LOCALIZATION OF HUMAN LIVER 6-PHOSPHOFRUCTO-2-KINASE FRUCTOSE-2,6-BISPHOSPHATASE (PFKFB1) WITHIN A YAC CONTIG IN XP11.21/

Phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFK-2/FBPase-2) ca talyzes 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 chr omosome; however, precise localization remained ambiguous, with the ge ne variously placed between Xcen-q13, Xq27-q28, and Xp11.22-p11.21. We have localized the gene within a YAC contig clustered around ALAS2 (h uman erythroid delta-aminolevulinate synthase) in Xp11.21 and have ide ntified eight YACs positive for the gene. Four of these overlapping YA Cs were mapped using rare-cutter restriction enzymes to provide in-dep th 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 appro x. 250 kb) and telomeric to ALAS2. Three putative CpG islands were als o detected in the region. (C) 1997 Academic Press.