van der Keyl H, Kim H, Espey R, Oke C V, Edwards M K
Department of Biology, Haverford College, Pennsylvania 19041.
Dev Dyn. 1994 Sep;201(1):86-94. doi: 10.1002/aja.1002010109.
sqt-3 mutants of Caenorhabditis elegans form dumpy larvae and adults and display allele-specific defects in locomotion, fertility, and viability. We have determined that the sqt-3 locus encodes COL-1 collagen. We physically mapped the col-1 gene to a cosmid on chromosome V whose position is consistent with the location of the sqt-3 gene. We also observed morphological defects in sqt-3 mutants at stages that correlate with the mRNA expression patterns of col-1. Sequence analysis of the col-1 gene in the three temperature-sensitive mutants revealed that each allele of sqt-3 has a unique missense mutation causing arginine or glutamic acid to replace glycine in a Gly-X-Y triple helical domain. These glycine substitutions may result in longer non-collagenous domains, which may decrease the thermal stability or impart additional flexibility to mutant trimers. In addition, we describe four corrections to the published sequence of col-1, including one fifteen nucleotide addition that completes a conserved domain in the amino terminal coding region.
秀丽隐杆线虫的sqt-3突变体形成短粗型幼虫和成虫,并在运动、生育力和生存能力方面表现出等位基因特异性缺陷。我们已经确定sqt-3基因座编码COL-1胶原蛋白。我们将col-1基因物理定位到五号染色体上的一个黏粒,其位置与sqt-3基因的位置一致。我们还在与col-1的mRNA表达模式相关的阶段观察到sqt-3突变体的形态缺陷。对三个温度敏感突变体中的col-1基因进行序列分析发现,sqt-3的每个等位基因都有一个独特的错义突变,导致精氨酸或谷氨酸在Gly-X-Y三螺旋结构域中取代甘氨酸。这些甘氨酸替代可能导致非胶原蛋白结构域更长,这可能会降低热稳定性或赋予突变三聚体额外的柔韧性。此外,我们描述了对已发表的col-1序列的四处修正,包括一处15个核苷酸的添加,该添加完成了氨基末端编码区域中的一个保守结构域。