A novel m.6307A>G mutation in the mitochondrial COXI gene in asthenozoospermic infertile men.
Identifieur interne : 000638 ( Main/Exploration ); précédent : 000637; suivant : 000639A novel m.6307A>G mutation in the mitochondrial COXI gene in asthenozoospermic infertile men.
Auteurs : Siwar Baklouti-Gargouri [Tunisie] ; Myriam Ghorbel ; Afif Ben Mahmoud ; Emna Mkaouar-Rebai ; Meriam Cherif ; Nozha Chakroun ; Afifa Sellami ; Faiza Fakhfakh ; Leila Ammar-KeskesSource :
- Molecular reproduction and development [ 1098-2795 ] ; 2013.
Descripteurs français
- KwdFr :
- ADN mitochondrial (génétique), Adulte (MeSH), Adulte d'âge moyen (MeSH), Alignement de séquences (MeSH), Amorces ADN (génétique), Analyse de mutations d'ADN (MeSH), Asthénozoospermie (génétique), Complexe IV de la chaîne respiratoire (composition chimique), Complexe IV de la chaîne respiratoire (génétique), Conformation des protéines (MeSH), Données de séquences moléculaires (MeSH), Humains (MeSH), Interactions hydrophobes et hydrophiles (MeSH), Mutation faux-sens (génétique), Mutation ponctuelle (génétique), Mâle (MeSH), Polymorphisme de restriction (MeSH), Séquence d'acides aminés (MeSH), Séquence nucléotidique (MeSH), Tunisie (MeSH).
- MESH :
- composition chimique : Complexe IV de la chaîne respiratoire.
- génétique : ADN mitochondrial, Amorces ADN, Asthénozoospermie, Complexe IV de la chaîne respiratoire, Mutation faux-sens, Mutation ponctuelle.
- Adulte, Adulte d'âge moyen, Alignement de séquences, Analyse de mutations d'ADN, Conformation des protéines, Données de séquences moléculaires, Humains, Interactions hydrophobes et hydrophiles, Mâle, Polymorphisme de restriction, Séquence d'acides aminés, Séquence nucléotidique, Tunisie.
- Wicri :
- geographic : Tunisie.
English descriptors
- KwdEn :
- Adult (MeSH), Amino Acid Sequence (MeSH), Asthenozoospermia (genetics), Base Sequence (MeSH), DNA Mutational Analysis (MeSH), DNA Primers (genetics), DNA, Mitochondrial (genetics), Electron Transport Complex IV (chemistry), Electron Transport Complex IV (genetics), Humans (MeSH), Hydrophobic and Hydrophilic Interactions (MeSH), Male (MeSH), Middle Aged (MeSH), Molecular Sequence Data (MeSH), Mutation, Missense (genetics), Point Mutation (genetics), Polymorphism, Restriction Fragment Length (MeSH), Protein Conformation (MeSH), Sequence Alignment (MeSH), Tunisia (MeSH).
- MESH :
- chemical , chemistry : Electron Transport Complex IV.
- chemical , genetics : DNA Primers, DNA, Mitochondrial, Electron Transport Complex IV.
- geographic : Tunisia.
- genetics : Asthenozoospermia, Mutation, Missense, Point Mutation.
- Adult, Amino Acid Sequence, Base Sequence, DNA Mutational Analysis, Humans, Hydrophobic and Hydrophilic Interactions, Male, Middle Aged, Molecular Sequence Data, Polymorphism, Restriction Fragment Length, Protein Conformation, Sequence Alignment.
Abstract
Infertility affects 10-15% of the population, of which approximately 40% is due to male etiology and consists primarily of low sperm count (oligozoospermia) and/or abnormal sperm motility (asthenozoospermia). Recently, it has been demonstrated that mtDNA substitutions can influence semen quality. In this study, we performed a sequence analysis of the mitochondrial cytochrome oxidase I (COXI) gene in 31 infertile men suffering from asthenozoospermia in comparison to 33 normozoospermic infertile men and 100 fertile men from the Tunisian population. A novel m.6307A>G mutation was found in sperm mitochondrial DNA (mtDNA). This mutation was found in six asthenozoospermic patients, and was absent in normozoospermic and fertile men. We also detected 21 known substitutions previously reported in the Human Mitochondrial Database. The m.6307A>G mutation substitutes a highly conserved asparagine at position 135 to serine. In addition, PolyPhen-2 analysis predicted that this variant is "probably damaging.
DOI: 10.1002/mrd.22197
PubMed: 23712756
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
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Chakroun</name></author><author><name sortKey="Sellami, Afifa" sort="Sellami, Afifa" uniqKey="Sellami A" first="Afifa" last="Sellami">Afifa Sellami</name></author><author><name sortKey="Fakhfakh, Faiza" sort="Fakhfakh, Faiza" uniqKey="Fakhfakh F" first="Faiza" last="Fakhfakh">Faiza Fakhfakh</name></author><author><name sortKey="Ammar Keskes, Leila" sort="Ammar Keskes, Leila" uniqKey="Ammar Keskes L" first="Leila" last="Ammar-Keskes">Leila Ammar-Keskes</name></author></analytic><series><title level="j">Molecular reproduction and development</title><idno type="eISSN">1098-2795</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult (MeSH)</term><term>Amino Acid Sequence (MeSH)</term><term>Asthenozoospermia (genetics)</term><term>Base Sequence (MeSH)</term><term>DNA Mutational Analysis (MeSH)</term><term>DNA Primers (genetics)</term><term>DNA, Mitochondrial (genetics)</term><term>Electron Transport Complex IV (chemistry)</term><term>Electron Transport Complex IV (genetics)</term><term>Humans (MeSH)</term><term>Hydrophobic and Hydrophilic Interactions (MeSH)</term><term>Male (MeSH)</term><term>Middle Aged (MeSH)</term><term>Molecular Sequence Data (MeSH)</term><term>Mutation, Missense (genetics)</term><term>Point Mutation (genetics)</term><term>Polymorphism, Restriction Fragment Length (MeSH)</term><term>Protein Conformation (MeSH)</term><term>Sequence Alignment (MeSH)</term><term>Tunisia (MeSH)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>ADN mitochondrial (génétique)</term><term>Adulte (MeSH)</term><term>Adulte d'âge moyen (MeSH)</term><term>Alignement de séquences (MeSH)</term><term>Amorces ADN (génétique)</term><term>Analyse de mutations d'ADN (MeSH)</term><term>Asthénozoospermie (génétique)</term><term>Complexe IV de la chaîne respiratoire (composition chimique)</term><term>Complexe IV de la chaîne respiratoire (génétique)</term><term>Conformation des protéines (MeSH)</term><term>Données de séquences moléculaires (MeSH)</term><term>Humains (MeSH)</term><term>Interactions hydrophobes et hydrophiles (MeSH)</term><term>Mutation faux-sens (génétique)</term><term>Mutation ponctuelle (génétique)</term><term>Mâle (MeSH)</term><term>Polymorphisme de restriction (MeSH)</term><term>Séquence d'acides aminés (MeSH)</term><term>Séquence nucléotidique (MeSH)</term><term>Tunisie (MeSH)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>Electron Transport Complex IV</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term><term>DNA, Mitochondrial</term><term>Electron Transport Complex IV</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Tunisia</term></keywords><keywords scheme="MESH" qualifier="composition chimique" xml:lang="fr"><term>Complexe IV de la chaîne respiratoire</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asthenozoospermia</term><term>Mutation, Missense</term><term>Point Mutation</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>ADN mitochondrial</term><term>Amorces ADN</term><term>Asthénozoospermie</term><term>Complexe IV de la chaîne respiratoire</term><term>Mutation faux-sens</term><term>Mutation ponctuelle</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Amino Acid Sequence</term><term>Base Sequence</term><term>DNA Mutational Analysis</term><term>Humans</term><term>Hydrophobic and Hydrophilic Interactions</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Polymorphism, Restriction Fragment Length</term><term>Protein Conformation</term><term>Sequence Alignment</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Alignement de séquences</term><term>Analyse de mutations d'ADN</term><term>Conformation des protéines</term><term>Données de séquences moléculaires</term><term>Humains</term><term>Interactions hydrophobes et hydrophiles</term><term>Mâle</term><term>Polymorphisme de restriction</term><term>Séquence d'acides aminés</term><term>Séquence nucléotidique</term><term>Tunisie</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Tunisie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Infertility affects 10-15% of the population, of which approximately 40% is due to male etiology and consists primarily of low sperm count (oligozoospermia) and/or abnormal sperm motility (asthenozoospermia). Recently, it has been demonstrated that mtDNA substitutions can influence semen quality. In this study, we performed a sequence analysis of the mitochondrial cytochrome oxidase I (COXI) gene in 31 infertile men suffering from asthenozoospermia in comparison to 33 normozoospermic infertile men and 100 fertile men from the Tunisian population. A novel m.6307A>G mutation was found in sperm mitochondrial DNA (mtDNA). This mutation was found in six asthenozoospermic patients, and was absent in normozoospermic and fertile men. We also detected 21 known substitutions previously reported in the Human Mitochondrial Database. The m.6307A>G mutation substitutes a highly conserved asparagine at position 135 to serine. In addition, PolyPhen-2 analysis predicted that this variant is "probably damaging.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">23712756</PMID><DateCompleted><Year>2014</Year><Month>02</Month><Day>03</Day></DateCompleted><DateRevised><Year>2013</Year><Month>07</Month><Day>17</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1098-2795</ISSN><JournalIssue CitedMedium="Internet"><Volume>80</Volume><Issue>7</Issue><PubDate><Year>2013</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Molecular reproduction and development</Title><ISOAbbreviation>Mol Reprod Dev</ISOAbbreviation></Journal><ArticleTitle>A novel m.6307A>G mutation in the mitochondrial COXI gene in asthenozoospermic infertile men.</ArticleTitle><Pagination><MedlinePgn>581-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mrd.22197</ELocationID><Abstract><AbstractText>Infertility affects 10-15% of the population, of which approximately 40% is due to male etiology and consists primarily of low sperm count (oligozoospermia) and/or abnormal sperm motility (asthenozoospermia). Recently, it has been demonstrated that mtDNA substitutions can influence semen quality. In this study, we performed a sequence analysis of the mitochondrial cytochrome oxidase I (COXI) gene in 31 infertile men suffering from asthenozoospermia in comparison to 33 normozoospermic infertile men and 100 fertile men from the Tunisian population. A novel m.6307A>G mutation was found in sperm mitochondrial DNA (mtDNA). This mutation was found in six asthenozoospermic patients, and was absent in normozoospermic and fertile men. We also detected 21 known substitutions previously reported in the Human Mitochondrial Database. The m.6307A>G mutation substitutes a highly conserved asparagine at position 135 to serine. In addition, PolyPhen-2 analysis predicted that this variant is "probably damaging.</AbstractText><CopyrightInformation>Copyright © 2013 Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Baklouti-Gargouri</LastName><ForeName>Siwar</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Laboratory of Molecular, Human Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia. asiwarbaklouti@gmail.com</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ghorbel</LastName><ForeName>Myriam</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Ben Mahmoud</LastName><ForeName>Afif</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Mkaouar-Rebai</LastName><ForeName>Emna</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Cherif</LastName><ForeName>Meriam</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Chakroun</LastName><ForeName>Nozha</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Sellami</LastName><ForeName>Afifa</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Fakhfakh</LastName><ForeName>Faiza</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Ammar-Keskes</LastName><ForeName>Leila</ForeName><Initials>L</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>06</Month><Day>17</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mol Reprod Dev</MedlineTA><NlmUniqueID>8903333</NlmUniqueID><ISSNLinking>1040-452X</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D017931">DNA Primers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D004272">DNA, Mitochondrial</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 1.9.3.1</RegistryNumber><NameOfSubstance UI="D003576">Electron Transport Complex IV</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000595" MajorTopicYN="N">Amino Acid Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D053627" MajorTopicYN="N">Asthenozoospermia</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D001483" MajorTopicYN="N">Base Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017931" MajorTopicYN="N">DNA Primers</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004272" MajorTopicYN="N">DNA, Mitochondrial</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D003576" MajorTopicYN="N">Electron Transport Complex IV</DescriptorName><QualifierName UI="Q000737" MajorTopicYN="N">chemistry</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D057927" MajorTopicYN="N">Hydrophobic and Hydrophilic Interactions</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008969" MajorTopicYN="N">Molecular Sequence Data</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="N">Mutation, Missense</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D017354" MajorTopicYN="N">Point Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012150" MajorTopicYN="N">Polymorphism, Restriction Fragment Length</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011487" MajorTopicYN="N">Protein Conformation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016415" 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IdType="doi">10.1002/mrd.22197</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Tunisie</li></country></list><tree><noCountry><name sortKey="Ammar Keskes, Leila" sort="Ammar Keskes, Leila" uniqKey="Ammar Keskes L" first="Leila" last="Ammar-Keskes">Leila Ammar-Keskes</name><name sortKey="Ben Mahmoud, Afif" sort="Ben Mahmoud, Afif" uniqKey="Ben Mahmoud A" first="Afif" last="Ben Mahmoud">Afif Ben Mahmoud</name><name sortKey="Chakroun, Nozha" sort="Chakroun, Nozha" uniqKey="Chakroun N" first="Nozha" last="Chakroun">Nozha Chakroun</name><name sortKey="Cherif, Meriam" sort="Cherif, Meriam" uniqKey="Cherif M" first="Meriam" last="Cherif">Meriam Cherif</name><name sortKey="Fakhfakh, Faiza" sort="Fakhfakh, Faiza" uniqKey="Fakhfakh F" first="Faiza" last="Fakhfakh">Faiza Fakhfakh</name><name sortKey="Ghorbel, Myriam" sort="Ghorbel, Myriam" uniqKey="Ghorbel M" first="Myriam" last="Ghorbel">Myriam Ghorbel</name><name sortKey="Mkaouar Rebai, Emna" sort="Mkaouar Rebai, Emna" uniqKey="Mkaouar Rebai E" first="Emna" last="Mkaouar-Rebai">Emna Mkaouar-Rebai</name><name sortKey="Sellami, Afifa" sort="Sellami, Afifa" uniqKey="Sellami A" first="Afifa" last="Sellami">Afifa Sellami</name></noCountry><country name="Tunisie"><noRegion><name sortKey="Baklouti Gargouri, Siwar" sort="Baklouti Gargouri, Siwar" uniqKey="Baklouti Gargouri S" first="Siwar" last="Baklouti-Gargouri">Siwar Baklouti-Gargouri</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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