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.
Herzog
H
H
Garvan Institute of Medical Research, St. Vincent's Hospital Darlinghurst, Sydney, New South Wales, Australia.
Baumgartner
M
M
Vivero
C
C
Selbie
L A
LA
Auer
B
B
Shine
J
J
D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D015139:Blotting, Southern; D002478:Cells, Cultured; D002894:Chromosomes, Human, Pair 4; D003001:Cloning, Molecular; D004247:DNA; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005091:Exons; D005786:Gene Expression Regulation; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns; D008969:Molecular Sequence Data; D012150:Polymorphism, Restriction Fragment Length; D017476:Receptors, Neuropeptide Y / Q000235:genetics*; D015183:Restriction Mapping; D014158:Transcription, Genetic
D017476:Receptors, Neuropeptide Y; D004247:DNA; C024388:CTGCAG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific