Batterham P, Crew J R, Sokac A M, Andrews J R, Pasquini G M, Davies A G, Stocker R F, Pollock J A
University of Melbourne, Parkville, Victoria, Australia.
J Neurogenet. 1996 Sep;10(4):193-220. doi: 10.3109/01677069609083463.
Mutations at the lozenge (lz) locus are pleiotropic, primarily affecting the sense organs for sight, smell and taste. To better understand the role that lz plays in the visual system, we investigated its complex genetics and the effect mutations have on the structure of the compound eye. Complementation analysis within the lz locus reveals two functional units necessary for a normal eye, cistrons A and B. Previous recombination studies identified four subloci spanning 0.14 m.u. Cistron A mutations map to the distal-most spectacle sub-locus, which has been identified as an insertion point for P-elements. Southern blotting and chromosomal in situ hybridization show that P-allele lzmu2 contains a single P-element; a cosmid clone derived from lzmu2 confirms that the P-element is defective. Mutants of both cistrons perturb lens structure and eye pigmentation. However, the extent of the defects differs between the most severe mutations of the two cistrons. Within the eye, failure to form the fenestrated membrane permits photoreceptor neurons to "fall" into the brain disrupting neural structure. Our analysis shows that lz exerts control over the identity of cone cells, pigment cells and photoreceptor neurons.
菱形(lz)基因座的突变具有多效性,主要影响视觉、嗅觉和味觉的感觉器官。为了更好地理解lz在视觉系统中的作用,我们研究了其复杂的遗传学以及突变对复眼结构的影响。lz基因座内的互补分析揭示了正常眼睛所需的两个功能单位,即顺反子A和B。先前的重组研究确定了跨越0.14个图距单位的四个亚基因座。顺反子A突变定位于最远端的眼镜亚基因座,该亚基因座已被确定为P因子的插入点。Southern印迹和染色体原位杂交表明,P等位基因lzmu2包含一个单一的P因子;来自lzmu2的黏粒克隆证实该P因子有缺陷。两个顺反子的突变均扰乱晶状体结构和眼色素沉着。然而,两个顺反子最严重突变之间的缺陷程度有所不同。在眼睛内部,未能形成有孔膜会使光感受器神经元“落入”大脑,从而破坏神经结构。我们的分析表明,lz对锥体细胞、色素细胞和光感受器神经元的特性发挥控制作用。