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)

• Published in: Genomics (San Diego, Calif.) Vol. 29; no. 1; pp. 163 - 169
• Main Authors: Guilford, Parry, Dodé, Catherine, Crozet, Fabien, Blanchard, Stéphane, Chaı̈b, Hassan, Levilliers, Jacqueline, Levi-Acobas, Fabienne, Weil, Dominique, Weissenbach, Jean, Cohen, Daniel, Le Paslier, Denis, Kaplan, Jean-Claude, Petit, Christine
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 01-09-1995; Elsevier
• Subjects: Animals; Base Sequence; Biological and medical sciences; Centromere; Child; Chromosome Mapping; Chromosomes, Artificial, Yeast; Chromosomes, Human, Pair 13; Classical genetics, quantitative genetics, hybrids; Cochlea - metabolism; Connexins; Deafness - genetics; DNA Primers; Fundamental and applied biological sciences. Psychology; Gene Library; Genetics of eukaryotes. Biological and molecular evolution; Human; Humans; Mice; Molecular Sequence Data; Muscular Dystrophies - genetics; Polymerase Chain Reaction; Polymorphism, Genetic; Sequence Tagged Sites; Tubulin - genetics; Genetic mapping; Human; Central hearing loss; Tubulin; Gene; Genetic marker; Contig; Contractile protein; D13-Chromosome; Limb girdle muscular dystrophy; Expressed sequence tag; Physical map
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1995.1227

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.