title: The human galactose-1-phosphate uridyltransferase gene.
abstract: Classical galactosemia is an inborn error of metabolism caused by a deficiency of galactose-1-phosphate uridyltransferase (GALT). Standard treatment with dietary galactose restriction will reverse the potentially lethal symptoms of the disease that are manifest in the newborn period. However, the long-term prognosis for these patients is variable. As a first step toward investigating the molecular basis for phenotypic variation in galactosemia, we have cloned and sequenced the entire gene for human galactose-1-phosphate uridyltransferase. This gene is organized into 11 exons spanning 4 kb. In exons 6, 9, and a portion of 10, there is a high degree of amino acid sequence conservation among Escherichia coli, yeast, mouse, and human. We have identified a number of nucleotide changes in the GALT genes of galactosemic patients that alter conserved amino acids. The most common of these is an A to G transition at nucleotide position 1470, converting a glutamine to an arginine at amino acid codon position 188 (Q188R).(ABSTRACT TRUNCATED AT 250 WORDS)
authors.affiliation: Basic Science Research, Children's Hospital Research Foundation, Cincinnati, Ohio 45229.
authors.forename: N D
authors.initials: ND
authors.lastname: Leslie
authors.forename: E B
authors.initials: EB
authors.lastname: Immerman
authors.forename: J E
authors.initials: JE
authors.lastname: Flach
authors.forename: M
authors.initials: M
authors.lastname: Florez
authors.forename: J L
authors.initials: JL
authors.lastname: Fridovich-Keil
authors.forename: L J
authors.initials: LJ
authors.lastname: Elsas
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002460:Cell Line; D004247:DNA; D005693:Galactosemias / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D017386:Sequence Homology, Amino Acid; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
chemical_list: D004247:DNA; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase