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Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity.

机译:人类神经毒素基因分析:可变剪接和蛋白质多样性的产生。

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The neurexins are neuronal 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 ( approximately 1.1 Mb) and NRXN3 ( approximately 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. (c)2002 Elsevier Science (USA).
机译:神经毒素是神经元蛋白,在突触形成过程中和细胞间信号传导中起细胞粘附分子的作用。尽管哺乳动物基因组仅包含三个神经毒素基因,但通过使用两个替代启动子并在前mRNA的多达五个不同位置进行选择性剪接,可以表达成千上万的神经毒素同工型。为了开始了解神经调节素基因表达的调控方式,我们确定了所有三个人类神经调节素基因:NRXN1,NRXN2和NRXN3的完整核苷酸序列。出乎意料的是,其中最大的两个人类基因是NRXN1(约1.1 Mb)和NRXN3(约1.7 Mb)。另外,我们已经鉴定了几种保守的内含子序列元件,它们可能参与选择性剪接的调控。这些基因的序列提供了对用于产生神经毒素蛋白同工型多样性的机制的见解,并提出了有关大基因表达机制的几个有趣的问题。 (c)2002 Elsevier Science(美国)。

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