Faisst A M, Gruss P
Department of Molecular Cell Biology, Max Planck Institute of Biophysical Chemistry, Göttingen, Germany.
Dev Dyn. 1998 Jun;212(2):293-303. doi: 10.1002/(SICI)1097-0177(199806)212:2<293::AID-AJA14>3.0.CO;2-5.
A gene trap screen designed to isolate novel mouse genes involved in nervous system development was performed. Here, we describe the isolation and characterization of a novel gene, bodenin, which is expressed in restricted areas of the brain. beta-Galactosidase marker gene activity was detected in the embryo at the start of organogenesis (embryonic day 8.5; E8.5). Staining gradually became stronger until E12.5, when embryos exhibited widespread expression. In brains of newborn and adult mice, beta-galactosidase staining was confined predominantly to forebrain structures. Transcriptional activity was also observed in kidney, liver, lung, heart, skeletal muscle, and testes. Part of the trapped gene was isolated by 5'-rapid amplification of cDNA ends (5'-RACE). Isolation and sequencing of the complete cDNA revealed an unknown gene encoding a 200 amino acid protein. Comparison with published sequences showed 94% amino acid identity to a human integrin cytoplasmic domain-associated protein. Mice homozygous for the mutation were viable and did not exhibit any obvious abnormal phenotype. However, concealed phenotypic abnormalities cannot be excluded. The lack of readily visible abnormalities may also be due to functional compensation or to the production of low levels of wild-type protein in mice homozygous for the gene trap vector insertion. Nevertheless, the restricted expression of bodenin in the brain of newborn and adult mice suggests a role for this novel gene in the developing and mature central nervous system.
进行了一项基因捕获筛选,旨在分离参与神经系统发育的新型小鼠基因。在此,我们描述了一个新型基因bodenin的分离和特征,该基因在大脑的特定区域表达。在器官发生开始时(胚胎第8.5天;E8.5)在胚胎中检测到β-半乳糖苷酶标记基因活性。染色逐渐变强,直到E12.5,此时胚胎呈现广泛表达。在新生和成年小鼠的大脑中,β-半乳糖苷酶染色主要局限于前脑结构。在肾脏、肝脏、肺、心脏、骨骼肌和睾丸中也观察到转录活性。通过5'-cDNA末端快速扩增(5'-RACE)分离了部分捕获基因。完整cDNA的分离和测序揭示了一个编码200个氨基酸蛋白质的未知基因。与已发表序列的比较显示与人类整合素细胞质结构域相关蛋白有94%的氨基酸同一性。该突变的纯合小鼠是存活的,并且没有表现出任何明显的异常表型。然而,不能排除隐藏的表型异常。缺乏易于观察到的异常也可能是由于功能补偿或由于在基因捕获载体插入纯合的小鼠中产生低水平的野生型蛋白。尽管如此,bodenin在新生和成年小鼠大脑中的局限性表达表明该新型基因在发育中和成熟的中枢神经系统中起作用。