人mu阿片受体(OPRM1)剪接和多态性变异的生物信息学分析。

AAPS PharmSci Pub Date : 2002-01-01 DOI:10.1208/ps040423
Lili Xin, Zaijie Jim Wang
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引用次数: 17

摘要

阿片受体(Mu opioid receptor, OPRM1)是g蛋白偶联受体超家族的成员,参与阿片药物的镇痛和欣快作用。OPRM1 cDNA序列和已报道的剪接变异体被用于检索公共和Celera基因组数据库。对匹配序列进行分析,组装一个OPRM1基因组序列。据估计,人类OPRM1基因在染色体6q24-25区长度至少为90kb。4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长内含子1和3的精确长度和其他信息,分别包含50和27 kb。当编码外显子3末端的一致外显子/内含子剪接连接未被利用时,可能导致外显子的连续翻译产生剪接变体OPRM1A。尽管在小鼠基因组克隆中发现了几个被提议的外显子,但该研究没有发现其他OPRM1变异的人类同源物,这些变异已被报道为小鼠OPRM1。分析总结了OPRM1基因的单核苷酸多态性,为分子遗传学研究提供了潜在的多态性标记。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Bioinformatic analysis of the human mu opioid receptor (OPRM1) splice and polymorphic variants.

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.

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