Alternative splicing of hMSH2 in normal human tissues
Alternative splicing of hMSH2 in normal human tissues
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DOI：
10.1007/s004390050411
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发表时间：
1997-05-01
期刊：
影响因子：
5.3
通讯作者：
Horii, A
中科院分区：
文献类型：
--
作者：
Mori, Y;Shiwaku, H;Horii, A
hMSH 2是细菌mutS和酵母Msh 2的同源物，是错配修复基因组的成员，其产物结合双链DNA的错配区域。我们分析了hMSH 2在正常人体器官中的表达，通过聚合酶链反应结合逆转录，发现两种新类型的可变剪接的mRNA在正常人体器官中表达。一个缺失外显子13，另一个缺失从密码子633的第二个核苷酸到密码子719的第二个核苷酸的部分。在后一个转录本中，intro 12以TA开始并以TT（TA-TT内含子）结束，这不符合GT-AG规则。这两种类型的转录导致移码产生截短的hMSH 2蛋白缺乏的高度保守区域的主要部分。选择性剪接的生物学意义仍有待阐明。
hMSH2 is a homolog of bacterial mutS and yeast Msh2, a member of the group of mismatch repair genes whose products bind to mismatched regions of double-stranded DNA. We analyzed expression of hMSH2 in normal human organs by the polymerase chain reaction coupled with reverse transcription and found two novel types of alternatively spliced mRNAs that were expressed in normal human organs. One lacked exon 13, and the other lacked a portion from the second nucleotide of codon 633 to the second nucleotide of codon 719. In the latter transcript, intro 12 started with TA and ended with TT (TA-TT intron) which did not meet the GT-AG rule. Both types of transcript resulted in frameshifts which generated truncated hMSH2 proteins lacking the main part of the highly conserved region. The biological significance of the alternative splicing remains to be elucidated.