Isolation and characterization of the human D-glyceric acidemia related glycerate kinase gene GLYCTK1 and its alternatively splicing variant GLYCTK2.
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.
Guo
Jin-Hu
JH
State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Handan Road 220, Shanghai, 200433, P.R. China.
Hexige
Saiyin
S
Chen
Li
L
Zhou
Guang-Jin
GJ
Wang
Xiang
X
Jiang
Jian-Min
JM
Kong
Ya-Hui
YH
Ji
Guo-Qing
GQ
Wu
Chao-Qun
CQ
Zhao
Shou-Yuan
SY
Yu
Long
L
D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D019556:COS Cells; D002522:Chlorocebus aethiops; D018076:DNA, Complementary / Q000302:isolation & purification; D014644:Genetic Variation; D005988:Glyceric Acids / Q000097:blood*; D006801:Humans; D017403:In Situ Hybridization; D017404:In Situ Hybridization, Fluorescence; D051379:Mice; D008969:Molecular Sequence Data; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics*; D011993:Recombinant Fusion Proteins / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014018:Tissue Distribution / Q000235:genetics
D018076:DNA, Complementary; D005988:Glyceric Acids; D020033:Protein Isoforms; D011993:Recombinant Fusion Proteins; C042971:glyceric acid; D017853:Phosphotransferases (Alcohol Group Acceptor); C020670:glycerate kinase