These demarcate the future vesicles that will emerge toward the ectoderm over the next few days. ( 2016)Īs the rostral prosencephalon bulges and initially splays at GD22, bilateral pits emerge on each side midway between the neural fold and floor plate, at an equivalent distance from the edge of the anterior neural fold (Cook et al. OTX2, SOX2, STRA6, VAX1, VSX2, RAX, PTCH1, ALDH1A3, RARB, GJA3… also see CCRK above Retinitis pigmentosa, retinal dystrophy, colobomaīielas et al. ( 2002) Hayhurst and McConnell ( 2003) Schimmenti et al.
( 1996) Wallis and Muenke ( 2000) Ming et al. SHH, PTCH1, CDON, DISP1, GAS1, GLI2, BOC, ( LRP2)īelloni et al. ( 2015)Īnophthalmia, micro/anophthalmia, cyclopia, synophthalmia, microphthalmia, hypotelorism, coloboma Hypertelorism (one report of keratoconus) Large ocular globes (high myopia), coloboma ( 2017)Ĭongenital glaucoma and corneal dysgenesisĬYP1B1, LTBP2, TEK, MYOC, SLC4A11, ADAM9, CPAMD8 Myelinated fibers, optic nerve anomaly, epiretinal membrane, unilateral microphthalmia with cyst Myopia, microcornea, iris hypoplasia, corectopia, polycoria
Gene(s) and/or Shh dosage-sensitive cell typesĪniridia, cataract with late-onset corneal dystrophy 2006 Cvekl and Duncan 2007) as such, these may also account for some of the complex genetics behind human eye malformations. Non-coding, cis-regulatory elements control when and where not only the ligands, but also the effectors and potential downstream targets may be deployed (Jeong et al. The hedgehog pathway, impinging on similarly conserved/diversified transcriptional gene regulation networks, has been co-opted during the evolution of numerous complex organ systems in the vertebrate clade, particularly the eye (Nilsson 2004 Meulemans and Bronner-Fraser 2005). They have been doing so over the last 940 million years (Nikoh et al. Hedgehog signaling pathways are now known to regulate many fundamental cellular processes of patterning, cell identity, and environmental responsiveness in all Eumetazoa (Matus et al.
As the corresponding genes were identified and characterized, it turned out that in all vertebrates including humans, hh ligand and Ci transcription factor orthologs, as well as dozens of intermediate effectors, are functionally conserved in many ways and have diversified in others. The first description presciently grouped the “hedgehog” ( hh) and “cubitus interruptus” ( Ci) mutants among those affecting this segmental polarity pattern (Nüsslein-Volhard and Wieschaus 1980). The hedgehog signaling pathway was named after the denticle phenotype of larval Drosophila fruit fly mutants, in which the alternating pattern of abdominal bristles and naked cuticle was replaced by a stubby and uniformly fuzzy appearance.
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