The HTR1B gene encodes the 5-hydroxytryptamine (5-HT1B) receptor, which is involved in a variety of brain activities and mental disorders. The regulatory effects of non-coding regions on genomic DNA are one of many reasons for the cause of genetic-related diseases. Post-transcriptional regulation that depends on the function of 3′ regulatory regions plays a particularly important role. This study investigated the effects, on reporter gene expression, of several haplotypes of the HTR1B gene (rs6297, rs3827804, rs140792648, rs9361234, rs76194807, rs58138557, and rs13212041) and truncated fragments in order to analyze the function of the 3′ region of HTR1B. We found that the haplotype, A-G-Del-C-T-Ins-A, enhanced the expression level compared to the main haplotype; A-G-Del-C-G-Ins-A; G-G-Del-C-G-Ins-G decreased the expression level. Two alleles, rs76194807T and rs6297G, exhibited different relative luciferase intensities compared to their counterparts at each locus. We also found that + 2440 ~ + 2769 bp and + 1953 ~ + 2311 bp regions both had negative effects on gene expression. The 3′ region of HTR1B has a regulatory effect on gene expression, which is likely closely associated with the interpretation of HTR1B-related disorders. In addition, the HTR1B 3′ region includes several effector binding sites that induce an inhibitory effect on gene expression.

中文翻译：

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HTR1B 3'地区多态性和功能区域对基因表达调控的影响。

HTR1B基因编码5-羟色胺（5-HT1B）受体，该受体参与多种脑活动和精神障碍。非编码区对基因组DNA的调节作用是引起遗传相关疾病的许多原因之一。取决于3'调节区功能的转录后调节起特别重要的作用。这项研究调查了HTR1B基因的几种单倍型（rs6297，rs3827804，rs140792648，rs9361234，rs76194807，rs58138557和rs13212041）和截短片段对报告基因表达的影响，以便分析HTR1B 3'区的功能。我们发现，与主要单体型相比，单体型AG-Del-CT-Ins-A增强了表达水平。AG-Del-CG-Ins-A; GG-Del-CG-Ins-G降低了表达水平。两个等位基因 rs76194807T和rs6297G与每个位点的相对荧光素酶强度相比均不同。我们还发现+ 2440〜+ 2769 bp和+ 1953〜+ 2311 bp区域均对基因表达产生负面影响。HTR1B的3'区域对基因表达具有调节作用，这可能与HTR1B相关疾病的解释密切相关。另外，HTR1B 3'区域包括几个效应子结合位点，其诱导对基因表达的抑制作用。这可能与HTR1B相关疾病的解释密切相关。另外，HTR1B 3'区域包括几个效应子结合位点，其诱导对基因表达的抑制作用。这可能与HTR1B相关疾病的解释密切相关。另外，HTR1B 3'区域包括几个效应子结合位点，其诱导对基因表达的抑制作用。