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)

Two forms of inherited childhood nonsyndromic deafness (DFNB1 and DFNA 3) and a Duchenne-like form of progressive muscular dystrophy (LGMD2C) have been mapped to the pericentromeric region of chromosome 13. To c lone the genes responsible for these diseases we constructed a yeast a rtificial chromosome (YAC) contig spanning an 8-cM region between the polymorphic markers D13S175 and D13S221, The contig comprises 24 seque nce-tagged sites, among which 15 were newly obtained. This contig allo wed us to order the polymorphic markers centromere-D13S175 - D13S141 - D13S143 - D13S115 - AFM128yc1 - D13S292 - D13S283 - AFM323vh5 - D13S2 21 - telomere. Eight expressed sequence tags, previously assigned to 1 3q11-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 alph a-tubulin gene (TUBA2) that was subsequently precisely mapped within t he candidate region. (C) 1995 Academic Press, Inc.