causes of asthenozoospermia. However, the MMAF‐associated genes identified to date cannot explain all the human MMAF cases. Herein, a loss‐of‐function mutation of DNAH8 was identified in an asthenozoospermia patient with MMAF. Moreover, the negative effect of this mutation on DNAH8 expression was confirmed by immunofluorescence staining and western blotting. Remarkably, it is the first time that DNAH8 is suggested to be associated with human MMAF. Our findings provide strong evidence that a loss‐of‐function mutation in DNAH8 can cause male infertility with MMAF and that DNAH8 is essential for sperm flagellar formation.
Loss‐of‐function mutation in DNAH8 causes MMAF.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>32681648</pmid><doi>10.1111/cge.13815</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0002-1484-0807</orcidid></addata></record> |
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| source | Wiley Online Library Journals Frontfile Complete |
| subjects | asthenozoospermia DNAH8 Etiology Flagella gene mutations Immunofluorescence Infertility male infertility MMAF Morphology Mutation Sperm WES Western blotting |
| title | Loss‐of‐function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella |
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