RT Journal Article
SR Electronic
T1 An epigenetic mechanism for cavefish eye degeneration
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 199018
DO 10.1101/199018
A1 Aniket V. Gore
A1 Kelly A. Tomins
A1 James Iben
A1 Li Ma
A1 Daniel Castranova
A1 Andrew Davis
A1 Amy Parkhurst
A1 William R. Jeffery
A1 Brant M. Weinstein
YR 2017
UL http://biorxiv.org/content/early/2017/10/05/199018.abstract
AB Coding and non-coding mutations in DNA contribute significantly to phenotypic variability during evolution. However, less is known about the role of epigenetics in this process. Although previous studies have identified eye development genes associated with the loss of eyes phenotype in the Pachón blind cave morph of the Mexican tetra Astyanax mexicanus1-6, no inactivating mutations have been found in any of these genes2,3,7-10. Here we show that excess DNA methylation-based epigenetic silencing promotes eye degeneration in blind cave Astyanax mexicanus. By performing parallel analyses in Astyanax mexicanus cave and surface morphs and in the zebrafish Danio rerio, we have discovered that DNA methylation mediates eye-specific gene repression and globally regulates early eye development. The most significantly hypermethylated and down-regulated genes in the cave morph are also linked to human eye disorders, suggesting the function of these genes is conserved across the vertebrates. Our results show that changes in DNA methylation-based gene repression can serve as an important molecular mechanism generating phenotypic diversity during development and evolution.