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人类μ阿片受体(OPRM1)剪接变体和多态性变体的生物信息学分析

Bioinformatic analysis of the human mu opioid receptor (OPRM1) splice and polymorphic variants.

作者信息

Xin Lili, Wang Zaijie Jim

机构信息

Department of Biopharmaceutical Sciences, College of Pharmacy, University of Illinois, Chicago, IL 60612, USA.

出版信息

AAPS PharmSci. 2002;4(4):E23. doi: 10.1208/ps040423.

DOI:10.1208/ps040423
PMID:12645995
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2751312/
Abstract

Mu opioid receptor (OPRM1), a member of the G-protein coupled receptor superfamily, mediates the analgesic and euphoric effects of opioid drugs. The sequences of OPRM1 cDNA and reported splice variants were used to search the public and Celera genomic databases. The matched sequences were analyzed to assemble an OPRM1 genomic contig. Human OPRM1 gene was estimated to span at least 90 kb in the chromosome 6q24-25 region. Four coding exons are separated by 3 introns. While intron 2 has only 773 bp, these databases for the first time provide the precise length of and other information about long introns 1 and 3, containing 50 and 27 kb, respectively. When a consensus exon/intron splice junction at the end of the coding exon 3 was not utilized, it may have resulted in continuous translation of the exon to yield the splice variant OPRM1A. The study did not identify human orthologs of other OPRM1 variants that had been reported for mouse OPRM1, although several proposed exons were found to be included in mouse genomic clones. Single nucleotide polymorphisms in the OPRM1 gene were also analyzed and summarized, which could provide potential polymorphic markers for molecular genetic studies.

摘要

μ阿片受体(OPRM1)是G蛋白偶联受体超家族的成员,介导阿片类药物的镇痛和欣快作用。利用OPRM1 cDNA序列和已报道的剪接变体搜索公共和赛雷拉基因组数据库。对匹配序列进行分析以组装OPRM1基因组重叠群。估计人类OPRM1基因在6号染色体q24 - 25区域跨度至少90 kb。四个编码外显子被3个内含子隔开。虽然内含子2只有773 bp,但这些数据库首次提供了分别包含50 kb和27 kb的长内含子1和3的精确长度及其他信息。当编码外显子3末端的共有外显子/内含子剪接连接未被使用时,可能导致外显子的连续翻译,从而产生剪接变体OPRM1A。该研究未鉴定出已报道的小鼠OPRM1的其他OPRM1变体的人类直系同源物,尽管在小鼠基因组克隆中发现了几个提议的外显子。还对OPRM1基因中的单核苷酸多态性进行了分析和总结,可为分子遗传学研究提供潜在的多态性标记。

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