Trends in Genetics
ReviewPax6: more than meets the eye
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Cited by (169)
Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches
2023, Progress in Retinal and Eye ResearchCitation Excerpt :Nonsense-mediated decay is not predicted for C-terminal extension transcripts and the mechanisms of action for this mutation subtype is still unclear (Tzoulaki et al., 2005). By contrast to premature termination codon, most missense variants lead to the production of a full-length PAX6 protein having only a single amino acid substitution in its coding sequence, and they have been associated with both classical aniridia and non-classical phenotypes (Hanson and Van Heyningen, 1995; Tzoulaki et al., 2005). Functional studies of some PAX6 missense variants have shown that the degree of their structural and functional impairment is highly variable, and is dependent on their location within the protein (Gupta et al., 1998; Tang et al., 1997).
Cell fate decisions, transcription factors and signaling during early retinal development
2022, Progress in Retinal and Eye ResearchCitation Excerpt :Mouse Pax6 (Hill et al., 1991) is located on a syntenic region of chromosome 2. Their loci occupy over 400 kbp of genomic DNA and their protein sequences are identical (see Hanson and Van Heyningen, 1995; Shaham et al., 2013; Cvekl and Callaerts, 2017). The major form of Pax6 is a protein with N-terminal PD, comprised of PAI and RED subdomains that independently bind to DNA (Xu et al., 1999a; Epstein et al., 1994a, 1994b), internal HD and C-terminal intrinsically disordered transcriptional activation domain (Fig. 6A,D).
Ocular Surface Biology and Disease in Amphibians
2019, Veterinary Clinics of North America - Exotic Animal PracticeCitation Excerpt :That was not the case a century ago when Warren Harmon Lewis produced a series of articles on the development of the anuran eye,12–14 although his particular interest was the continued ability of the urodele if not the anuran cornea to dedifferentiate into a new lens. Lewis would have been fascinated by what is now known of the remarkable conservation of activity of the pax6 homeobox gene across huge swathes of evolutionary time, with mutations affecting ocular development in species from Drosophila to mammals and humans.15,16 Given this similarity across species, it should not be a surprise that Xenopus pax6 mutants show microphthalmia, aniridia, and cataract.
In silico analysis of Pax6 protein glycosylation in vertebrates
2018, Computational Biology and ChemistryThe Pax6 genes eyeless and twin of eyeless are required for global patterning of the ocular segment in the Tribolium embryo
2014, Developmental BiologyCitation Excerpt :Like most members of the Pax family of transcription factors, the Pax6 gene is deeply conserved and characterized by two DNA binding domains: a paired box-domain (PAX) and a homeodomain (Kessel and Gruss, 1990; Treisman et al., 1991; Walther et al., 1991). Although executing multiple roles during development (Ashery-Padan et al., 2004; Chi and Epstein, 2002; for review see Shaham et al., 2012 and Simpson and Price, 2002), Pax6 has drawn specific attention for its importance in the formation of visual organs (Callaerts et al., 2006; Gehring, 2012; Hanson and Van Heyningen, 1995; Hanson, 2003; Kozmik, 2008; Strickler et al., 2001). Key insights into this pivotal role have been obtained from genetic analyses in model organisms as well as of innate disorders in humans (for review see Callaerts et al., 1997; Shaham et al., 2012).