Molecular cloning of a novel mouse gene with predominant muscle and neural expression

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.