Cloning and mutations analysis of the human potassium channel KCNQ2 gene promoter

Benign familial neonatal convulsions (BFNC) have been previously found to b e associated with mutations within the coding region of KCNQ2. We have now cloned and analyzed the promoter region of the human KCNQ2 gene. 5'-RACE id entified a transcription start site (TSS) located 200 bp upstream of the AT G start codon. The TSS is located close to a repetitive region containing s even copies of a degenerate 42-mer repeat. Several different luciferase (LU C) reporter plasmids containing fragments from the KCNQ2 5'-flanking region were constructed and expressed in NT2N and SH-SY5Y cell lines. A core prom oter region was found to be located between bp 20 and bp 74 upstream of the TSS. Neither the promoter region nor the repetitive region showed any muta tions in 13 index patients from unrelated BFNC families. NeuroReport 12:373 3-3739 (C) 2001 Lippincott Williams & Wilkins.