A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene

Hum Mol Genet. 1995 Apr;4(4):717-25. doi: 10.1093/hmg/4.4.717.


Previous genetic and physical studies of LGMD2A, an autosomal recessive form of limb-girdle muscular dystrophy, have led to the establishment of a 10-12 Mb YAC contig encompassing the morbid locus. In order to progress toward the identification of the gene involved in LGMD2A, a primary transcription map of this genomic region was generated. The direct cDNA selection strategy was used with three YACs covering the candidate region and two different muscle cDNA libraries. Seventeen transcription units were identified among 171 cDNA fragments analysed. Five sequences corresponded to known genes, and twelve to new ones. They were characterized for their sequences, physical positions within the YAC contig, and expression patterns. Among those specifically transcribed in muscle, the calpain gene is a good positional and functional candidate for LGMD2A.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 15*
  • Cloning, Molecular
  • DNA, Complementary
  • Humans
  • Molecular Sequence Data
  • Muscles / metabolism
  • Muscular Dystrophies / genetics*
  • Sequence Homology, Amino Acid
  • Transcription, Genetic


  • DNA, Complementary

Associated data

  • GENBANK/Z24846
  • GENBANK/Z47034
  • GENBANK/Z47036
  • GENBANK/Z47039
  • GENBANK/Z47040
  • GENBANK/Z47041
  • GENBANK/Z47042
  • GENBANK/Z47043
  • GENBANK/Z47044
  • GENBANK/Z47045
  • GENBANK/Z47046
  • GENBANK/Z47054