Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Identifieur interne : 000286 ( Main/Exploration ); précédent : 000285; suivant : 000287Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Auteurs : Hicham Charoute [Maroc] ; Amina Bakhchane [Maroc] ; Houda Benrahma [Maroc] ; Lilia Romdhane [Tunisie] ; Khalid Gabi [Maroc] ; Hassan Rouba [Maroc] ; Malika Fakiri [Maroc] ; Sonia Abdelhak [Tunisie] ; Guy Lenaers [France] ; Abdelhamid Barakat [Maroc]Source :
- Human mutation [ 1098-1004 ] ; 2015.
Descripteurs français
- KwdFr :
- Bases de données factuelles (MeSH), Bases de données génétiques (MeSH), Dépistage génétique (MeSH), Effet fondateur (MeSH), Génétique des populations (MeSH), Humains (MeSH), Mutation (MeSH), Navigateur (MeSH), Prédisposition génétique à une maladie (MeSH), Région méditerranéenne (MeSH), Variation génétique (MeSH), Émigration et immigration (MeSH), Études d'associations génétiques (MeSH).
- MESH :
English descriptors
- KwdEn :
- Databases, Factual (MeSH), Databases, Genetic (MeSH), Emigration and Immigration (MeSH), Founder Effect (MeSH), Genetic Association Studies (MeSH), Genetic Predisposition to Disease (MeSH), Genetic Testing (MeSH), Genetic Variation (MeSH), Genetics, Population (MeSH), Humans (MeSH), Mediterranean Region (MeSH), Mutation (MeSH), Web Browser (MeSH).
- MESH :
Abstract
The Mediterranean basin has been the theater of migration crossroads followed by settlement of several societies and cultures in prehistoric and historical times, with important consequences on genetic and genomic determinisms. Here, we present the Mediterranean Founder Mutation Database (MFMD), established to offer web-based access to founder mutation information in the Mediterranean population. Mutation data were collected from the literature and other online resources and systematically reviewed and assembled into this database. The information provided for each founder mutation includes DNA change, amino-acid change, mutation type and mutation effect, as well as mutation frequency and coalescence time when available. Currently, the database contains 383 founder mutations found in 210 genes related to 219 diseases. We believe that MFMD will help scientists and physicians to design more rapid and less expensive genetic diagnostic tests. Moreover, the coalescence time of founder mutations gives an overview about the migration history of the Mediterranean population. MFMD can be publicly accessed from http://mfmd.pasteur.ma.
DOI: 10.1002/humu.22835
PubMed: 26173767
Affiliations:
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20360, Casablanca, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca</wicri:regionArea><wicri:noRegion>Casablanca</wicri:noRegion></affiliation></author><author><name sortKey="Rouba, Hassan" sort="Rouba, Hassan" uniqKey="Rouba H" first="Hassan" last="Rouba">Hassan Rouba</name><affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca</wicri:regionArea><wicri:noRegion>Casablanca</wicri:noRegion></affiliation></author><author><name sortKey="Fakiri, Malika" sort="Fakiri, Malika" uniqKey="Fakiri M" first="Malika" last="Fakiri">Malika Fakiri</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Agri-food and Health, Faculty of Sciences and Techniques, Hassan 1st University, BP 577, 26000, Settat, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Laboratory of Agri-food and Health, Faculty of Sciences and Techniques, Hassan 1st University, BP 577, 26000, Settat</wicri:regionArea><wicri:noRegion>Settat</wicri:noRegion></affiliation></author><author><name sortKey="Abdelhak, Sonia" sort="Abdelhak, Sonia" uniqKey="Abdelhak S" first="Sonia" last="Abdelhak">Sonia Abdelhak</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05, Institut Pasteur de Tunis, 1002, Tunis, Tunisia.</nlm:affiliation><country xml:lang="fr">Tunisie</country><wicri:regionArea>Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05, Institut Pasteur de Tunis, 1002, Tunis</wicri:regionArea><placeName><settlement type="city">Tunis</settlement><region nuts="2">Gouvernorat de Tunis</region></placeName></affiliation></author><author><name sortKey="Lenaers, Guy" sort="Lenaers, Guy" uniqKey="Lenaers G" first="Guy" last="Lenaers">Guy Lenaers</name><affiliation wicri:level="4"><nlm:affiliation>Pôle de Recherche et d'Enseignement en Médecine Mitochondriale (PREMMi), Université d'Angers, CHU Bât IRIS/IBS, Rue des Capucins, 49933, Angers cedex 9, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pôle de Recherche et d'Enseignement en Médecine Mitochondriale (PREMMi), Université d'Angers, CHU Bât IRIS/IBS, Rue des Capucins, 49933, Angers cedex 9</wicri:regionArea><placeName><region type="region" nuts="2">Pays de la Loire</region><settlement type="city">Angers</settlement></placeName><orgName type="university">Université d'Angers</orgName></affiliation></author><author><name sortKey="Barakat, Abdelhamid" sort="Barakat, Abdelhamid" uniqKey="Barakat A" first="Abdelhamid" last="Barakat">Abdelhamid Barakat</name><affiliation wicri:level="1"><nlm:affiliation>Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca</wicri:regionArea><wicri:noRegion>Casablanca</wicri:noRegion></affiliation></author></analytic><series><title level="j">Human mutation</title><idno type="eISSN">1098-1004</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Databases, Factual (MeSH)</term><term>Databases, Genetic (MeSH)</term><term>Emigration and Immigration (MeSH)</term><term>Founder Effect (MeSH)</term><term>Genetic Association Studies (MeSH)</term><term>Genetic Predisposition to Disease (MeSH)</term><term>Genetic Testing (MeSH)</term><term>Genetic Variation (MeSH)</term><term>Genetics, Population (MeSH)</term><term>Humans (MeSH)</term><term>Mediterranean Region (MeSH)</term><term>Mutation (MeSH)</term><term>Web Browser (MeSH)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Bases de données factuelles (MeSH)</term><term>Bases de données génétiques (MeSH)</term><term>Dépistage génétique (MeSH)</term><term>Effet fondateur (MeSH)</term><term>Génétique des populations (MeSH)</term><term>Humains (MeSH)</term><term>Mutation (MeSH)</term><term>Navigateur (MeSH)</term><term>Prédisposition génétique à une maladie (MeSH)</term><term>Région méditerranéenne (MeSH)</term><term>Variation génétique (MeSH)</term><term>Émigration et immigration (MeSH)</term><term>Études d'associations génétiques (MeSH)</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Mediterranean Region</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Databases, Factual</term><term>Databases, Genetic</term><term>Emigration and Immigration</term><term>Founder Effect</term><term>Genetic Association Studies</term><term>Genetic Predisposition to Disease</term><term>Genetic Testing</term><term>Genetic Variation</term><term>Genetics, Population</term><term>Humans</term><term>Mutation</term><term>Web Browser</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Bases de données factuelles</term><term>Bases de données génétiques</term><term>Dépistage génétique</term><term>Effet fondateur</term><term>Génétique des populations</term><term>Humains</term><term>Mutation</term><term>Navigateur</term><term>Prédisposition génétique à une maladie</term><term>Région méditerranéenne</term><term>Variation génétique</term><term>Émigration et immigration</term><term>Études d'associations génétiques</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The Mediterranean basin has been the theater of migration crossroads followed by settlement of several societies and cultures in prehistoric and historical times, with important consequences on genetic and genomic determinisms. Here, we present the Mediterranean Founder Mutation Database (MFMD), established to offer web-based access to founder mutation information in the Mediterranean population. Mutation data were collected from the literature and other online resources and systematically reviewed and assembled into this database. The information provided for each founder mutation includes DNA change, amino-acid change, mutation type and mutation effect, as well as mutation frequency and coalescence time when available. Currently, the database contains 383 founder mutations found in 210 genes related to 219 diseases. We believe that MFMD will help scientists and physicians to design more rapid and less expensive genetic diagnostic tests. Moreover, the coalescence time of founder mutations gives an overview about the migration history of the Mediterranean population. MFMD can be publicly accessed from http://mfmd.pasteur.ma. </div></front></TEI><affiliations><list><country><li>France</li><li>Maroc</li><li>Tunisie</li></country><region><li>Gouvernorat de Tunis</li><li>Pays de la Loire</li></region><settlement><li>Angers</li><li>Tunis</li></settlement><orgName><li>Université d'Angers</li></orgName></list><tree><country name="Maroc"><noRegion><name sortKey="Charoute, Hicham" sort="Charoute, Hicham" uniqKey="Charoute H" first="Hicham" last="Charoute">Hicham Charoute</name></noRegion><name sortKey="Bakhchane, Amina" sort="Bakhchane, Amina" uniqKey="Bakhchane A" first="Amina" last="Bakhchane">Amina Bakhchane</name><name sortKey="Barakat, Abdelhamid" sort="Barakat, Abdelhamid" uniqKey="Barakat A" first="Abdelhamid" last="Barakat">Abdelhamid Barakat</name><name sortKey="Benrahma, Houda" sort="Benrahma, Houda" uniqKey="Benrahma H" first="Houda" last="Benrahma">Houda Benrahma</name><name sortKey="Charoute, Hicham" sort="Charoute, Hicham" uniqKey="Charoute H" first="Hicham" last="Charoute">Hicham Charoute</name><name sortKey="Fakiri, Malika" sort="Fakiri, Malika" uniqKey="Fakiri M" first="Malika" last="Fakiri">Malika Fakiri</name><name sortKey="Gabi, Khalid" sort="Gabi, Khalid" uniqKey="Gabi K" first="Khalid" last="Gabi">Khalid Gabi</name><name sortKey="Rouba, Hassan" sort="Rouba, Hassan" uniqKey="Rouba H" first="Hassan" last="Rouba">Hassan Rouba</name></country><country name="Tunisie"><region name="Gouvernorat de Tunis"><name sortKey="Romdhane, Lilia" sort="Romdhane, Lilia" uniqKey="Romdhane L" first="Lilia" last="Romdhane">Lilia Romdhane</name></region><name sortKey="Abdelhak, Sonia" sort="Abdelhak, Sonia" uniqKey="Abdelhak S" first="Sonia" last="Abdelhak">Sonia Abdelhak</name></country><country name="France"><region name="Pays de la Loire"><name sortKey="Lenaers, Guy" sort="Lenaers, Guy" uniqKey="Lenaers G" first="Guy" last="Lenaers">Guy Lenaers</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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