Possible association of a novel missense mutation A6375G in the mitochondrial cytochrome C oxidase I gene with asthenospermia in the Tunisian population
Cytochrome c oxidase encoded by multiple mitochondrial genes (COXI, COXII, and COXIII) and nuclear genes is an essential component of the mitochondrial respiratory chain that catalyzes the reduction of molecular oxygen by reduced cytochrome c. Subunits COXI and COXII of cytochrome c oxidase are know...
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| Veröffentlicht in: | Genetic testing and molecular biomarkers 2012-11, Vol.16 (11), p.1298-1302 |
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| creator | Baklouti-Gargouri, Siwar Ghorbel, Myriam Chamkha, Imen Mkaouar-Rebai, Emna Sellami, Afifa Chakroun, Nozha Fakhfakh, Faiza Ammar-Keskes, Leila |
| description | Cytochrome c oxidase encoded by multiple mitochondrial genes (COXI, COXII, and COXIII) and nuclear genes is an essential component of the mitochondrial respiratory chain that catalyzes the reduction of molecular oxygen by reduced cytochrome c. Subunits COXI and COXII of cytochrome c oxidase are known to play the most essential role in proton pumping and electron transfer. In this study we screened the somatic mitochondrial COXI gene of infertile men suffering from asthenospermia (n=34) in comparison to normozoospermic infertile men (n=32) and fertile men (n=100) from the Tunisian population. A novel homoplasmic missense mitochondrial mutation (m.6375A>G) was found in 5 asthenospermic patients (14%) but not in any of normozoospermic infertile men and fertile men. This mutation substituting the isoleucine at position 158 to valine in a highly conserved amino acid induces a reduction of the hydropathy index (from +1.920 to +0.239) and a decrease of the protein 3D structure number (from 50 to 26) as shown by PolyPhen bioinformatic program. |
| doi_str_mv | 10.1089/gtmb.2012.0052 |
| format | Article |
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Subunits COXI and COXII of cytochrome c oxidase are known to play the most essential role in proton pumping and electron transfer. In this study we screened the somatic mitochondrial COXI gene of infertile men suffering from asthenospermia (n=34) in comparison to normozoospermic infertile men (n=32) and fertile men (n=100) from the Tunisian population. A novel homoplasmic missense mitochondrial mutation (m.6375A>G) was found in 5 asthenospermic patients (14%) but not in any of normozoospermic infertile men and fertile men. This mutation substituting the isoleucine at position 158 to valine in a highly conserved amino acid induces a reduction of the hydropathy index (from +1.920 to +0.239) and a decrease of the protein 3D structure number (from 50 to 26) as shown by PolyPhen bioinformatic program.</description><identifier>ISSN: 1945-0265</identifier><identifier>EISSN: 1945-0257</identifier><identifier>DOI: 10.1089/gtmb.2012.0052</identifier><identifier>PMID: 23030649</identifier><language>eng</language><publisher>United States</publisher><subject>Asthenozoospermia - ethnology ; Asthenozoospermia - genetics ; Bioinformatics ; coxI gene ; Cytochrome c ; Cytochrome-c oxidase ; Electron transfer ; Electron transport ; Electron Transport Complex IV - genetics ; Genes, Mitochondrial ; Genetic screening ; Humans ; Isoleucine ; Male ; Missense mutation ; Mitochondria ; Mitochondria - metabolism ; Mutation, Missense ; Oxygen ; Protein structure ; Protons ; Tunisia ; valine</subject><ispartof>Genetic testing and molecular biomarkers, 2012-11, Vol.16 (11), p.1298-1302</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c328t-c368179133f2cb2ac45ec6baf504b8070b76012ed4339fd2e4964a2f0caf40613</citedby><cites>FETCH-LOGICAL-c328t-c368179133f2cb2ac45ec6baf504b8070b76012ed4339fd2e4964a2f0caf40613</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23030649$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Baklouti-Gargouri, Siwar</creatorcontrib><creatorcontrib>Ghorbel, Myriam</creatorcontrib><creatorcontrib>Chamkha, Imen</creatorcontrib><creatorcontrib>Mkaouar-Rebai, Emna</creatorcontrib><creatorcontrib>Sellami, Afifa</creatorcontrib><creatorcontrib>Chakroun, Nozha</creatorcontrib><creatorcontrib>Fakhfakh, Faiza</creatorcontrib><creatorcontrib>Ammar-Keskes, Leila</creatorcontrib><title>Possible association of a novel missense mutation A6375G in the mitochondrial cytochrome C oxidase I gene with asthenospermia in the Tunisian population</title><title>Genetic testing and molecular biomarkers</title><addtitle>Genet Test Mol Biomarkers</addtitle><description>Cytochrome c oxidase encoded by multiple mitochondrial genes (COXI, COXII, and COXIII) and nuclear genes is an essential component of the mitochondrial respiratory chain that catalyzes the reduction of molecular oxygen by reduced cytochrome c. Subunits COXI and COXII of cytochrome c oxidase are known to play the most essential role in proton pumping and electron transfer. In this study we screened the somatic mitochondrial COXI gene of infertile men suffering from asthenospermia (n=34) in comparison to normozoospermic infertile men (n=32) and fertile men (n=100) from the Tunisian population. A novel homoplasmic missense mitochondrial mutation (m.6375A>G) was found in 5 asthenospermic patients (14%) but not in any of normozoospermic infertile men and fertile men. This mutation substituting the isoleucine at position 158 to valine in a highly conserved amino acid induces a reduction of the hydropathy index (from +1.920 to +0.239) and a decrease of the protein 3D structure number (from 50 to 26) as shown by PolyPhen bioinformatic program.</description><subject>Asthenozoospermia - ethnology</subject><subject>Asthenozoospermia - genetics</subject><subject>Bioinformatics</subject><subject>coxI gene</subject><subject>Cytochrome c</subject><subject>Cytochrome-c oxidase</subject><subject>Electron transfer</subject><subject>Electron transport</subject><subject>Electron Transport Complex IV - genetics</subject><subject>Genes, Mitochondrial</subject><subject>Genetic screening</subject><subject>Humans</subject><subject>Isoleucine</subject><subject>Male</subject><subject>Missense mutation</subject><subject>Mitochondria</subject><subject>Mitochondria - metabolism</subject><subject>Mutation, Missense</subject><subject>Oxygen</subject><subject>Protein structure</subject><subject>Protons</subject><subject>Tunisia</subject><subject>valine</subject><issn>1945-0265</issn><issn>1945-0257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFUctOwzAQtBCIlsKVI_KRS4MfiZMcqwpKpUpwKOfIcTatUWKHOAH6J3wuDn1cudje9cysdgahW0oCSpL0YdPVecAIZQEhETtDY5qG0ZSwKD4_vUU0QlfOvRMiQp6ISzRinHBfpGP082qd03kFWDpnlZadtgbbEkts7CdUuNbOgXGA677bf84Ej6MF1gZ3W9_WnVVba4pWywqr3VC1tgY8x_ZbF9Izl3gDBvCX7rZ-iicZ6xpoay2PIuveaKelwY1t-upvzDW6KGXl4OZwT9Db0-N6_jxdvSyW89lqqjhLOn-KhMYp5bxkKmdShREokcsyImGekJjksfDuQBFynpYFgzAVoWQlUbIMiaB8gu73uk1rP3pwXeY3VlBV0oDtXUY5jQT1xsX_QyljglHOiIcGe6hqvb8tlFnT6lq2u4ySbAguG4LLhuCyIThPuDto93kNxQl-TIr_As3Vldw</recordid><startdate>201211</startdate><enddate>201211</enddate><creator>Baklouti-Gargouri, Siwar</creator><creator>Ghorbel, Myriam</creator><creator>Chamkha, Imen</creator><creator>Mkaouar-Rebai, Emna</creator><creator>Sellami, Afifa</creator><creator>Chakroun, Nozha</creator><creator>Fakhfakh, Faiza</creator><creator>Ammar-Keskes, Leila</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>7QO</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>201211</creationdate><title>Possible association of a novel missense mutation A6375G in the mitochondrial cytochrome C oxidase I gene with asthenospermia in the Tunisian population</title><author>Baklouti-Gargouri, Siwar ; Ghorbel, Myriam ; Chamkha, Imen ; Mkaouar-Rebai, Emna ; Sellami, Afifa ; Chakroun, Nozha ; Fakhfakh, Faiza ; Ammar-Keskes, Leila</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c328t-c368179133f2cb2ac45ec6baf504b8070b76012ed4339fd2e4964a2f0caf40613</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Asthenozoospermia - ethnology</topic><topic>Asthenozoospermia - genetics</topic><topic>Bioinformatics</topic><topic>coxI gene</topic><topic>Cytochrome c</topic><topic>Cytochrome-c oxidase</topic><topic>Electron transfer</topic><topic>Electron transport</topic><topic>Electron Transport Complex IV - genetics</topic><topic>Genes, Mitochondrial</topic><topic>Genetic screening</topic><topic>Humans</topic><topic>Isoleucine</topic><topic>Male</topic><topic>Missense mutation</topic><topic>Mitochondria</topic><topic>Mitochondria - metabolism</topic><topic>Mutation, Missense</topic><topic>Oxygen</topic><topic>Protein structure</topic><topic>Protons</topic><topic>Tunisia</topic><topic>valine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Baklouti-Gargouri, Siwar</creatorcontrib><creatorcontrib>Ghorbel, Myriam</creatorcontrib><creatorcontrib>Chamkha, Imen</creatorcontrib><creatorcontrib>Mkaouar-Rebai, Emna</creatorcontrib><creatorcontrib>Sellami, Afifa</creatorcontrib><creatorcontrib>Chakroun, Nozha</creatorcontrib><creatorcontrib>Fakhfakh, Faiza</creatorcontrib><creatorcontrib>Ammar-Keskes, Leila</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Biotechnology Research Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Genetic testing and molecular biomarkers</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Baklouti-Gargouri, Siwar</au><au>Ghorbel, Myriam</au><au>Chamkha, Imen</au><au>Mkaouar-Rebai, Emna</au><au>Sellami, Afifa</au><au>Chakroun, Nozha</au><au>Fakhfakh, Faiza</au><au>Ammar-Keskes, Leila</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Possible association of a novel missense mutation A6375G in the mitochondrial cytochrome C oxidase I gene with asthenospermia in the Tunisian population</atitle><jtitle>Genetic testing and molecular biomarkers</jtitle><addtitle>Genet Test Mol Biomarkers</addtitle><date>2012-11</date><risdate>2012</risdate><volume>16</volume><issue>11</issue><spage>1298</spage><epage>1302</epage><pages>1298-1302</pages><issn>1945-0265</issn><eissn>1945-0257</eissn><abstract>Cytochrome c oxidase encoded by multiple mitochondrial genes (COXI, COXII, and COXIII) and nuclear genes is an essential component of the mitochondrial respiratory chain that catalyzes the reduction of molecular oxygen by reduced cytochrome c. Subunits COXI and COXII of cytochrome c oxidase are known to play the most essential role in proton pumping and electron transfer. In this study we screened the somatic mitochondrial COXI gene of infertile men suffering from asthenospermia (n=34) in comparison to normozoospermic infertile men (n=32) and fertile men (n=100) from the Tunisian population. A novel homoplasmic missense mitochondrial mutation (m.6375A>G) was found in 5 asthenospermic patients (14%) but not in any of normozoospermic infertile men and fertile men. This mutation substituting the isoleucine at position 158 to valine in a highly conserved amino acid induces a reduction of the hydropathy index (from +1.920 to +0.239) and a decrease of the protein 3D structure number (from 50 to 26) as shown by PolyPhen bioinformatic program.</abstract><cop>United States</cop><pmid>23030649</pmid><doi>10.1089/gtmb.2012.0052</doi><tpages>5</tpages></addata></record> |
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| subjects | Asthenozoospermia - ethnology Asthenozoospermia - genetics Bioinformatics coxI gene Cytochrome c Cytochrome-c oxidase Electron transfer Electron transport Electron Transport Complex IV - genetics Genes, Mitochondrial Genetic screening Humans Isoleucine Male Missense mutation Mitochondria Mitochondria - metabolism Mutation, Missense Oxygen Protein structure Protons Tunisia valine |
| title | Possible association of a novel missense mutation A6375G in the mitochondrial cytochrome C oxidase I gene with asthenospermia in the Tunisian population |
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