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 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-AF M128yc1-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 alpha-tubulin gene (TUBA2) that was subsequently precisely mapped within the candidate region.
Guilford
P
P
Unité de Génétique Moléculaire Humaine, URA CNRS 1968, Institut Pasteur, Paris, France.
Dodé
C
C
Crozet
F
F
Blanchard
S
S
Chaïb
H
H
Levilliers
J
J
Levi-Acobas
F
F
Weil
D
D
Weissenbach
J
J
Cohen
D
D
D000818:Animals; D001483:Base Sequence; D002503:Centromere; D002648:Child; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002882:Chromosomes, Human, Pair 13; D003051:Cochlea / Q000378:metabolism; D000072259:Connexin 26; D017630:Connexins; D017931:DNA Primers; D003638:Deafness / Q000235:genetics*; D015723:Gene Library; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D016324:Sequence Tagged Sites; D014404:Tubulin / Q000235:genetics*
D017630:Connexins; D017931:DNA Primers; C000607042:GJB2 protein, human; D014404:Tubulin; D000072259:Connexin 26