Malicki J, Schier A F, Solnica-Krezel L, Stemple D L, Neuhauss S C, Stainier D Y, Abdelilah S, Rangini Z, Zwartkruis F, Driever W
Cardiovascular Research Center, Massachusetts General Hospital, Charlestown 02129, USA.
Development. 1996 Dec;123:275-83. doi: 10.1242/dev.123.1.275.
In a large scale screen for genetic defects in zebrafish embryogenesis we identified mutations affecting several aspects of ear development, including: specification of the otic placode, growth of the otic vesicle (otocyst), otolith formation, morphogenesis of the semicircular canals and differentiation of the otic capsule. Here we report initial phenotypic and genetic characterization of 20 of these mutations defining 13 independent loci. Embryos mutant at the quadro locus display abnormal specification of the otic placode. As revealed by dlx-3 expression, the otic field in the mutant embryos is smaller or split into two fields. At later stages of development the ear of quadro mutants is frequently divided into two smaller, incomplete units. Four loci affect ear shape shortly after formation of the otic vesicle. All of them also display abnormal brain morphology. Mutations in five loci result in the absence of otolith formation; two of these also produce changes of ear morphology. Two loci, little richard and golas, affect morphology of the otic vesicle shortly before formation of the semicircular canals. In both cases the morphogenesis of the semicircular canals is disrupted. Finally, the antytalent locus is involved in late expansion of the ear structure. Analysis of mutations presented here will strengthen our understanding of vertebrate ear morphogenesis and provide novel entry points to its genetic analysis.
在一项针对斑马鱼胚胎发育过程中基因缺陷的大规模筛选中,我们鉴定出了影响耳朵发育多个方面的突变,包括:耳基板的特化、耳泡(听泡)的生长、耳石形成、半规管的形态发生以及耳囊的分化。在此,我们报告了其中20个突变的初步表型和遗传学特征,这些突变定义了13个独立的基因座。quadro基因座突变的胚胎表现出耳基板特化异常。如dlx - 3表达所示,突变胚胎中的耳原基较小或分裂为两个区域。在发育后期,quadro突变体的耳朵常常被分成两个较小的、不完整的单元。四个基因座在耳泡形成后不久影响耳朵形状。它们都还表现出异常的脑形态。五个基因座的突变导致耳石形成缺失;其中两个突变还会引起耳朵形态的改变。两个基因座,little richard和golas,在半规管形成前不久影响耳泡的形态。在这两种情况下,半规管的形态发生都受到破坏。最后,antytalent基因座参与耳朵结构的后期扩展。本文所呈现的突变分析将加深我们对脊椎动物耳朵形态发生的理解,并为其遗传分析提供新的切入点。