Geisler J G, Stubbs L J, Wasserman W W, Mucenski M L
University of Tennessee Graduate School of Biomedical Sciences, Oak Ridge 37831-8077, USA.
Mamm Genome. 1998 Apr;9(4):274-82. doi: 10.1007/s003359900748.
Because numerous diseases affect the muscle and nervous systems, it is important to identify and characterize genes that may play functional roles in these tissues. Sequence analysis of a 106-kb region of human Chromosome (Chr) 19q13.2 revealed a novel gene with homology to the Neuroendocrine-specific protein (NSP), and it has, therefore, been designated NSP-like 1 (Nspl1). We isolated the mouse homolog of this gene and performed extensive expression analysis of both the mouse and human genes. The mouse Nspl1 gene is alternatively spliced to produce two major transcripts: a 2.1-kb mRNA that is expressed at highest levels in the brain, and a 1.2-kb transcript that is primarily expressed in muscle. The larger message contains 10 exons, whereas the smaller transcript contains 7 exons. The last 6 exons, which are present in both transcripts, share significant amino acid sequence identity with the endoplasmic reticulum-bound portion of NSP. Mouse and human Nspl1/NSPL1 genes have expression patterns that are similar to that of the dystrophin gene. In addition, the putative regulatory domains of Nspl1 appear similar in composition and distribution to the defined dystrophin regulatory sequences.
由于众多疾病会影响肌肉和神经系统，因此识别和鉴定可能在这些组织中发挥功能作用的基因非常重要。对人类19号染色体（Chr）19q13.2区域的106 kb片段进行序列分析，发现了一个与神经内分泌特异性蛋白（NSP）具有同源性的新基因，因此将其命名为NSP样1（Nspl1）。我们分离出了该基因的小鼠同源物，并对小鼠和人类基因进行了广泛的表达分析。小鼠Nspl1基因通过可变剪接产生两种主要转录本：一种2.1 kb的mRNA，在脑中表达水平最高；另一种1.2 kb的转录本，主要在肌肉中表达。较大的转录本包含10个外显子，而较小的转录本包含7个外显子。两种转录本共有的最后6个外显子与NSP的内质网结合部分具有显著的氨基酸序列同一性。小鼠和人类的Nspl1/NSPL1基因具有与肌营养不良蛋白基因相似的表达模式。此外，Nspl1的假定调控域在组成和分布上似乎与已确定的肌营养不良蛋白调控序列相似。
