Kingsley D M, Rinchik E M, Russell L B, Ottiger H P, Sutcliffe J G, Copeland N G, Jenkins N A
Mammalian Genetics Laboratory, NCI-Frederick Cancer Research Facility, MD 21701.
EMBO J. 1990 Feb;9(2):395-9. doi: 10.1002/j.1460-2075.1990.tb08123.x.
The 1B1075 gene was initially identified from a cDNA clone of a rat brain messenger RNA expressed in particular subsets of CNS neurons and pituitary cells. Although the protein encoded by this gene is of unknown function, its sequence suggests that it may be related to secretogranin proteins, which are found in association with secretory granules in a variety of peptidergic endocrine and neuronal cells. Here we show that the mouse 1B1075 gene is located between the dilute (d) and short ear (se) genes on chromosome 9. Many different deletion mutations have previously been isolated in the genetic region that includes these genes. By producing mice carrying two deletions that overlap at the 1B1075 locus, the gene for this brain-specific message can be completely eliminated from otherwise viable animals. The animals missing the 1B1075 gene provide an important new tool for determining the function of this gene in the brain. In addition, these results provide a new molecular entry point for detailed characterization of other genes in the d-se region.
1B1075基因最初是从在中枢神经系统（CNS）神经元和垂体细胞的特定亚群中表达的大鼠脑信使RNA的cDNA克隆中鉴定出来的。尽管该基因编码的蛋白质功能未知，但其序列表明它可能与分泌粒蛋白相关，这些蛋白在多种肽能内分泌和神经细胞中与分泌颗粒相关联。在这里，我们表明小鼠1B1075基因位于9号染色体上的稀释（d）基因和短耳（se）基因之间。以前在包括这些基因的遗传区域中分离出了许多不同的缺失突变。通过产生在1B1075基因座处重叠的两个缺失的小鼠，可以从其他方面存活的动物中完全消除这个脑特异性信息的基因。缺失1B1075基因的动物为确定该基因在脑中的功能提供了一个重要的新工具。此外，这些结果为详细表征d-se区域中的其他基因提供了一个新的分子切入点。
