Human GABA(B) receptor 1 gene: Eight novel sequence variants

Fuki M. Hisama; Jeffrey R. Gruen; Jenny Choi; Masha Huseinovic; Elena L. Grigorenko; David Pauls; Richard H. Mattson; Joel Gelernter; Frank B. Wood; Vita L. Goei

doi:10.1002/humu.34

Human GABA(B) receptor 1 gene: Eight novel sequence variants

Fuki M. Hisama, Jeffrey R. Gruen, Jenny Choi, Masha Huseinovic, Elena L. Grigorenko, David Pauls, Richard H. Mattson, Joel Gelernter, Frank B. Wood, Vita L. Goei

Pediatrics

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Abstract

GABA (gamma-aminobutyric acid) is the principal inhibitory neurotransmitter in the brain. The human GABA(B) receptor (GABBR1) maps to the human leukocyte antigen (HLA) region of chromosome 6. Its function and location in a susceptibility region for schizophrenia, epilepsy, and dyslexia make GABBR1 a candidate gene for neurobehavioral disorders. We report the characterization of GABBR1 gene mutations in 100 chromosomes from a mixed American population. Eleven distinct mutations were found, including two previously reported missense mutations (A20V and G489S) and a previously reported silent 1977 T>C transition. Here, we report four novel silent substitutions (39C>T, 1473T>C, 1476T>C, 1545T>C) and four novel intron variants. These DNA variants may be useful in association and linkage studies of neurobehavioral disorders, and in pharmacogenetic studies of drugs targeting GABBR1.

Original language	English (US)
Pages (from-to)	349-350
Number of pages	2
Journal	Human Mutation
Volume	17
Issue number	4
DOIs	https://doi.org/10.1002/humu.34
State	Published - Apr 2001

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Human GABA(B) receptor 1 gene: Eight novel sequence variants",

abstract = "GABA (gamma-aminobutyric acid) is the principal inhibitory neurotransmitter in the brain. The human GABA(B) receptor (GABBR1) maps to the human leukocyte antigen (HLA) region of chromosome 6. Its function and location in a susceptibility region for schizophrenia, epilepsy, and dyslexia make GABBR1 a candidate gene for neurobehavioral disorders. We report the characterization of GABBR1 gene mutations in 100 chromosomes from a mixed American population. Eleven distinct mutations were found, including two previously reported missense mutations (A20V and G489S) and a previously reported silent 1977 T>C transition. Here, we report four novel silent substitutions (39C>T, 1473T>C, 1476T>C, 1545T>C) and four novel intron variants. These DNA variants may be useful in association and linkage studies of neurobehavioral disorders, and in pharmacogenetic studies of drugs targeting GABBR1.",

author = "Hisama, {Fuki M.} and Gruen, {Jeffrey R.} and Jenny Choi and Masha Huseinovic and Grigorenko, {Elena L.} and David Pauls and Mattson, {Richard H.} and Joel Gelernter and Wood, {Frank B.} and Goei, {Vita L.}",

year = "2001",

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T1 - Human GABA(B) receptor 1 gene

T2 - Eight novel sequence variants

AU - Hisama, Fuki M.

AU - Gruen, Jeffrey R.

AU - Choi, Jenny

AU - Huseinovic, Masha

AU - Grigorenko, Elena L.

AU - Pauls, David

AU - Mattson, Richard H.

AU - Gelernter, Joel

AU - Wood, Frank B.

AU - Goei, Vita L.

PY - 2001/4

Y1 - 2001/4

N2 - GABA (gamma-aminobutyric acid) is the principal inhibitory neurotransmitter in the brain. The human GABA(B) receptor (GABBR1) maps to the human leukocyte antigen (HLA) region of chromosome 6. Its function and location in a susceptibility region for schizophrenia, epilepsy, and dyslexia make GABBR1 a candidate gene for neurobehavioral disorders. We report the characterization of GABBR1 gene mutations in 100 chromosomes from a mixed American population. Eleven distinct mutations were found, including two previously reported missense mutations (A20V and G489S) and a previously reported silent 1977 T>C transition. Here, we report four novel silent substitutions (39C>T, 1473T>C, 1476T>C, 1545T>C) and four novel intron variants. These DNA variants may be useful in association and linkage studies of neurobehavioral disorders, and in pharmacogenetic studies of drugs targeting GABBR1.

AB - GABA (gamma-aminobutyric acid) is the principal inhibitory neurotransmitter in the brain. The human GABA(B) receptor (GABBR1) maps to the human leukocyte antigen (HLA) region of chromosome 6. Its function and location in a susceptibility region for schizophrenia, epilepsy, and dyslexia make GABBR1 a candidate gene for neurobehavioral disorders. We report the characterization of GABBR1 gene mutations in 100 chromosomes from a mixed American population. Eleven distinct mutations were found, including two previously reported missense mutations (A20V and G489S) and a previously reported silent 1977 T>C transition. Here, we report four novel silent substitutions (39C>T, 1473T>C, 1476T>C, 1545T>C) and four novel intron variants. These DNA variants may be useful in association and linkage studies of neurobehavioral disorders, and in pharmacogenetic studies of drugs targeting GABBR1.

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JF - Human Mutation

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Human GABA(B) receptor 1 gene: Eight novel sequence variants

Abstract

ASJC Scopus subject areas

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