MOUSE SMALL EYE RESULTS FROM MUTATIONS IN A PAIRED-LIKE HOMEOBOX-CONTAINING GENE
MOUSE SMALL EYE RESULTS FROM MUTATIONS IN A PAIRED-LIKE HOMEOBOX-CONTAINING GENE
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DOI：
10.1038/354522a0
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发表时间：
1991-12-19
期刊：
影响因子：
64.8
通讯作者：
VANHEYNINGEN, V
中科院分区：
文献类型：
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作者：
HILL, RE;FAVOR, J;VANHEYNINGEN, V
小鼠小眼（Sey）是一种半显性突变，在纯合条件下导致眼睛和鼻原基完全缺失。基于比较定位研究和表型相似性，Sey被认为与人类先天性无虹膜（虹膜缺失）同源1，2。 通过定位克隆3分离了11 p13处无虹膜（AN）基因座的候选基因，并确定了其序列和小鼠同源物的序列（C.T.，手稿正在准备中）。该基因属于在果蝇中首次描述的发育基因的配对样类，其包含两个高度保守的基序，配对框和同源框4，5。 在脊椎动物中，编码单个配对结构域的基因以及表达两种基序的基因被描述为Pax多基因家族6-10。 最近描述为Pax-6 11，12的Pax基因与候选无虹膜基因的小鼠同源物相同。在这里，我们报告的三个独立的Sey等位基因的分析，并表明，确实这个基因是突变的，突变将可预见地中断基因功能。
SMALL eye (Sey) in mouse is a semidominant mutation which in the homozygous condition results in the complete lack of eyes and nasal primordia. On the basis of comparative mapping studies and on phenotypic similarities, Sey bas been suggested to be homologous to congenital aniridia (lack of iris) in human 1,2. A candidate gene for the aniridia (AN) locus at 11p13 bas been isolated by positional cloning 3 and its sequence and that of the mouse homologue has been established (C.T., manuscript in preparation). This gene belongs to the paired-like class of developmental genes first described in Drosophila which contain two highly conserved motifs, the paired box and the homeobox 4,5. In vertebrates, genes which encode the single paired domain as well as those which express both motifs have been described as the Pax multigene family 6-10. A Pax gene recently described as Pax-6 11,12 is identical to the mouse homologue of the candidate aniridia gene. Here we report the analysis of three independent Sey alleles and show that indeed this gene is mutated and that the mutations would predictably interrupt gene function.