Publications (2)3.02 Total impact
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Article: A YAC Contig and an EST Map in the Pericentromeric Region of Chromosome 13 Surrounding the Loci for Neurosensory Nonsyndromic Deafness (DFNB1 and DFNA3) and Limb-Girdle Muscular Dystrophy Type 2C (LGMD2C)
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ABSTRACT: Two forms of inherited childhood nonsyndromic deafness (DFNB1 and DFNA3) and a Duchenne-like form of progressive muscular dystrophy (LGMD2C) have been mapped to the pericentromeric region of chromosome 13. To clone the genes responsible for these diseases we constructed a yeast artificial chromosome (YAC) contig spanning an 8-cM region between the polymorphic markers D13S175 and D13S221. The contig comprises 24 sequence-tagged sites, among which 15 were newly obtained. This contig allowed us to order the polymorphic markers centromere-D13S175-D13S141-D13S143-D13S115-AFM128yc1-D13S292-D13S283-AFM323vh5-D13S221-telomere. Eight expressed sequence tags, previously assigned to 13q11-q12 (D13S182E, D13S183E, D13S502E, D13S504E, D13S505E, D13S837E, TUBA2, ATP1AL1), were localized on the YAC contig. YAC screening of a cDNA library derived from mouse cochlea allowed us to identify an α-tubulin gene (TUBA2) that was subsequently precisely mapped within the candidate region.Genomics 10/1995; · 3.02 Impact Factor -
Article: Syndrome de Usher de type IB : Anomalie d'une myosine non conventionnelle
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ABSTRACT: Le syndrome de Usher associe une surdité congénitale et une rétinite pigmentaire évolutive. Il comprend trois formes cliniques qui se transmettent toutes selon le mode autosomique récessif. Le type I désigne la forme la plus grave; au moins quatre genes distincts en sont responsables. Nous avons récemment identifié le gene responsable du type IB. Ce gene code pour une myosine non conventionnelle, la myosine VIIA.Annales de l'Institut Pasteur / Actualités.
