Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye
Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye
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DOI：
10.1073/pnas.161144098
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发表时间：
2001-08-14
影响因子：
11.1
通讯作者：
Hill, RE
中科院分区：
文献类型：
--
作者：
Collinson, JM;Quinn, JC;Hill, RE
我们描述了杂合子小眼小鼠的透镜缺陷，以及Pax 6（+/-）嵌合体发育中的透镜中Pax 6（+/-）细胞的自主缺陷。通过分析嵌合体中杂合细胞的分布，鉴定了透镜的两个单独缺陷：Pax 6（+/-）细胞比野生型更不容易掺入透镜基板中，并且掺入透镜中的那些不能有效地维持在增殖的透镜上皮中。因此，嵌合眼的透镜从胚胎第16.5天起主要是野生型的，而杂合细胞正常地贡献于所有其他眼组织。在胚胎和成年嵌合体中，眼睛的大小以及虹膜和角膜的缺陷可以通过高达80%的突变细胞得到矫正。因此，表型的这些方面可能是透镜中原发性缺陷的继发性后果，其与人无虹膜（PAX 6（+/-））表型具有临床相关性。
We describe lens defects in heterozygous small eye mice, and autonomous deficiencies of Pax6(+/-) cells in the developing lens of Pax6(+/+) Pax6(+/-) chimeras. Two separate defects of the lens were identified by analyzing the distribution of heterozygous cells in chimeras: Pax6(+/-) cells are less readily incorporated into the lens placode than wild type, and those that are incorporated into the lens are not maintained efficiently in the proliferating lens epithelium. The lens of chimeric eyes is, therefore, predominantly wild type from embryonic day 16.5 onwards, whereas heterozygous cells contribute normally to all other eye tissues. Eye size and defects of the iris and cornea are corrected in fetal and adult chimeras with up to 80% mutant cells. Therefore, these aspects of the phenotype may be secondary consequences of primary defects in the lens, which has clinical relevance for the human aniridia (PAX6(+/-)) phenotype.