Relationship between neural crest cell specification and rare ocular diseases

被引：28

作者：

Akula, Monica ^{[1
]}

Park, Jeong Won ^{[1
]}

West-Mays, Judith A. ^{[1
]}

机构：

[1] McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, Canada

来源：

JOURNAL OF NEUROSCIENCE RESEARCH | 2019年 / 97卷 / 01期

基金：

美国国家卫生研究院;

关键词：

animal models; anterior segment dysgenesis; development; genetics; neural crest; ocular disease; AXENFELD-RIEGER SYNDROME; ANTERIOR SEGMENT DEVELOPMENT; TRANSCRIPTION FACTORS; WAARDENBURG-SYNDROME; CHARGE SYNDROME; CONDITIONAL DELETION; EYE DEVELOPMENT; LENS VESICLE; MOUSE MODELS; OPTIC STALK;

D O I：

10.1002/jnr.24245

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Development of the eye is closely associated with neural crest cell migration and specification. Eye development is extremely complex, as it requires the working of a combination of local factors, receptors, inductors, and signaling interactions between tissues such as the optic cup and periocular mesenchyme (POM). The POM is comprised of neural crest-derived mesenchymal progenitor cells that give rise to numerous important ocular structures including those tissues that form the optic cup and anterior segment of the eye. A number of genes are involved in the migration and specification of the POM such as PITX2, PITX3, FOXC1, FOXE3, PAX6, LMX1B, GPR48, TFAP2A, and TFAP2B. In this review, we will discuss the relevance of these genes in the development of the POM and how mutations and defects result in rare ocular diseases.

引用

页码：7 / 15

页数：9

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