title: Localization of human liver 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFKFB1) within a YAC contig in Xp11.21.
abstract: 6-Phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFK-2/FBPase-2) catalyzes the synthesis and degradation of fructose-2,6-bisphosphate, a potent regulator of glycolysis. Previous studies assigned the gene for human liver PFK-2/FBPase-2 (HGMW-approved symbol PFKFB1) to the X chromosome; however, precise localization remained ambiguous, with the gene variously placed between Xcen-q13, Xq27-q28, and Xp11.22-p11.21. We have localized the gene within a YAC contig clustered around ALAS2 (human erythroid delta-aminolevulinate synthase) in Xp11.21 and have identified eight YACs positive for the gene. Four of these overlapping YACs were mapped using rare-cutter restriction enzymes to provide in-depth characterization of an 820-kb region encompassing the PFK-2/ FBPase-2 and ALAS2 genes. PFK-2/FBPase-2 was found to lie close (within approx. 250 kb) and telomeric to ALAS2. Three putative CpG islands were also detected in the region.
authors.affiliation: Department of Biochemistry, University of Oxford, United Kingdom.
authors.forename: R S
authors.initials: RS
authors.lastname: Batra
authors.forename: E
authors.initials: E
authors.lastname: Hatchwell
authors.forename: S
authors.initials: S
authors.lastname: Rider
authors.forename: R
authors.initials: R
authors.lastname: Brown
authors.forename: G K
authors.initials: GK
authors.lastname: Brown
authors.forename: I W
authors.initials: IW
authors.lastname: Craig
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000235:genetics; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D006801:Humans; D008099:Liver / Q000201:enzymology; D008969:Molecular Sequence Data; D025481:Phosphofructokinase-2; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D015183:Restriction Mapping; D014960:X Chromosome / Q000235:genetics*
chemical_list: D000624:5-Aminolevulinate Synthetase; D017853:Phosphotransferases (Alcohol Group Acceptor); D025481:Phosphofructokinase-2; D010744:Phosphoric Monoester Hydrolases