The Hedgehog Pathway and Ocular Developmental Anomalies

Hum Genet. 2019 Sep;138(8-9):917-936. doi: 10.1007/s00439-018-1918-8. Epub 2018 Aug 2.

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.

Publication types

  • Review

MeSH terms

  • Animals
  • Eye / metabolism*
  • Gene Expression Regulation, Developmental / genetics
  • Hedgehog Proteins / genetics*
  • Humans
  • Signal Transduction / genetics*

Substances

  • Hedgehog Proteins