Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24

Proc Natl Acad Sci U S A. 1994 May 10;91(10):4446-50. doi: 10.1073/pnas.91.10.4446.

Abstract

Duchenne and Becker muscular dystrophies are caused by defects of dystrophin, which forms a part of the membrane cytoskeleton of specialized cells such as muscle. It has been previously shown that the dystrophin-associated protein A1 (59-kDa DAP) is actually a heterogeneous group of phosphorylated proteins consisting of an acidic (alpha-A1) and a distinct basic (beta-A1) component. Partial peptide sequence of the A1 complex purified from rabbit muscle permitted the design of oligonucleotide probes that were used to isolate a cDNA for one human isoform of A1. This cDNA encodes a basic A1 isoform that is distinct from the recently described syntrophins in Torpedo and mouse and is expressed in many tissues with at least five distinct mRNA species of 5.9, 4.8, 4.3, 3.1, and 1.5 kb. A comparison of our human cDNA sequence with the GenBank expressed sequence tag (EST) data base has identified a relative from human skeletal muscle, EST25263, which is probably a human homologue of the published mouse syntrophin 2. We have mapped the human basic component of A1 and EST25263 genes to chromosomes 8q23-24 and 16, respectively.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 8*
  • Cloning, Molecular
  • Cytoskeletal Proteins / biosynthesis
  • Cytoskeletal Proteins / genetics*
  • DNA Primers
  • DNA, Complementary / analysis
  • Dystrophin / genetics
  • Dystrophin-Associated Proteins
  • Humans
  • Hybrid Cells
  • In Situ Hybridization, Fluorescence
  • Membrane Proteins*
  • Mice
  • Molecular Sequence Data
  • Muscular Dystrophies / genetics
  • Polymerase Chain Reaction
  • Rodentia
  • Sequence Homology, Amino Acid

Substances

  • Cytoskeletal Proteins
  • DNA Primers
  • DNA, Complementary
  • Dystrophin
  • Dystrophin-Associated Proteins
  • Membrane Proteins
  • syntrophin

Associated data

  • GENBANK/L31529