GABA (γ-amino-butyric acid) neurotransmission: Identification and fine mapping of the human GABA(B) receptor gene

Anna Grifa, Angela Totaro, Johanna M. Rommens, Massimo Carella, Antonella Roetto, Lorena Borgato, Leopoldo Zelante, Paolo Gasparini

Research output: Contribution to journalArticlepeer-review

Abstract

GABA (γ-amino-butyric acid) receptors are a family of proteins involved in the GABAergic neurotransmission of the mammalian central nervous system (CNS). They have physiological importance and clinical relevance in several diseases. We report the identification, cloning, and fine mapping of the human cDNA for GABA(B) receptor. A 4.2-Kb cDNA containing an open reading frame for a predicted protein of 960 aa was isolated from a fetal brain cDNA library. It had a strong identity (91.5%) with the rat GABA(B) receptor (rGB1A) nucleotide sequence, that corresponded to 98.6% identity at the amino acid level. Expression of the GABA(B) at the transcription level was detected by Northern analysis in all brain areas examined. The GABA(B) receptor has been mapped to human chromosome 6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have been suggested to map in this region.

Original languageEnglish
Pages (from-to)240-245
Number of pages6
JournalBiochemical and Biophysical Research Communications
Volume250
Issue number2
DOIs
Publication statusPublished - Sep 18 1998

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

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