title: Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene and localization distal to MODY on chromosome 20.
abstract: The human PCK1 gene encoding phosphoenolpyruvate carboxykinase (GTP) (PEPCK) was isolated and sequenced. There is 91% amino acid sequence identity (567/622 residues) between the human and the rat proteins, with conservation of intron/exon borders. A polymorphic dinucleotide microsatellite with the structure (CA)16(TA)5(CA) was identified in the 3' untranslated region of the cloned human PCK1 gene. This highly informative genetic marker has an estimated PIC value of 0.79 and heterozygosity of 0.81. Analysis of the RW pedigree demonstrated recombination between PCK1 and the MODY gene on chromosome 20. Multipoint linkage analysis of the reference pedigrees of the Centre d'Etude du Polymorphisme Humain localized PCK1 on the genetic map of chromosome 20 at a position distal to markers that are closely linked to MODY. PCK1 is part of a conserved linkage group on mouse Chromosome 2 with identical gene order but expanded length in the human genome.
authors.affiliation: Department of Human Genetics, University of Michigan, Ann Arbor 48109-0618.
authors.forename: C N
authors.initials: CN
authors.lastname: Ting
authors.forename: D L
authors.initials: DL
authors.lastname: Burgess
authors.forename: J S
authors.initials: JS
authors.lastname: Chamberlain
authors.forename: T P
authors.initials: TP
authors.lastname: Keith
authors.forename: K
authors.initials: K
authors.lastname: Falls
authors.forename: M H
authors.initials: MH
authors.lastname: Meisler
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D003001:Cloning, Molecular; D017124:Conserved Sequence; D004247:DNA; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010729:Phosphoenolpyruvate Carboxykinase (GTP) / Q000235:genetics*; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D017386:Sequence Homology, Amino Acid
chemical_list: D004247:DNA; D010729:Phosphoenolpyruvate Carboxykinase (GTP)