Literature DB >> 8325643

Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene and localization distal to MODY on chromosome 20.

C N Ting1, D L Burgess, J S Chamberlain, T P Keith, K Falls, M H Meisler.   

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.

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Year:  1993        PMID： 8325643     DOI： 10.1006/geno.1993.1250

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  9 in total

1.  Molecular cloning, sequencing and expression of the cDNA of the mitochondrial form of phosphoenolpyruvate carboxykinase from human liver.

Authors:  S Modaressi; B Christ; J Bratke; S Zahn; T Heise; K Jungermann
Journal:  Biochem J       Date:  1996-05-01       Impact factor: 3.857

2.  Location of the 9257 and ataxia mutations on mouse chromosome 18.

Authors:  A J Griffith; G L Radice; D L Burgess; D C Kohrman; G M Hansen; M J Justice; K R Johnson; M T Davisson; M H Meisler
Journal:  Mamm Genome       Date:  1996-06       Impact factor: 2.957

Review 3.  Disorders of gluconeogenesis.

Authors:  G van den Berghe
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  Identification of an oxygen-responsive element in the 5'-flanking sequence of the rat cytosolic phosphoenolpyruvate carboxykinase-1 gene, modulating its glucagon-dependent activation.

Authors:  J Bratke; T Kietzmann; K Jungermann
Journal:  Biochem J       Date:  1999-05-01       Impact factor: 3.857

5.  Regulation by glucagon (cAMP) and insulin of the promoter of the human phosphoenolpyruvate carboxykinase gene (cytosolic) in cultured rat hepatocytes and in human hepatoblastoma cells.

Authors:  A K Rucktäschel; D K Granner; B Christ
Journal:  Biochem J       Date:  2000-11-15       Impact factor: 3.857

6.  Deleted chromosome 20 from a patient with Alagille syndrome isolated in a cell hybrid through leucine transport selection: study of three candidate genes.

Authors:  J F Deleuze; S Dhorne; J Hazan; E Borghi; N Raynaud; N Pollet; M Meunier-Rotival; J Deschatrette; D Alagille; M Hadchouel
Journal:  Mamm Genome       Date:  1994-11       Impact factor: 2.957

7.  Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. Structure, chromosomal localization and tissue-specific expression.

Authors:  S Modaressi; K Brechtel; B Christ; K Jungermann
Journal:  Biochem J       Date:  1998-07-15       Impact factor: 3.857

8.  Isolation and sequence analysis of cDNAs encoding phosphoenolpyruvate carboxykinase from the PCK-type C4 grass Urochloa panicoides.

Authors:  P M Finnegan; J N Burnell
Journal:  Plant Mol Biol       Date:  1995-01       Impact factor: 4.076

9.  Transcriptome analysis of duck liver and identification of differentially expressed transcripts in response to duck hepatitis A virus genotype C infection.

Authors:  Cheng Tang; Daoliang Lan; Huanrong Zhang; Jing Ma; Hua Yue
Journal:  PLoS One       Date:  2013-07-29       Impact factor: 3.240
  9 in total

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