Two novel mutations in COII and tRNA(His) mitochondrial genes in asthenozoospermic infertiles men.
Identifieur interne : 000242 ( Main/Exploration ); précédent : 000241; suivant : 000243Two novel mutations in COII and tRNA(His) mitochondrial genes in asthenozoospermic infertiles men.
Auteurs : Baklouti-Gargouri Siwar [Tunisie] ; Ghorbel Myriam [Tunisie] ; Ben Mahmoud Afif [Tunisie] ; Mkaouar-Rebai Emna [Tunisie] ; Chakroun Nozha [Tunisie] ; Sellami Afifa [Tunisie] ; Fakhfakh Faiza [Tunisie] ; Ammar-Keskes Leila [Tunisie]Source :
- Biochemical and biophysical research communications [ 1090-2104 ] ; 2014.
Descripteurs français
- KwdFr :
- ARN de transfert de l'histidine (génétique), Adulte (MeSH), Adulte d'âge moyen (MeSH), Asthénozoospermie (génétique), Complexe IV de la chaîne respiratoire (génétique), Humains (MeSH), Jeune adulte (MeSH), Mitochondries (génétique), Mutation (génétique), Mâle (MeSH), Polymorphisme de nucléotide simple (génétique), Protéines mitochondriales (génétique), Prédisposition génétique à une maladie (génétique).
- MESH :
English descriptors
- KwdEn :
- Adult (MeSH), Asthenozoospermia (genetics), Electron Transport Complex IV (genetics), Genetic Predisposition to Disease (genetics), Humans (MeSH), Male (MeSH), Middle Aged (MeSH), Mitochondria (genetics), Mitochondrial Proteins (genetics), Mutation (genetics), Polymorphism, Single Nucleotide (genetics), RNA, Transfer, His (genetics), Young Adult (MeSH).
- MESH :
- chemical , genetics : Electron Transport Complex IV, Mitochondrial Proteins, RNA, Transfer, His.
- genetics : Asthenozoospermia, Genetic Predisposition to Disease, Mitochondria, Mutation, Polymorphism, Single Nucleotide.
- Adult, Humans, Male, Middle Aged, Young Adult.
Abstract
In this study we performed a systematic sequence analysis of 7 mitochondrial genes (cytochrome oxidase I, cytochrome oxidase II, cytochrome oxidase III, adenosine triphosphate synthase6, ATP synthase8, cytochrome b and tRNA(His)) in 64 infertile men suffering from asthenospermia (n=31) in comparison to normospermic infertile men (n=33) from Tunisian population. A total of 92 nucleotide substitutions in sperm mitochondrial DNA were found; 88 of them were previously identified and reported in the human mitochondrial DNA database (www.mitomap.org) and 4 were novel. We also detected in 4 asthenospermic patients a double novels mutations, the first was found in COXII gene (m.8021 G/A) that was absent in normospermic infertile men. This mutation substituting the Isoleucine at position 146 to Valine in a conserved amino acid in the transmembrane functional domain of the protein. And the second was detected in the tRNA(His) gene (m.12187C>A) this mutation was found in homoplasmic state and was absent in normospermic patients. It was conserved throughout evolution and affects a wobble adenine in the T-loop region at the 54 codon of mitochondrial tRNA(His) .
DOI: 10.1016/j.bbrc.2014.06.020
PubMed: 24931671
Affiliations:
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Le document en format XML
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Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia; Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax</wicri:regionArea><wicri:noRegion>University of Sfax</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:24931671</idno><idno type="pmid">24931671</idno><idno type="doi">10.1016/j.bbrc.2014.06.020</idno><idno type="wicri:Area/PubMed/Corpus">000572</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000572</idno><idno type="wicri:Area/PubMed/Curation">000569</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000569</idno><idno type="wicri:Area/PubMed/Checkpoint">000558</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000558</idno><idno type="wicri:Area/Main/Merge">000242</idno><idno type="wicri:Area/Main/Curation">000242</idno><idno type="wicri:Area/Main/Exploration">000242</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Two novel mutations in COII and tRNA(His) mitochondrial genes in asthenozoospermic infertiles men.</title><author><name sortKey="Siwar, Baklouti Gargouri" sort="Siwar, Baklouti Gargouri" uniqKey="Siwar B" first="Baklouti-Gargouri" last="Siwar">Baklouti-Gargouri Siwar</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia. Electronic address: asiwarbaklouti@gmail.com.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax</wicri:regionArea><wicri:noRegion>University of Sfax</wicri:noRegion></affiliation></author><author><name sortKey="Myriam, Ghorbel" sort="Myriam, Ghorbel" uniqKey="Myriam G" first="Ghorbel" last="Myriam">Ghorbel Myriam</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax</wicri:regionArea><wicri:noRegion>University of Sfax</wicri:noRegion></affiliation></author><author><name sortKey="Afif, Ben Mahmoud" sort="Afif, Ben Mahmoud" uniqKey="Afif B" first="Ben Mahmoud" last="Afif">Ben Mahmoud Afif</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax</wicri:regionArea><wicri:noRegion>University of Sfax</wicri:noRegion></affiliation></author><author><name sortKey="Emna, Mkaouar Rebai" sort="Emna, Mkaouar Rebai" uniqKey="Emna M" first="Mkaouar-Rebai" last="Emna">Mkaouar-Rebai Emna</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax</wicri:regionArea><wicri:noRegion>University of Sfax</wicri:noRegion></affiliation></author><author><name sortKey="Nozha, Chakroun" sort="Nozha, Chakroun" uniqKey="Nozha C" first="Chakroun" last="Nozha">Chakroun Nozha</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax</wicri:regionArea><wicri:noRegion>University of Sfax</wicri:noRegion></affiliation></author><author><name sortKey="Afifa, Sellami" sort="Afifa, Sellami" uniqKey="Afifa S" first="Sellami" last="Afifa">Sellami Afifa</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax</wicri:regionArea><wicri:noRegion>University of Sfax</wicri:noRegion></affiliation></author><author><name sortKey="Faiza, Fakhfakh" sort="Faiza, Fakhfakh" uniqKey="Faiza F" first="Fakhfakh" last="Faiza">Fakhfakh Faiza</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax</wicri:regionArea><wicri:noRegion>University of Sfax</wicri:noRegion></affiliation></author><author><name sortKey="Leila, Ammar Keskes" sort="Leila, Ammar Keskes" uniqKey="Leila A" first="Ammar-Keskes" last="Leila">Ammar-Keskes Leila</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia; Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia; Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax</wicri:regionArea><wicri:noRegion>University of Sfax</wicri:noRegion></affiliation></author></analytic><series><title level="j">Biochemical and biophysical research communications</title><idno type="eISSN">1090-2104</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult (MeSH)</term><term>Asthenozoospermia (genetics)</term><term>Electron Transport Complex IV (genetics)</term><term>Genetic Predisposition to Disease (genetics)</term><term>Humans (MeSH)</term><term>Male (MeSH)</term><term>Middle Aged (MeSH)</term><term>Mitochondria (genetics)</term><term>Mitochondrial Proteins (genetics)</term><term>Mutation (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>RNA, Transfer, His (genetics)</term><term>Young Adult (MeSH)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>ARN de transfert de l'histidine (génétique)</term><term>Adulte (MeSH)</term><term>Adulte d'âge moyen (MeSH)</term><term>Asthénozoospermie (génétique)</term><term>Complexe IV de la chaîne respiratoire (génétique)</term><term>Humains (MeSH)</term><term>Jeune adulte (MeSH)</term><term>Mitochondries (génétique)</term><term>Mutation (génétique)</term><term>Mâle (MeSH)</term><term>Polymorphisme de nucléotide simple (génétique)</term><term>Protéines mitochondriales (génétique)</term><term>Prédisposition génétique à une maladie (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Electron Transport Complex IV</term><term>Mitochondrial Proteins</term><term>RNA, Transfer, His</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asthenozoospermia</term><term>Genetic Predisposition to Disease</term><term>Mitochondria</term><term>Mutation</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>ARN de transfert de l'histidine</term><term>Asthénozoospermie</term><term>Complexe IV de la chaîne respiratoire</term><term>Mitochondries</term><term>Mutation</term><term>Polymorphisme de nucléotide simple</term><term>Protéines mitochondriales</term><term>Prédisposition génétique à une maladie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Humains</term><term>Jeune adulte</term><term>Mâle</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In this study we performed a systematic sequence analysis of 7 mitochondrial genes (cytochrome oxidase I, cytochrome oxidase II, cytochrome oxidase III, adenosine triphosphate synthase6, ATP synthase8, cytochrome b and tRNA(His)) in 64 infertile men suffering from asthenospermia (n=31) in comparison to normospermic infertile men (n=33) from Tunisian population. A total of 92 nucleotide substitutions in sperm mitochondrial DNA were found; 88 of them were previously identified and reported in the human mitochondrial DNA database (www.mitomap.org) and 4 were novel. We also detected in 4 asthenospermic patients a double novels mutations, the first was found in COXII gene (m.8021 G/A) that was absent in normospermic infertile men. This mutation substituting the Isoleucine at position 146 to Valine in a conserved amino acid in the transmembrane functional domain of the protein. And the second was detected in the tRNA(His) gene (m.12187C>A) this mutation was found in homoplasmic state and was absent in normospermic patients. It was conserved throughout evolution and affects a wobble adenine in the T-loop region at the 54 codon of mitochondrial tRNA(His) . </div></front></TEI><affiliations><list><country><li>Tunisie</li></country></list><tree><country name="Tunisie"><noRegion><name sortKey="Siwar, Baklouti Gargouri" sort="Siwar, Baklouti Gargouri" uniqKey="Siwar B" first="Baklouti-Gargouri" last="Siwar">Baklouti-Gargouri Siwar</name></noRegion><name sortKey="Afif, Ben Mahmoud" sort="Afif, Ben Mahmoud" uniqKey="Afif B" first="Ben Mahmoud" last="Afif">Ben Mahmoud Afif</name><name sortKey="Afifa, Sellami" sort="Afifa, Sellami" uniqKey="Afifa S" first="Sellami" last="Afifa">Sellami Afifa</name><name sortKey="Emna, Mkaouar Rebai" sort="Emna, Mkaouar Rebai" uniqKey="Emna M" first="Mkaouar-Rebai" last="Emna">Mkaouar-Rebai Emna</name><name sortKey="Faiza, Fakhfakh" sort="Faiza, Fakhfakh" uniqKey="Faiza F" first="Fakhfakh" last="Faiza">Fakhfakh Faiza</name><name sortKey="Leila, Ammar Keskes" sort="Leila, Ammar Keskes" uniqKey="Leila A" first="Ammar-Keskes" last="Leila">Ammar-Keskes Leila</name><name sortKey="Myriam, Ghorbel" sort="Myriam, Ghorbel" uniqKey="Myriam G" first="Ghorbel" last="Myriam">Ghorbel Myriam</name><name sortKey="Nozha, Chakroun" sort="Nozha, Chakroun" uniqKey="Nozha C" first="Chakroun" last="Nozha">Chakroun Nozha</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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