Savage-Dunn C, Tokarz R, Wang H, Cohen S, Giannikas C, Padgett R W
Department of Biology, City University of New York, Flushing, New York 11367, USA.
Dev Biol. 2000 Jul 1;223(1):70-6. doi: 10.1006/dbio.2000.9713.
A TGFbeta signal transduction cascade controls body size and male tail morphogenesis in the nematode Caenorhabditis elegans. We have analyzed the function of the sma-3 Smad gene, one of three Smad genes that function in this pathway. Null mutations in sma-3 are at least as severe as null mutations in the ligand and type I receptor genes, dbl-1 and sma-6, indicating that the other Smads do not function in the absence of SMA-3. Furthermore, null mutations in sma-3 do not cause defects in egg laying or in regulation of the developmentally arrested dauer larva stage, indicating no overlapping function with another C. elegans TGFbeta signaling pathway. The sma-3 gene is widely expressed at all developmental stages in hermaphrodites and males. The molecular lesions associated with eight sma-3 alleles of varying severity have been determined. The missense mutations cluster in two previously identified regions important for Smad function.
转化生长因子β(TGFβ)信号转导级联反应控制着秀丽隐杆线虫的体型和雄性尾部形态发生。我们分析了sma - 3 Smad基因的功能,该基因是在这一信号通路中发挥作用的三个Smad基因之一。sma - 3基因的无效突变至少与配体基因dbl - 1和I型受体基因sma - 6的无效突变一样严重,这表明在没有SMA - 3的情况下,其他Smad蛋白无法发挥作用。此外,sma - 3基因的无效突变不会导致产卵缺陷或发育停滞的 dauer 幼虫阶段调控异常,这表明其与秀丽隐杆线虫的另一条TGFβ信号通路没有重叠功能。sma - 3基因在雌雄同体和雄性的所有发育阶段均广泛表达。我们已经确定了与八个不同严重程度的sma - 3等位基因相关的分子损伤。错义突变集中在两个先前确定的对Smad功能重要的区域。