A human myo-inositol monophosphatase gene (IMPA2) localized in a putative susceptibility region for bipolar disorder on chromosome 18p11.2 : Genomic structure and polymorphism screening in manic-depressive patients

摘要: For several decades, lithium has been the drug of choice in long-term treatment manic-depressive illness, but molecular mechanism(s) mediating its therapeutic effects remain to be determined. The enzyme myo-inositol monophosphatase (IMPase) phospholipase C signaling system is inhibited by at therapeutically relevant concentrations, and a candidate target lithium's mood-stabilizing action. Two genes encoding human IMPases have so far isolated, namely IMPA1 on chromosome 8q21.13–21.3 IMPA2 18p11.2. Interestingly, studies indicated presence susceptibility locus for bipolar disorder therefore genetic both etiology illness. Here we report that genomic structure composed eight exons, ranging size from 46 bp 535 bp. promoter region contains sp1 elements lacks tata-box, features typical housekeeping genes. preliminary polymorphism screening exons 2–8 sample 23 norwegian patients, identified nine single nucleotide polymorphisms (snps). seven were located introns, one was silent transition exon 2 (159t>c) 5 (443g>A) resulting predicted amino acid substitution (R148Q). Our data show even small variants gene can identified. an intriguing future association