Genomic organization, localization, and allelic differences in the gene for the human neuropeptide Y Y1 receptor

A 14-kilobase pair (kb) region of genomic DNA encoding the human neuropeptide Y Y1-receptor gene including 3'- and 5'-flanking sequences has been cloned and the human gene localized to chromosome 4q(31.3-32). In contrast to the contiguous structure of most G protein-coupled receptor genes, the NPY Y1 receptor gene is divided into three exons. A small 5'-exon of the mRNA untranslated region is separated by a 6-kb intron from the second exon. The coding region of the receptor is interrupted by a small intron, containing an in-frame stop codon, shortly after the proposed fifth transmembrane domain. In the 5'-flanking region a potential cAMP-response element and an AP-2 site, in addition to a TATA-like sequence and a typical CAAT, box are present. A single point mutation within the 6-kb intron generates a PstI polymorphic site with a highly informative allele frequency of 54:46% in the population.