Literature DB >> 8401584

Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene.

W Guo1, K Worley, V Adams, J Mason, D Sylvester-Jackson, Y H Zhang, J A Towbin, D D Fogt, S Madu, D A Wheeler.   

Abstract

Rapid genomic scanning methods are required to identify expressed sequences and we report an efficient, sensitive and specific approach which relies upon hybridization of an amplified, labeled cDNA library to digested cosmid DNA. We identified expressed sequences within a cosmid in the glycerol kinase (GK) "critical region" of Xp21 that had impressive similarity to prokaryotic GKs. We used this genomic sequence information to clone the human hepatic GK cDNA. Independent confirmation of the identity of this gene was obtained by functional complementation of GK deficient E. coli mutants with a construct containing the complete human X-linked GK coding sequence.

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Year:  1993        PMID: 8401584     DOI: 10.1038/ng0893-367

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  9 in total

1.  Mutations and phenotype in isolated glycerol kinase deficiency.

Authors:  A P Walker; F Muscatelli; A N Stafford; J Chelly; N Dahl; H K Blomquist; J Delanghe; P J Willems; B Steinmann; A P Monaco
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  DNA variability and recombination rates at X-linked loci in humans.

Authors:  M W Nachman; V L Bauer; S L Crowell; C F Aquadro
Journal:  Genetics       Date:  1998-11       Impact factor: 4.562

3.  Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.

Authors:  C A Sargent; A Kidd; S Moore; J Dean; G T Besley; N A Affara
Journal:  J Med Genet       Date:  2000-06       Impact factor: 6.318

4.  Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.

Authors:  D Gaudet; S Arsenault; L Pérusse; M C Vohl; J St-Pierre; J Bergeron; J P Després; K Dewar; M J Daly; T Hudson; J D Rioux
Journal:  Am J Hum Genet       Date:  2000-03-27       Impact factor: 11.025

Review 5.  Microcompartmentation of energy metabolism at the outer mitochondrial membrane: role in diabetes mellitus and other diseases.

Authors:  E R McCabe
Journal:  J Bioenerg Biomembr       Date:  1994-06       Impact factor: 2.945

6.  Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region.

Authors:  B de Gouyon; A Chatterjee; A Monaco; N Quaderi; S D Brown; G E Herman
Journal:  Mamm Genome       Date:  1996-08       Impact factor: 2.957

Review 7.  Isolated and contiguous glycerol kinase gene disorders: a review.

Authors:  D R Sjarif; J K Ploos van Amstel; M Duran; F A Beemer; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  2000-09       Impact factor: 4.982

8.  Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

Authors:  D R Sjarif; R J Sinke; M Duran; F A Beemer; W J Kleijer; J K Ploos van Amstel; B T Poll-The
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

9.  Conserved family of glycerol kinase loci in Drosophila melanogaster.

Authors:  Julian A Martinez Agosto; Edward R B McCabe
Journal:  Mol Genet Metab       Date:  2006-03-20       Impact factor: 4.797

  9 in total

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