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An Update on Connexin Genes and their Nomenclature in Mouse and Man

机译:小鼠和人中连接蛋白基因及其命名的更新

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Gap junctions, composed of connexin protein subunits, allow direct communication through conduits between neighboring cells. Twenty and twenty-one members of the connexin gene family are likely to be expressed in the mouse and human genome, respectively, 19 of which can be grouped into sequence-orthologous pairs. Their gene structure appears to be relatively simple. In most cases, an untranslated exon1 is separated by an intron of different lengh from exon2 that includes the uninterrupted coding region and the 3'-untranslated region. However, there are several exceptions to this scheme, since some mouse connexin genes contain different 5'-untranslated regions spliced either in an alternative and/or consecutive manner. Additionally, in at least 3 mouse and human connexin genes (mCx36, mCx39, mCx57 and hCx31.3, hCx36, as well as hCx40.1) the reading frame is spliced together from 2 different exons. So far, there are two nomenclatures to classify the known connexin genes: The "Gja/Gjb" nomenclature, as it is currently adopted by the NCBI data base, contains some inconsistencies compared to the "Cx" nomenclature. Here we suggest some minor corrections to co-ordinate the "Gja/Gjb" nomenclature with the "Cx" nomenclature. Furthermore, this short review contains an update on phenotypic correlations between connexin deficient mice and patients bearing mutations in their orthologous connexin genes.
机译:由连接蛋白亚基组成的间隙连接允许通过相邻细胞之间的导管直接通讯。连接蛋白基因家族的二十二十个成员和二十一个成员可能分别在小鼠和人类基因组中表达,其中的19个可以分为同源序列对。它们的基因结构似乎相对简单。在大多数情况下,未翻译的外显子1由长度不等的内含子与外显子2隔开,外显子2包括未中断的编码区和3'非翻译区。但是,该方案有几个例外,因为一些小鼠连接蛋白基因包含以交替和/或连续方式剪接的不同的5'非翻译区。此外,在至少3个小鼠和人类连接蛋白基因(mCx36,mCx39,mCx57和hCx31.3,hCx36以及hCx40.1)中,阅读框由2个不同的外显子拼接而成。到目前为止,有两种命名法可以对已知的连接蛋白基因进行分类:NCBI数据库目前采用的“ Gja / Gjb”命名法与“ Cx”命名法相比存在一些不一致之处。在这里,我们建议进行一些较小的更正,以协调“ Gja / Gjb”命名法与“ Cx”命名法。此外,这篇简短的评论还包含连接蛋白缺陷小鼠与直系连接蛋白基因突变患者之间表型相关性的更新。

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