Koh Kyunghee, Bernstein Yelena, Sundaram Meera V
Department of Genetics, School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Dev Biol. 2004 Mar 1;267(1):252-63. doi: 10.1016/j.ydbio.2003.11.014.
egl-18 and elt-6 are partially redundant, adjacent genes encoding GATA factors essential for viability, seam cell development, and vulval development in Caenorhabditis elegans. The nT1 reciprocal translocation causes a strong Vulvaless phenotype, and an nT1 breakpoint was previously mapped to the left arm of LGIV, where egl-18/elt-6 are located. Here we present evidence that the nT1 vulval phenotype is due to a disruption of egl-18/elt-6 function specifically in the vulva. egl-18 mutations do not complement nT1 for vulval defects, and the nT1 breakpoint on LGIV is located within approximately 800 bp upstream of a potential transcriptional start site of egl-18. In addition, we have identified a approximately 350-bp cis-regulatory region sufficient for vulval expression just upstream of the nT1 breakpoint. By examining the fusion state and division patterns of the cells in the developing vulva of nT1 mutants, we demonstrate that egl-18/elt-6 prevent fusion and promote cell proliferation at multiple steps of vulval development.
egl-18和elt-6是部分冗余的相邻基因，它们编码对秀丽隐杆线虫的生存能力、体壁细胞发育和外阴发育至关重要的GATA因子。nT1相互易位导致强烈的无外阴表型，并且先前已将nT1断点定位到LGIV的左臂，egl-18/elt-6位于该位置。在这里，我们提供证据表明nT1外阴表型是由于egl-18/elt-6功能在外阴中特异性破坏所致。egl-18突变不能弥补nT1的外阴缺陷，并且LGIV上的nT1断点位于egl-18潜在转录起始位点上游约800 bp内。此外，我们在nT1断点上游鉴定了一个约350 bp的顺式调控区域，该区域足以实现外阴表达。通过检查nT1突变体发育中的外阴细胞的融合状态和分裂模式，我们证明egl-18/elt-6在多个外阴发育步骤中阻止融合并促进细胞增殖。
