title: Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
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.
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.|Laboratory of Agri-food and Health, Faculty of Sciences and Techniques, Hassan 1st University, BP 577, 26000, Settat, Morocco.
authors.forename: Hicham
authors.initials: H
authors.lastname: Charoute
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.
authors.forename: Amina
authors.initials: A
authors.lastname: Bakhchane
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.
authors.forename: Houda
authors.initials: H
authors.lastname: Benrahma
authors.affiliation: Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05, Institut Pasteur de Tunis, 1002, Tunis, Tunisia.
authors.forename: Lilia
authors.initials: L
authors.lastname: Romdhane
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.
authors.forename: Khalid
authors.initials: K
authors.lastname: Gabi
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.
authors.forename: Hassan
authors.initials: H
authors.lastname: Rouba
authors.affiliation: Laboratory of Agri-food and Health, Faculty of Sciences and Techniques, Hassan 1st University, BP 577, 26000, Settat, Morocco.
authors.forename: Malika
authors.initials: M
authors.lastname: Fakiri
authors.affiliation: Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05, Institut Pasteur de Tunis, 1002, Tunis, Tunisia.
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
authors.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.
authors.forename: Guy
authors.initials: G
authors.lastname: Lenaers
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.
authors.forename: Abdelhamid
authors.initials: A
authors.lastname: Barakat
mesh_terms: D016208:Databases, Factual; D030541:Databases, Genetic; D004641:Emigration and Immigration; D018703:Founder Effect; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D019083:Mediterranean Region; D009154:Mutation; D064878:Web Browser
keywords: Database; Founder Mutation; Mediterranean population; human genetics; mutation screening