Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes

• Published in: The EMBO journal Vol. 9; no. 3; pp. 771 - 776
• Main Authors: Grenningloh, G., Schmieden, V., Schofield, P.R., Seeburg, P.H., Siddique, T., Mohandas, T.K., Becker, C.M., Betz, H.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group 01.03.1990
• Subjects: Amino Acid Sequence; Animals; Base Sequence; Biological and medical sciences; Blotting, Southern; Chromosome Mapping; Cloning, Molecular; DNA - genetics; Fundamental and applied biological sciences. Psychology; Gene Expression; genes; Genes. Genome; Genetic Variation; Glycine - metabolism; Humans; Hybrid Cells - metabolism; Macromolecular Substances; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; Nucleic Acid Hybridization; Oligonucleotide Probes; Rats; Receptors, Glycine; Receptors, Neurotransmitter - genetics; Sequence Homology, Nucleic Acid; strychnine; X Chromosome; Xenopus; Human; In vitro transcription; Brain; Nucleotide sequence; Sequence alignment; Amphibia; Salientia; Gene expression; Glycine; Variant; Vertebrata; Alkaloid; Microinjection; Complementary DNA; Aminoacid; Plant origin; X-Chromosome; Localization; Southern blotting; Synaptic receptor; Oocyte; Aminoacid sequence
• ISSN: 0261-4189; 1460-2075
• DOI: 10.1002/j.1460-2075.1990.tb08172.x

Two cDNAs encoding variants (alpha 1 and alpha 2) of the strychnine binding subunit of the inhibitory glycine receptor (GlyR) were isolated from a human fetal brain cDNA library. The predicted amino acid sequences exhibit approximately 99% and approximately 76% identity to the previously characterized rat 48 kd polypeptide. Heterologous expression of the human alpha 1 and alpha 2 subunits in Xenopus oocytes resulted in the formation of glycine‐gated strychnine‐sensitive chloride channels, indicating that both polypeptides can form functional GlyRs. Using a panel of rodent‐human hybrid cell lines, the gene encoding alpha 2 was mapped to the short arm (Xp21.2‐p22.1) of the human X chromosome. In contrast, the alpha 1 subunit gene is autosomally located. These data indicate molecular heterogeneity of the human GlyR at the level of alpha subunit genes.