An interethnic variability and a functional prediction of DNA repair gene polymorphisms: the example of XRCC3 (p.Thr241>Met) and XPD (p.Lys751>Gln) in a healthy Tunisian population.
Identifieur interne : 000164 ( Main/Exploration ); précédent : 000163; suivant : 000165An interethnic variability and a functional prediction of DNA repair gene polymorphisms: the example of XRCC3 (p.Thr241>Met) and XPD (p.Lys751>Gln) in a healthy Tunisian population.
Auteurs : Ghada Ben Salah [Tunisie] ; Nourhene Fendri-Kriaa ; Hassen Kamoun ; Fakhri Kallabi ; Emna Mkaouar-Rebai ; Amine Fourati ; Hammadi Ayadi ; Faiza FakhfakhSource :
- Molecular biology reports [ 1573-4978 ] ; 2012.
Descripteurs français
- KwdFr :
- Adulte (MeSH), Adulte d'âge moyen (MeSH), Analyse de séquence d'ADN (MeSH), Biologie informatique (MeSH), Données de séquences moléculaires (MeSH), Femelle (MeSH), Fréquence d'allèle (MeSH), Génotype (MeSH), Humains (MeSH), Jeune adulte (MeSH), Modèles moléculaires (MeSH), Mâle (MeSH), Phylogéographie (MeSH), Polymorphisme de nucléotide simple (MeSH), Polymorphisme de restriction (MeSH), Protéine du groupe de complémentation D de Xeroderma pigmentosum (génétique), Protéines de liaison à l'ADN (génétique), Santé (MeSH), Substitution d'acide aminé (MeSH), Séquence conservée (MeSH), Séquence d'acides aminés (MeSH), Tunisie (MeSH).
- MESH :
- génétique : Protéine du groupe de complémentation D de Xeroderma pigmentosum, Protéines de liaison à l'ADN.
- Adulte, Adulte d'âge moyen, Analyse de séquence d'ADN, Biologie informatique, Données de séquences moléculaires, Femelle, Fréquence d'allèle, Génotype, Humains, Jeune adulte, Modèles moléculaires, Mâle, Phylogéographie, Polymorphisme de nucléotide simple, Polymorphisme de restriction, Santé, Substitution d'acide aminé, Séquence conservée, Séquence d'acides aminés, Tunisie.
- Wicri :
- geographic : Tunisie.
English descriptors
- KwdEn :
- Adult (MeSH), Amino Acid Sequence (MeSH), Amino Acid Substitution (MeSH), Computational Biology (MeSH), Conserved Sequence (MeSH), DNA-Binding Proteins (genetics), Female (MeSH), Gene Frequency (MeSH), Genotype (MeSH), Health (MeSH), Humans (MeSH), Male (MeSH), Middle Aged (MeSH), Models, Molecular (MeSH), Molecular Sequence Data (MeSH), Phylogeography (MeSH), Polymorphism, Restriction Fragment Length (MeSH), Polymorphism, Single Nucleotide (MeSH), Sequence Analysis, DNA (MeSH), Tunisia (MeSH), Xeroderma Pigmentosum Group D Protein (genetics), Young Adult (MeSH).
- MESH :
- chemical , genetics : DNA-Binding Proteins, Xeroderma Pigmentosum Group D Protein.
- geographic : Tunisia.
- Adult, Amino Acid Sequence, Amino Acid Substitution, Computational Biology, Conserved Sequence, Female, Gene Frequency, Genotype, Health, Humans, Male, Middle Aged, Models, Molecular, Molecular Sequence Data, Phylogeography, Polymorphism, Restriction Fragment Length, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Young Adult.
Abstract
Genetic polymorphisms in DNA repair genes might influence the repair activities of the enzymes predisposing individuals to cancer risk. Owing to the presence of these genetic variants, interethnic differences in DNA repair capacity have been observed in various populations. The present study was undertaken to determine the allele and genotype frequencies of two common non-synonymous SNPs, XRCC3 p.Thr241>Met (C > T, rs861539) and XPD p.Lys751>Gln (T > G, rs13181) in a healthy Tunisian population and to compare them with HapMap ( http://www.hapmap.org/ ) populations. Also, we predicted their eventual functional effect based on bioinformatics tools. The genotypes of 154 healthy and unrelated individuals were determined by PCR-RFLP procedure. Our findings showed a close relatedness with Caucasians from European ancestry which might be explained by the strategic geographic location of Tunisia in the Mediterranean, thus allowing exchanges with Europeans countries. The in silico predictions showed that p.Thr241>Met substitution in XRCC3 protein was predicted as possibly damaging, indicating that it is likely to have functional consequences as well. To the best of our knowledge, this is the first study in this regard in Tunisia. So, these data could provide baseline database and help us to explore the relationship of XRCC3 and XPD polymorphisms with both cancer risk and DNA repair variability in our population.
DOI: 10.1007/s11033-012-1829-z
PubMed: 22740138
Affiliations:
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Le document en format XML
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Magida Boulila, 3029 Sfax</wicri:regionArea><wicri:noRegion>3029 Sfax</wicri:noRegion></affiliation></author><author><name sortKey="Fendri Kriaa, Nourhene" sort="Fendri Kriaa, Nourhene" uniqKey="Fendri Kriaa N" first="Nourhene" last="Fendri-Kriaa">Nourhene Fendri-Kriaa</name></author><author><name sortKey="Kamoun, Hassen" sort="Kamoun, Hassen" uniqKey="Kamoun H" first="Hassen" last="Kamoun">Hassen Kamoun</name></author><author><name sortKey="Kallabi, Fakhri" sort="Kallabi, Fakhri" uniqKey="Kallabi F" first="Fakhri" last="Kallabi">Fakhri Kallabi</name></author><author><name sortKey="Mkaouar Rebai, Emna" sort="Mkaouar Rebai, Emna" uniqKey="Mkaouar Rebai E" first="Emna" last="Mkaouar-Rebai">Emna Mkaouar-Rebai</name></author><author><name sortKey="Fourati, Amine" sort="Fourati, Amine" uniqKey="Fourati A" first="Amine" last="Fourati">Amine Fourati</name></author><author><name sortKey="Ayadi, Hammadi" sort="Ayadi, Hammadi" uniqKey="Ayadi H" first="Hammadi" last="Ayadi">Hammadi Ayadi</name></author><author><name sortKey="Fakhfakh, Faiza" sort="Fakhfakh, Faiza" uniqKey="Fakhfakh F" first="Faiza" last="Fakhfakh">Faiza Fakhfakh</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="RBID">pubmed:22740138</idno><idno type="pmid">22740138</idno><idno type="doi">10.1007/s11033-012-1829-z</idno><idno type="wicri:Area/PubMed/Corpus">000656</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000656</idno><idno type="wicri:Area/PubMed/Curation">000652</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000652</idno><idno type="wicri:Area/PubMed/Checkpoint">000674</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000674</idno><idno type="wicri:Area/Main/Merge">000164</idno><idno type="wicri:Area/Main/Curation">000164</idno><idno type="wicri:Area/Main/Exploration">000164</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">An interethnic variability and a functional prediction of DNA repair gene polymorphisms: the example of XRCC3 (p.Thr241>Met) and XPD (p.Lys751>Gln) in a healthy Tunisian population.</title><author><name sortKey="Ben Salah, Ghada" sort="Ben Salah, Ghada" uniqKey="Ben Salah G" first="Ghada" last="Ben Salah">Ghada Ben Salah</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Av. 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Ayadi</name></author><author><name sortKey="Fakhfakh, Faiza" sort="Fakhfakh, Faiza" uniqKey="Fakhfakh F" first="Faiza" last="Fakhfakh">Faiza Fakhfakh</name></author></analytic><series><title level="j">Molecular biology reports</title><idno type="eISSN">1573-4978</idno><imprint><date when="2012" type="published">2012</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>Amino Acid Substitution (MeSH)</term><term>Computational Biology (MeSH)</term><term>Conserved Sequence (MeSH)</term><term>DNA-Binding Proteins (genetics)</term><term>Female (MeSH)</term><term>Gene Frequency (MeSH)</term><term>Genotype (MeSH)</term><term>Health (MeSH)</term><term>Humans (MeSH)</term><term>Male (MeSH)</term><term>Middle Aged (MeSH)</term><term>Models, Molecular (MeSH)</term><term>Molecular Sequence Data (MeSH)</term><term>Phylogeography (MeSH)</term><term>Polymorphism, Restriction Fragment Length (MeSH)</term><term>Polymorphism, Single Nucleotide (MeSH)</term><term>Sequence Analysis, DNA (MeSH)</term><term>Tunisia (MeSH)</term><term>Xeroderma Pigmentosum Group D Protein (genetics)</term><term>Young Adult (MeSH)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte (MeSH)</term><term>Adulte d'âge moyen (MeSH)</term><term>Analyse de séquence d'ADN (MeSH)</term><term>Biologie informatique (MeSH)</term><term>Données de séquences moléculaires (MeSH)</term><term>Femelle (MeSH)</term><term>Fréquence d'allèle (MeSH)</term><term>Génotype (MeSH)</term><term>Humains (MeSH)</term><term>Jeune adulte (MeSH)</term><term>Modèles moléculaires (MeSH)</term><term>Mâle (MeSH)</term><term>Phylogéographie (MeSH)</term><term>Polymorphisme de nucléotide simple (MeSH)</term><term>Polymorphisme de restriction (MeSH)</term><term>Protéine du groupe de complémentation D de Xeroderma pigmentosum (génétique)</term><term>Protéines de 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xml:lang="fr"><term>Tunisie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genetic polymorphisms in DNA repair genes might influence the repair activities of the enzymes predisposing individuals to cancer risk. Owing to the presence of these genetic variants, interethnic differences in DNA repair capacity have been observed in various populations. The present study was undertaken to determine the allele and genotype frequencies of two common non-synonymous SNPs, XRCC3 p.Thr241>Met (C > T, rs861539) and XPD p.Lys751>Gln (T > G, rs13181) in a healthy Tunisian population and to compare them with HapMap ( http://www.hapmap.org/ ) populations. Also, we predicted their eventual functional effect based on bioinformatics tools. The genotypes of 154 healthy and unrelated individuals were determined by PCR-RFLP procedure. Our findings showed a close relatedness with Caucasians from European ancestry which might be explained by the strategic geographic location of Tunisia in the Mediterranean, thus allowing exchanges with Europeans countries. The in silico predictions showed that p.Thr241>Met substitution in XRCC3 protein was predicted as possibly damaging, indicating that it is likely to have functional consequences as well. To the best of our knowledge, this is the first study in this regard in Tunisia. So, these data could provide baseline database and help us to explore the relationship of XRCC3 and XPD polymorphisms with both cancer risk and DNA repair variability in our population.</div></front></TEI><affiliations><list><country><li>Tunisie</li></country></list><tree><noCountry><name sortKey="Ayadi, Hammadi" sort="Ayadi, Hammadi" uniqKey="Ayadi H" first="Hammadi" last="Ayadi">Hammadi Ayadi</name><name sortKey="Fakhfakh, Faiza" sort="Fakhfakh, Faiza" uniqKey="Fakhfakh F" first="Faiza" last="Fakhfakh">Faiza Fakhfakh</name><name sortKey="Fendri Kriaa, Nourhene" sort="Fendri Kriaa, Nourhene" uniqKey="Fendri Kriaa N" first="Nourhene" last="Fendri-Kriaa">Nourhene Fendri-Kriaa</name><name sortKey="Fourati, Amine" sort="Fourati, Amine" uniqKey="Fourati A" first="Amine" last="Fourati">Amine Fourati</name><name sortKey="Kallabi, Fakhri" sort="Kallabi, Fakhri" uniqKey="Kallabi F" first="Fakhri" last="Kallabi">Fakhri Kallabi</name><name sortKey="Kamoun, Hassen" sort="Kamoun, Hassen" uniqKey="Kamoun H" first="Hassen" last="Kamoun">Hassen Kamoun</name><name sortKey="Mkaouar Rebai, Emna" sort="Mkaouar Rebai, Emna" uniqKey="Mkaouar Rebai E" first="Emna" last="Mkaouar-Rebai">Emna Mkaouar-Rebai</name></noCountry><country name="Tunisie"><noRegion><name sortKey="Ben Salah, Ghada" sort="Ben Salah, Ghada" uniqKey="Ben Salah G" first="Ghada" last="Ben Salah">Ghada Ben Salah</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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