The hedgehog pathway and ocular developmental anomalies.

Hum Genet

Aix-Marseille Univ, Marseille Medical Genetics (MMG), INSERM, Faculté de Médecine, 27 boulevard Jean Moulin, 13005, Marseille, France.

Published: September 2019

AI Article Synopsis

  • Mutations in the hedgehog signaling pathway can lead to various ocular developmental issues, affecting both brain and eye formation, with some anomalies being severe and incompatible with life, while others cause functional impairments.
  • The review emphasizes the importance of Sonic hedgehog (SHH), the main hedgehog ligand, in the development of eye-related tissues and its indirect effects on eye formation.
  • Additionally, the text discusses unique aspects of the SHH signaling pathway in vertebrates, particularly focusing on how ciliary signal transduction plays a role during the complex processes of eye and brain development.

Article Abstract

Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia, not always compatible with postnatal life, to subtle but damaging functional effects on specific eye components. This review will concentrate on the effects and effectors of the major vertebrate hedgehog ligand for eye and brain formation, Sonic hedgehog (SHH), in tissues that constitute the eye directly and also in those tissues that exert indirect influence on eye formation. After a brief overview of human eye development, the many roles of the SHH signaling pathway during both early and later morphogenetic processes in the brain and then eye and periocular primordia will be evoked. Some of the unique molecular biology of this pathway in vertebrates, particularly ciliary signal transduction, will also be broached within this developmental cellular context.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710239PMC
http://dx.doi.org/10.1007/s00439-018-1918-8DOI Listing

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