MUTATIONS AT THE MOUSE MICROPHTHALMIA LOCUS ARE ASSOCIATED WITH DEFECTS IN A GENE ENCODING A NOVEL BASIC-HELIX-LOOP-HELIX-ZIPPER PROTEIN
MUTATIONS AT THE MOUSE MICROPHTHALMIA LOCUS ARE ASSOCIATED WITH DEFECTS IN A GENE ENCODING A NOVEL BASIC-HELIX-LOOP-HELIX-ZIPPER PROTEIN
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DOI：
10.1016/0092-8674(93)90429-t
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发表时间：
1993-07-30
期刊：
影响因子：
64.5
通讯作者：
ARNHEITER, H
中科院分区：
文献类型：
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作者：
HODGKINSON, CA;MOORE, KJ;ARNHEITER, H
在小眼症（mi）基因位点发生突变的小鼠具有以下部分或全部缺陷：色素沉着丧失、眼睛变小、继发性骨吸收失败、肥大细胞数量减少和早发性耳聋。使用转基因插入突变在这个位点上，我们已经确定了一个基因，其表达被破坏的转基因动物。该基因编码碱性螺旋环螺旋亮氨酸拉链（bHLH-ZIP）蛋白家族转录因子的新成员，在携带两个独立mi等位基因（mi和mi（ws））的小鼠中发生改变，并在发育中的眼睛，耳朵和皮肤中表达，所有解剖部位均受mi影响。多个自发和诱导突变可在mi提供了一个独特的生物资源，研究的作用bHLH-ZIP蛋白在哺乳动物的发展。
Mice with mutations at the microphthalmia (mi) locus have some or all of the following defects: loss of pigmentation, reduced eye size, failure of secondary bone resorption, reduced numbers of mast cells, and early onset of deafness. Using a transgenic insertional mutation at this locus, we have identified a gene whose expression is disrupted in transgenic animals. This gene encodes a novel member of the basic-helix-loop-helix-leucine zipper (bHLH-ZIP) protein family of transcription factors, is altered in mice carrying two independent mi alleles (mi and mi(ws)), and is expressed in the developing eye, ear, and skin, all anatomical sites affected by mi. The multiple spontaneous and induced mutations available at mi provide a unique biological resource for studying the role of a bHLH-ZIP protein in mammalian development.