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Cloning, functional characterisation and population analysis of a variant form of the human glycine type 2 transporter
Author(s) -
Evans Joanne,
Herdon Hugh,
Cairns William,
O'Brien Eamonn,
Chapman Conrad,
Terrett Jonathan,
Gloger Israel
Publication year - 1999
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(99)01636-1
Subject(s) - glycine , transporter , complementary dna , population , biology , cloning (programming) , amino acid , glycine receptor , genetics , allele , brainstem , gene , biochemistry , medicine , neuroscience , environmental health , computer science , programming language
Two forms of glycine transporter have been described to date, GlyT‐1 and GlyT‐2. The GlyT‐2 form is expressed mainly in the spinal cord, brainstem and cerebellum. Here we describe the identification of a variant form of the human GlyT‐2 (SC6), showing three amino acid changes to the previously reported protein. Population analysis identified the allele causing one of the polymorphisms, D463N, at 10% within the population with 3% being homozygous for the change. We also transfected our new variant into mammalian cells and compared it to the published cDNA, showing that the three amino acid changes present have no major effect on the biochemical properties of the transporter.