title: The UDP-galactose translocator gene is mapped to band Xp11.23-p11.22 containing the Wiskott-Aldrich syndrome locus.
abstract: We have cloned a segment of the human gene encoding UDP-galactose translocator by genetic complementation of its defective mutant in mouse FM3A cells. Chromosome mapping using fluorescent in situ hybridization revealed that the cloned gene hybridized to the Xp11.23-11.23 region of the X chromosome. This region is shared by the locus of Wiskott-Aldrich syndrome, an X-linked recessive immunodeficiency disorder, characterized by defective sugar chains on cell surface components. Genetic and phenotypic similarities suggest a possible link between UDP-galactose translocator and the Wiskott-Aldrich syndrome (WAS).
authors.affiliation: Department of Pure and Applied Sciences, College of Arts and Sciences, University of Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Hara
authors.forename: M
authors.initials: M
authors.lastname: Yamauchi
authors.forename: E
authors.initials: E
authors.lastname: Takahashi
authors.forename: M
authors.initials: M
authors.lastname: Hoshino
authors.forename: K
authors.initials: K
authors.lastname: Aoki
authors.forename: D
authors.initials: D
authors.lastname: Ayusawa
authors.forename: M
authors.initials: M
authors.lastname: Kawakita
mesh_terms: D000818:Animals; D015139:Blotting, Southern; D002352:Carrier Proteins / Q000235:genetics*; D002478:Cells, Cultured; D002871:Chromosome Banding; D002874:Chromosome Mapping; D005260:Female; D005700:Galactosyltransferases / Q000235:genetics*; D006023:Glycoproteins / Q000096:biosynthesis*; D006031:Glycosylation; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D051379:Mice; D014176:Protein Biosynthesis; D014162:Transfection; D014531:Uridine Diphosphate Galactose / Q000378:metabolism*; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D014960:X Chromosome
chemical_list: D002352:Carrier Proteins; D006023:Glycoproteins; D014531:Uridine Diphosphate Galactose; D005700:Galactosyltransferases