Herzog H, Baumgartner M, Vivero C, Selbie L A, Auer B, Shine J
Garvan Institute of Medical Research, St. Vincent's Hospital Darlinghurst, Sydney, New South Wales, Australia.
J Biol Chem. 1993 Mar 25;268(9):6703-7.
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.
已克隆出一段14千碱基对（kb）的基因组DNA区域，该区域编码人类神经肽Y Y1受体基因，包括3'和5'侧翼序列，并且已将该人类基因定位到4号染色体q（31.3 - 32）。与大多数G蛋白偶联受体基因的连续结构不同，NPY Y1受体基因被分为三个外显子。mRNA非翻译区的一个小的5'外显子被一个6 kb的内含子与第二个外显子隔开。受体的编码区在拟议的第五个跨膜结构域之后不久被一个小内含子中断，该内含子包含一个框内终止密码子。在5'侧翼区域，除了一个类TATA序列和一个典型的CAAT框外，还存在一个潜在的cAMP反应元件和一个AP - 2位点。6 kb内含子内的一个单点突变产生了一个PstI多态性位点，在人群中其高信息性等位基因频率为54:46%。
