MaghrebDataLibMedV1, Main, Exploration, bibRecord, 000618

Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men.

Identifieur interne : 000618 ( Main/Exploration ); précédent : 000617; suivant : 000619

Mitochondrial DNA mutations and polymorphisms in asthenospermic 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-Keskes

Source :

Molecular biology reports [ 1573-4978 ] ; 2013.

RBID : pubmed:23645088

Descripteurs français

English descriptors

KwdEn :
- Amino Acid Sequence (MeSH), Asthenozoospermia (genetics), Base Sequence (MeSH), Chromosome Deletion (MeSH), Chromosomes, Human, Y (genetics), Computational Biology (MeSH), DNA Primers (genetics), DNA, Mitochondrial (genetics), Electron Transport Complex IV (genetics), Humans (MeSH), Male (MeSH), Molecular Sequence Data (MeSH), Mutation, Missense (genetics), Polymorphism, Restriction Fragment Length (MeSH), Polymorphism, Single Nucleotide (genetics), Sequence Alignment (MeSH), Sequence Analysis, DNA (MeSH), Tunisia (MeSH).
MESH :
- chemical , genetics : DNA Primers, DNA, Mitochondrial, Electron Transport Complex IV.
- geographic : Tunisia.
- genetics : Asthenozoospermia, Chromosomes, Human, Y, Mutation, Missense, Polymorphism, Single Nucleotide.
- Amino Acid Sequence, Base Sequence, Chromosome Deletion, Computational Biology, Humans, Male, Molecular Sequence Data, Polymorphism, Restriction Fragment Length, Sequence Alignment, Sequence Analysis, DNA.

Abstract

In this study we performed a systematic sequence analysis of 6 mitochondrial genes (cytochrome oxidase I, cytochrome oxidase II, cytochrome oxidase III, adenosine triphosphate synthase6, ATP synthase8, and cytochrome b] in 66 infertile men suffering from asthenospermia (n=34) in comparison to normospermic infertile men (n=32) and fertile men (n=100) from Tunisian population. A total of 72 nucleotide substitutions in blood cells mitochondrial DNA were found; 63 of them were previously identified and reported in the human mitochondrial DNA database ( www.mitomap.org ) and 9 were novel. We also detected in 3 asthenospermic patients a novel heteroplasmic missense mitochondrial mutation (m.9387 G>A) in COXIII gene (8.8%) that was not found in any of normospermic infertile and fertile men. This mutation substituting the valine at position 61 to methionine in a conserved amino acid in the transmembrane functional domain of the polypeptide, induces a reduction of the hydropathy index (from +1.225 to +1.100) and a decrease of the protein 3D structures number (from 39 to 32) as shown by PolyPhen bioinformatic program.

DOI: 10.1007/s11033-013-2566-7
PubMed: 23645088

Affiliations:

Tunisie

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Le document en format XML

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<term>Base Sequence (MeSH)</term>
<term>Chromosome Deletion (MeSH)</term>
<term>Chromosomes, Human, Y (genetics)</term>
<term>Computational Biology (MeSH)</term>
<term>DNA Primers (genetics)</term>
<term>DNA, Mitochondrial (genetics)</term>
<term>Electron Transport Complex IV (genetics)</term>
<term>Humans (MeSH)</term>
<term>Male (MeSH)</term>
<term>Molecular Sequence Data (MeSH)</term>
<term>Mutation, Missense (genetics)</term>
<term>Polymorphism, Restriction Fragment Length (MeSH)</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>Sequence Alignment (MeSH)</term>
<term>Sequence Analysis, DNA (MeSH)</term>
<term>Tunisia (MeSH)</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>ADN mitochondrial (génétique)</term>
<term>Alignement de séquences (MeSH)</term>
<term>Amorces ADN (génétique)</term>
<term>Analyse de séquence d'ADN (MeSH)</term>
<term>Asthénozoospermie (génétique)</term>
<term>Biologie informatique (MeSH)</term>
<term>Chromosomes Y humains (génétique)</term>
<term>Complexe IV de la chaîne respiratoire (génétique)</term>
<term>Données de séquences moléculaires (MeSH)</term>
<term>Délétion de segment de chromosome (MeSH)</term>
<term>Humains (MeSH)</term>
<term>Mutation faux-sens (génétique)</term>
<term>Mâle (MeSH)</term>
<term>Polymorphisme de nucléotide simple (génétique)</term>
<term>Polymorphisme de restriction (MeSH)</term>
<term>Séquence d'acides aminés (MeSH)</term>
<term>Séquence nucléotidique (MeSH)</term>
<term>Tunisie (MeSH)</term>
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<term>DNA, Mitochondrial</term>
<term>Electron Transport Complex IV</term>
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<term>Chromosomes, Human, Y</term>
<term>Mutation, Missense</term>
<term>Polymorphism, Single Nucleotide</term>
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<term>Base Sequence</term>
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<term>Computational Biology</term>
<term>Humans</term>
<term>Male</term>
<term>Molecular Sequence Data</term>
<term>Polymorphism, Restriction Fragment Length</term>
<term>Sequence Alignment</term>
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<term>Analyse de séquence d'ADN</term>
<term>Biologie informatique</term>
<term>Données de séquences moléculaires</term>
<term>Délétion de segment de chromosome</term>
<term>Humains</term>
<term>Mâle</term>
<term>Polymorphisme de restriction</term>
<term>Séquence d'acides aminés</term>
<term>Séquence nucléotidique</term>
<term>Tunisie</term>
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<front><div type="abstract" xml:lang="en">In this study we performed a systematic sequence analysis of 6 mitochondrial genes (cytochrome oxidase I, cytochrome oxidase II, cytochrome oxidase III, adenosine triphosphate synthase6, ATP synthase8, and cytochrome b] in 66 infertile men suffering from asthenospermia (n=34) in comparison to normospermic infertile men (n=32) and fertile men (n=100) from Tunisian population. A total of 72 nucleotide substitutions in blood cells mitochondrial DNA were found; 63 of them were previously identified and reported in the human mitochondrial DNA database ( www.mitomap.org ) and 9 were novel. We also detected in 3 asthenospermic patients a novel heteroplasmic missense mitochondrial mutation (m.9387 G>A) in COXIII gene (8.8%) that was not found in any of normospermic infertile and fertile men. This mutation substituting the valine at position 61 to methionine in a conserved amino acid in the transmembrane functional domain of the polypeptide, induces a reduction of the hydropathy index (from +1.225 to +1.100) and a decrease of the protein 3D structures number (from 39 to 32) as shown by PolyPhen bioinformatic program.</div>
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<Abstract><AbstractText>In this study we performed a systematic sequence analysis of 6 mitochondrial genes (cytochrome oxidase I, cytochrome oxidase II, cytochrome oxidase III, adenosine triphosphate synthase6, ATP synthase8, and cytochrome b] in 66 infertile men suffering from asthenospermia (n=34) in comparison to normospermic infertile men (n=32) and fertile men (n=100) from Tunisian population. A total of 72 nucleotide substitutions in blood cells mitochondrial DNA were found; 63 of them were previously identified and reported in the human mitochondrial DNA database ( www.mitomap.org ) and 9 were novel. We also detected in 3 asthenospermic patients a novel heteroplasmic missense mitochondrial mutation (m.9387 G>A) in COXIII gene (8.8%) that was not found in any of normospermic infertile and fertile men. This mutation substituting the valine at position 61 to methionine in a conserved amino acid in the transmembrane functional domain of the polypeptide, induces a reduction of the hydropathy index (from +1.225 to +1.100) and a decrease of the protein 3D structures number (from 39 to 32) as shown by PolyPhen bioinformatic program.</AbstractText>
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Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men.

Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men.

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