Levy F O, Holtgreve-Grez H, Taskén K, Solberg R, Ried T, Gudermann T
Institute of Medical Biochemistry, University of Oslo.
Genomics. 1994 Aug;22(3):637-40. doi: 10.1006/geno.1994.1439.
The human gene for the 5-HT1E serotonin receptor was recently cloned, but no chromosomal assignment has yet been given to this gene (locus HTR1E). In this work, we demonstrate by two independent polymerase chain reactions on a panel of human-hamster somatic cell hybrid genomic DNA that the 5-HT1E serotonin receptor gene is localized on human chromosome 6. Furthermore, by means of in situ hybridization to human metaphase chromosomes, using the cloned 5-HT1E receptor gene (phage clone lambda-S31; Levy et al., FEBS Lett. 296:201-206,1992) as was a probe, we demonstrate that this gene is localized to the q14-q15 region on chromosome 6. Screening of genomic DNA from 15 unrelated Caucasian individuals, using as a probe the open reading frame of the cloned 5-HT1E receptor gene, did not reveal any restriction fragment length polymorphisms with the enzymes BamHI, BanII, BglII, EcoRI, HincII, HindIII, HinfI, MspI, PstI, and PvuII. Since the 5-HT1E receptor is found mainly in the cerebral cortex and abnormal function of the serotonergic system has been implicated in a variety of neurologic and psychiatric diseases, the precise chromosomal assignment of the 5-HT1E receptor gene is the crucial first step toward the evaluation of this locus as a candidate for mutations in such syndromes.
人类5-HT1E血清素受体基因最近已被克隆，但该基因（基因座HTR1E）尚未进行染色体定位。在这项研究中，我们通过对一组人-仓鼠体细胞杂交基因组DNA进行两次独立的聚合酶链反应证明，5-HT1E血清素受体基因定位于人类6号染色体上。此外，通过使用克隆的5-HT1E受体基因（噬菌体克隆λ-S31；Levy等人，《欧洲生物化学学会联合会快报》296:201-206，1992）作为探针与人中期染色体进行原位杂交，我们证明该基因定位于6号染色体的q14-q15区域。使用克隆的5-HT1E受体基因的开放阅读框作为探针，对15名无关的高加索个体的基因组DNA进行筛选，未发现用BamHI、BanII、BglII、EcoRI、HincII、HindIII、HinfI、MspI、PstI和PvuII酶切时的任何限制性片段长度多态性。由于5-HT1E受体主要存在于大脑皮层，且血清素能系统的异常功能与多种神经和精神疾病有关，因此5-HT1E受体基因的精确染色体定位是将该基因座评估为这些综合征突变候选基因的关键第一步。
