Analysis of the human neurexin genes: Alternative splicing and the generation of protein diversity
Analysis of the human neurexin genes: Alternative splicing and the generation of protein diversity
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DOI：
10.1006/geno.2002.6734
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发表时间：
2002-04-01
期刊：
影响因子：
4.4
通讯作者：
Graveley, BR
中科院分区：
文献类型：
--
作者：
Rowen, L;Young, J;Graveley, BR
神经毒素是Neuxonal蛋白，在突触发生过程中和细胞间信号传导过程中充当细胞粘附分子。尽管哺乳动物的基因组仅包含三个神经素基因，但可以通过使用两个替代启动子和替代剪接来表达成千上万的神经素同工型，在前MRNA中最多五个不同的位置。为了开始了解神经毒素基因的表达如何受到调节，我们已经确定了所有三种人神经毒素基因的完整核苷酸序列：NRXN1，NRXN2和NRXN3。出乎意料的是，其中两个是NRXN1（类似于1.1 MB）和NRXN3（类似于1.7 Mb），是最大的已知人类基因之一。此外，我们已经确定了几个可能参与替代剪接调节的保守内在序列元素。这些基因的序列提供了有关用于产生神经毒素蛋白质型多样性的机制的洞察力，并提出了有关大基因表达机制的几个有趣的问题。
The neurexins are neuxonal proteins that function as cell adhesion molecules during synaptogenesis and in intercellular signaling. Although mammalian genomes contain only three neurexin genes, thousands of neurexin isoforms may be expressed through the use of two alternative promoters and alternative splicing at up to five different positions in the pre-mRNA. To begin understanding how the expression of the neurexin genes is regulated, we have determined the complete nucleotide sequence of all three human neurexin genes: NRXN1, NRXN2, and NRXN3. Unexpectedly, two of these, NRXN1 (similar to 1.1 Mb) and NRXN3 (similar to 1.7 Mb), are among the largest known human genes. In addition, we have identified several conserved intronic sequence elements that may participate in the regulation of alternative splicing. The sequences of these genes provide insight into the mechanisms used to generate the diversity of neurexin protein isoforms and raise several interesting questions regarding the expression mechanism of large genes.