Genetics Underlying the Interactions between Neural Crest Cells and Eye Development

The neural crest is a unique, transient stem cell population that is critical for craniofacial and ocular development. Understanding the genetics underlying the steps of neural crest development is essential for gaining insight into the pathogenesis of congenital eye diseases. The neural crest cells...

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Main Authors: Jochen Weigele, Brenda L. Bohnsack
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:Journal of Developmental Biology
Subjects:
Online Access:https://www.mdpi.com/2221-3759/8/4/26
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author Jochen Weigele
Brenda L. Bohnsack
author_facet Jochen Weigele
Brenda L. Bohnsack
author_sort Jochen Weigele
collection DOAJ
description The neural crest is a unique, transient stem cell population that is critical for craniofacial and ocular development. Understanding the genetics underlying the steps of neural crest development is essential for gaining insight into the pathogenesis of congenital eye diseases. The neural crest cells play an under-appreciated key role in patterning the neural epithelial-derived optic cup. These interactions between neural crest cells within the periocular mesenchyme and the optic cup, while not well-studied, are critical for optic cup morphogenesis and ocular fissure closure. As a result, microphthalmia and coloboma are common phenotypes in human disease and animal models in which neural crest cell specification and early migration are disrupted. In addition, neural crest cells directly contribute to numerous ocular structures including the cornea, iris, sclera, ciliary body, trabecular meshwork, and aqueous outflow tracts. Defects in later neural crest cell migration and differentiation cause a constellation of well-recognized ocular anterior segment anomalies such as Axenfeld–Rieger Syndrome and Peters Anomaly. This review will focus on the genetics of the neural crest cells within the context of how these complex processes specifically affect overall ocular development and can lead to congenital eye diseases.
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spelling doaj.art-86434ccfabbc4de295f8ad455d3955682023-11-20T20:27:21ZengMDPI AGJournal of Developmental Biology2221-37592020-11-01842610.3390/jdb8040026Genetics Underlying the Interactions between Neural Crest Cells and Eye DevelopmentJochen Weigele0Brenda L. Bohnsack1Division of Ophthalmology, Ann & Robert H. Lurie Children’s Hospital of Chicago, 225 E. Chicago Ave, Chicago, IL 60611, USADivision of Ophthalmology, Ann & Robert H. Lurie Children’s Hospital of Chicago, 225 E. Chicago Ave, Chicago, IL 60611, USAThe neural crest is a unique, transient stem cell population that is critical for craniofacial and ocular development. Understanding the genetics underlying the steps of neural crest development is essential for gaining insight into the pathogenesis of congenital eye diseases. The neural crest cells play an under-appreciated key role in patterning the neural epithelial-derived optic cup. These interactions between neural crest cells within the periocular mesenchyme and the optic cup, while not well-studied, are critical for optic cup morphogenesis and ocular fissure closure. As a result, microphthalmia and coloboma are common phenotypes in human disease and animal models in which neural crest cell specification and early migration are disrupted. In addition, neural crest cells directly contribute to numerous ocular structures including the cornea, iris, sclera, ciliary body, trabecular meshwork, and aqueous outflow tracts. Defects in later neural crest cell migration and differentiation cause a constellation of well-recognized ocular anterior segment anomalies such as Axenfeld–Rieger Syndrome and Peters Anomaly. This review will focus on the genetics of the neural crest cells within the context of how these complex processes specifically affect overall ocular development and can lead to congenital eye diseases.https://www.mdpi.com/2221-3759/8/4/26neural crestoptic cupcolobomamicrophthalmiaAxenfeld-Rieger SyndromePeters Anomaly
spellingShingle Jochen Weigele
Brenda L. Bohnsack
Genetics Underlying the Interactions between Neural Crest Cells and Eye Development
Journal of Developmental Biology
neural crest
optic cup
coloboma
microphthalmia
Axenfeld-Rieger Syndrome
Peters Anomaly
title Genetics Underlying the Interactions between Neural Crest Cells and Eye Development
title_full Genetics Underlying the Interactions between Neural Crest Cells and Eye Development
title_fullStr Genetics Underlying the Interactions between Neural Crest Cells and Eye Development
title_full_unstemmed Genetics Underlying the Interactions between Neural Crest Cells and Eye Development
title_short Genetics Underlying the Interactions between Neural Crest Cells and Eye Development
title_sort genetics underlying the interactions between neural crest cells and eye development
topic neural crest
optic cup
coloboma
microphthalmia
Axenfeld-Rieger Syndrome
Peters Anomaly
url https://www.mdpi.com/2221-3759/8/4/26
work_keys_str_mv AT jochenweigele geneticsunderlyingtheinteractionsbetweenneuralcrestcellsandeyedevelopment
AT brendalbohnsack geneticsunderlyingtheinteractionsbetweenneuralcrestcellsandeyedevelopment