Human GluR6 kainate receptor (GRIK2): Molecular cloning, expression, polymorphism, and chromosomal assignment

Journal Article · Fri Apr 01 04:00:00 EST 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1198· OSTI ID:7062600

Paschen, W; Blackstone, C D; Huganir, R L ^[1]; Ross, C A ^[2]

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1. Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States)
2. Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States) Max-Planck-Institute for Neurological Research, Koeln (Germany)

Glutamate receptors mediate the majority of excitatory neurotransmission in the brain, and molecular cloning studies have revealed several distinct families. Because neuropathological states and possibly human disorders may involve kainate-preferring glutamate receptors, the authors have isolated a cDNA clone for the human GluR6 kainate-preferring receptor. This clone shows a very high sequence similarity with that of the rat, except for a part of the 3[prime] untranslated region in which there is a TAA triplet repeat. When the protein was overexpressed in human embryonic kidney 293 cells, it had a molecular weight, an antibody recognition, and a glutamate ligand-binding profile similar to those of the rate GluR6 receptor. Northern analysis showed expression in both human cerebral and cerebellar cortices. By PCR analysis of rodent-human monochromosomal cell lines, the human GluR6 could be assigned to chromosome 6. The length of the TAA triplet repeat was polymorphic in the normal population, with at least four alleles and an observed heterozygosity of about 45%. These studies should provide the basis for expression or linkage studies of the GluR6 kainate receptor in human disease or neuropathologic states. 53 refs., 7 figs.

• OSTI ID: 7062600
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 20:3; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AMINO ACIDS
BODY
BRAIN
CARBOXYLIC ACIDS
CENTRAL NERVOUS SYSTEM
CEREBELLUM
CEREBRUM
CHROMOSOMES
CLONING
DISEASES
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
GENES
GENETIC MAPPING
GLUTAMIC ACID
HUMAN CHROMOSOME 6
HUMAN CHROMOSOMES
HYBRIDIZATION
MAPPING
MEMBRANE PROTEINS
NERVOUS SYSTEM
NERVOUS SYSTEM DISEASES
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANS
PROTEINS
RECEPTORS
STRUCTURAL CHEMICAL ANALYSIS