The GABAA receptor β3 subunit gene: Characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7

doi:10.1016/0888-7543(91)90034-C

Genomics

Volume 11, Issue 4, December 1991, Pages 1071-1078

https://doi.org/10.1016/0888-7543(91)90034-C Get rights and content

Abstract

A cDNA encoding the human GABA_A receptor β3 subunit has been isolated from a brain cDNA library and its nucleotide sequence has been determined. This gene, GABRB3, has recently been mapped to human chromosome 15q11q13, the region deleted in Angelman and Prader-Willi syndromes. The association of distinct phenotypes with maternal versus paternal deletions of this region suggests that one or more genes in this region show parental-origin-dependent expression (genetic imprinting). Comparison of the inferred human β3 subunit amino acid sequence with β3 subunit sequences from rat, cow, and chicken shows a very high degree of evolutionary conservation. We have used this cDNA to map the mouse β3 subunit gene, Gabrb-3, in recombinant inbred strains. The gene is located on mouse chromosome 7, very closely linked to Xmv-33 between Tam-1 and Mtv-1, where two other genes from human 15q11q13 have also been mapped. This provides further evidence for a region of conserved synteny between human chromosome 15q11q13 and mouse chromosome 7. Proximal and distal regions of mouse chromosome 7 show genetic imprinting effects; however, the region of homology with human chromosome 15q11q13 has not yet been associated with these effects.

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Regular articleThe GABAA receptor β3 subunit gene: Characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7

Abstract

Neuron

Lancet

Genomics

Anal. Biochem

J. Psychiatr. Res

Genomics

FEBS Lett

Neuron

“Puppet children”: A report on three cases

Dev. Med. Child Neurol

Sequence of the chicken GABAA receptor β3 subunit cDNA

Nucleic Acids Res

Cloning of the γ-aminobutyric acid (GABA) ϱ1 cDNA: A GABA receptor subunit highly expressed in the retina

Linkage map

Genetic analysis of endogenous xenotropic murine leukemia viruses: Association with two common mouse mutations and the viral restriction locus Fv-1

J. Virol

Pleiotropic effects of a mutant at the p locus from X-irradiated mice

Genetics

Clinical heterogeneity associated with deletions in the long arm of chromosome 15

Am. J. Med. Genet

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

Am. J. Med. Genet

Regular article
The GABA_A receptor β3 subunit gene: Characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7

Sequence of the chicken GABA_A receptor β3 subunit cDNA