Isolation and characterization of the human D-glyceric acidemia related glycerate kinase gene GLYCTK1 and its alternatively splicing variant GLYCTK2.

Abstract

Deficiency of human glycerate kinase leads to D-glycerate acidemia/D-glyceric aciduria. Through PCR cloning assisted by in silico approach, we isolated the human glycerate kinase genes--Glycerate Kinase 1 (GLYCTK1) and its alternatively splicing variant--Glycerate Kinase 2 (GLYCTK2), which might be associated with D-glycerate acidemia/D-glyceric aciduria. The locus of GLYCTK gene is mapped to 3p21. PCR amplification in seventeen human tissue cDNAs revealed that both GLYCTK1 and GLYCTK2 are expressed widely almost in all these tissues. The expression of mouse Glyctk in various tissues was demonstrated by in situ hybridization. Both GLYCTK1 and GLYCTK2 proteins are localized in cytosol, and GLYCTK2 proteins are specifically localized in mitochondria. Present results revealed the characteristic expression pattern of murine Glyctk in neural system, skeleton muscle, supporting that glycerate kinase is implicated in D-glycerate acidemia/D-glyceric aciduria.

• Authors: Jin-Hu Guo, Saiyin Hexige, Li Chen, Guang-Jin Zhou, Xiang Wang, Jian-Min Jiang, Ya-Hui Kong, Guo-Qing Ji, Chao-Qun Wu, Shou-Yuan Zhao, Long Yu
• Journal: DNA sequence : the journal of DNA sequencing and mapping (DNA Seq) Vol. 17 Issue 1 Pg. 1-7 (Feb 2006) ISSN: 1042-5179 [Print] England
• PMID: 16753811 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Complementary
• Glyceric Acids
• Protein Isoforms
• Recombinant Fusion Proteins
• glyceric acid
• Phosphotransferases (Alcohol Group Acceptor)
• glycerate kinase

Topics

• Alternative Splicing
• Animals
• Base Sequence
• COS Cells
• Chlorocebus aethiops
• DNA, Complementary (isolation & purification)
• Genetic Variation
• Glyceric Acids (blood)
• Humans
• In Situ Hybridization
• In Situ Hybridization, Fluorescence
• Mice
• Molecular Sequence Data
• Phosphotransferases (Alcohol Group Acceptor) (deficiency, genetics)
• Protein Isoforms (genetics)
• Recombinant Fusion Proteins (analysis)
• Reverse Transcriptase Polymerase Chain Reaction
• Tissue Distribution (genetics)