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An unprocessed pseudogene of inducible nitric oxide synthase gene in human
1Section of Chemical Pharmacology, Laboratory of Molecular Immunology, NHLBI, National Institutes of Health, Bethesda, Maryland 20892, USA. parkshin@dragon.inha.ac.kr
Abstract:
Inducible nitric oxide synthase (iNOS or NOSII) is one of three distinct NOS isoforms in human. The NOSII isoform is expressed in a variety of cells and tissues in response to endotoxins and cytokines. The human genome contains at least two loci for the NOSII gene, one of which (NOSII-1) has previously been assigned to proximal region of the long arm (cen-q11.2 or q11.2-q12) or to pericentric (p11-q11) regions of chromosome 17. The present study, carried out using fluorescence in situ hybridization (FISH) method, shows that a pseudogene gene (NOSII-2) is mapped to chromosome 17q11.2 site. The NOSII-2 sequence contains the exon and intron sequences present in NOSII-1 but with several mutations such as single base substitutions, additions, and deletions. Additionally, the NOSII-2 sequence also contains an incomplete reductase domain which corresponds only to the cofactor binding sites without the oxygenase domain that carry heme and substrate binding sites. NOSII-2, therefore, appears to be an unprocessed pseudogene, which cannot be translated to a functional enzyme because of its incomplete sequences and mutations.