Cloning and primary structure of a human islet isoform of glutamic acid decarboxylase from chromosome 10

Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8337-41. doi: 10.1073/pnas.88.19.8337.

Abstract

Glutamic acid decarboxylase (GAD; glutamate decarboxylase, L-glutamate 1-carboxy-lyase, EC 4.1.1.15), which catalyzes formation of gamma-aminobutyric acid from L-glutamic acid, is detectable in different isoforms with distinct electrophoretic and kinetic characteristics. GAD has also been implicated as an autoantigen in the vastly differing autoimmune disease stiff-man syndrome and insulin-dependent diabetes mellitus. Despite the differing GAD isoforms, only one type of GAD cDNA (GAD-1), localized to a syntenic region of chromosome 2, has been isolated from rat, mouse, and cat. Using sequence information from GAD-1 to screen a human pancreatic islet cDNA library, we describe the isolation of an additional GAD cDNA (GAD-2), which was mapped to the short arm of human chromosome 10. Genomic Southern blotting with GAD-2 demonstrated a hybridization pattern different from that detected by GAD-1. GAD-2 recognizes a 5.6-kilobase transcript in both islets and brain, in contrast to GAD-1, which detects a 3.7-kilobase transcript in brain only. The deduced 585-amino acid sequence coded for by GAD-2 shows less than 65% identity to previously published, highly conserved GAD-1 brain sequences, which show greater than 96% deduced amino acid sequence homology among the three species. The function of this additional islet GAD isoform and its importance as an autoantigen in insulin-dependent diabetes remain to be determined.

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
  • Base Sequence
  • Blotting, Northern
  • Blotting, Southern
  • Chromosome Mapping
  • Chromosomes, Human, Pair 10*
  • Cloning, Molecular
  • Gene Expression
  • Genes
  • Glutamate Dehydrogenase / genetics*
  • Humans
  • Islets of Langerhans / enzymology*
  • Molecular Sequence Data
  • Protein Conformation
  • RNA, Messenger / genetics
  • Sequence Alignment

Substances

  • RNA, Messenger
  • Glutamate Dehydrogenase

Associated data

  • GENBANK/M64687
  • GENBANK/M64688
  • GENBANK/M74826
  • GENBANK/M94197
  • GENBANK/M94198
  • GENBANK/M94199
  • GENBANK/M94200
  • GENBANK/S55106
  • GENBANK/S57129
  • GENBANK/X53420