PAX6

25th anniversary and more to learn

Ales Cvekl, Patrick Callaerts

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

The DNA-binding transcription factor PAX6 was cloned 25 years ago by multiple teams pursuing identification of human and mouse eye disease causing genes, cloning vertebrate homologues of pattern-forming regulatory genes identified in Drosophila, or abundant eye-specific transcripts. Since its discovery in 1991, genetic, cellular, molecular and evolutionary studies on Pax6 mushroomed in the mid 1990s leading to the transformative thinking regarding the genetic program orchestrating both early and late stages of eye morphogenesis as well as the origin and evolution of diverse visual systems. Since Pax6 is also expressed outside of the eye, namely in the central nervous system and pancreas, a number of important insights into the development and function of these organs have been amassed. In most recent years, genome-wide technologies utilizing massively parallel DNA sequencing have begun to provide unbiased insights into the regulatory hierarchies of specification, determination and differentiation of ocular cells and neurogenesis in general. This review is focused on major advancements in studies on mammalian eye development driven by studies of Pax6 genes in model organisms and future challenges to harness the technology-driven opportunities to reconstruct, step-by-step, the transition from naïve ectoderm, neuroepithelium and periocular mesenchyme/neural crest cells into the three-dimensional architecture of the eye.

Original languageEnglish (US)
JournalExperimental Eye Research
DOIs
StateAccepted/In press - Nov 12 2015

Fingerprint

Anniversaries and Special Events
Technology
High-Throughput Nucleotide Sequencing
Forensic Anthropology
Ectoderm
Eye Diseases
Neural Crest
Neurogenesis
Mesoderm
Regulator Genes
DNA Sequence Analysis
Morphogenesis
Genes
Drosophila
Vertebrates
Organism Cloning
Molecular Biology
Cell Differentiation
Pancreas
Central Nervous System

Keywords

  • Aniridia
  • Chromatin
  • Extracellular matrix
  • Lens
  • PAX6
  • Retina
  • Retinal pigmented epithelium
  • Transcription factors

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

Cite this

PAX6 : 25th anniversary and more to learn. / Cvekl, Ales; Callaerts, Patrick.

In: Experimental Eye Research, 12.11.2015.

Research output: Contribution to journalArticle

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