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DNA Sequence Volume 17, 2006 - Issue 1
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Original

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

Full Length Research Paper

Jin-Hu Guo School of Life Sciences, Fudan University, State Key Laboratory of Genetic Engineering, Handan Road 220, Shanghai, 200433, P.R. China
,
Saiyin Hexige School of Life Sciences, Fudan University, State Key Laboratory of Genetic Engineering, Handan Road 220, Shanghai, 200433, P.R. China
,
Li Chen School of Life Sciences, Fudan University, State Key Laboratory of Genetic Engineering, Handan Road 220, Shanghai, 200433, P.R. China
,
Guang-Jin Zhou School of Life Sciences, Fudan University, State Key Laboratory of Genetic Engineering, Handan Road 220, Shanghai, 200433, P.R. China
,
Xiang Wang School of Life Sciences, Fudan University, State Key Laboratory of Genetic Engineering, Handan Road 220, Shanghai, 200433, P.R. China
,
Jian-Min Jiang Changhai Hospital, Second Military Medical University, Department of Neurology, Shanghai, 200433, P.R. China
,
Ya-Hui Kong School of Life Sciences, Fudan University, State Key Laboratory of Genetic Engineering, Handan Road 220, Shanghai, 200433, P.R. China
,
Guo-Qing Ji School of Life Sciences, Fudan University, State Key Laboratory of Genetic Engineering, Handan Road 220, Shanghai, 200433, P.R. China
,
Chao-Qun Wu School of Life Sciences, Fudan University, State Key Laboratory of Genetic Engineering, Handan Road 220, Shanghai, 200433, P.R. China
,
Shou-Yuan Zhao School of Life Sciences, Fudan University, State Key Laboratory of Genetic Engineering, Handan Road 220, Shanghai, 200433, P.R. China
&
Long Yu School of Life Sciences, Fudan University, State Key Laboratory of Genetic Engineering, Handan Road 220, Shanghai, 200433, P.R. China
 show all
Pages 1-7 | Received 27 Oct 2005, Published online: 11 Jul 2009
 
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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.

Acknowledgements

This work was National Natural Foundation (No. 30170866 and No. 30130100) the Graduate Innovation Foundation of Fudan University (CQH1322014).

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