The cavefish genome reveals candidate genes for eye loss

Suzanne E. McGaugh, Joshua B. Gross, Bronwen Aken, Maryline Blin, Richard Borowsky, Domitille Chalopin, Hélène Hinaux, William R. Jeffery, Alex Keene, Li Ma, Patrick Minx, Daniel Murphy, Kelly E. O'Quin, Sylvie Rétaux, Nicolas Rohner, Steve M.J. Searle, Bethany A. Stahl, Cliff Tabin, Jean Nicolas Volff, Masato YoshizawaWesley C. Warren

Research output: Contribution to journalArticlepeer-review

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Natural populations subjected to strong environmental selection pressures offer a window into the genetic underpinnings of evolutionary change. Cavefish populations, Astyanax mexicanus (Teleostei: Characiphysi), exhibit repeated, independent evolution for a variety of traits including eye degeneration, pigment loss, increased size and number of taste buds and mechanosensory organs, and shifts in many behavioural traits. Surface and cave forms are interfertile making this system amenable to genetic interrogation; however, lack of a reference genome has hampered efforts to identify genes responsible for changes in cave forms of A. mexicanus. Here we present the first de novo genome assembly for Astyanax mexicanus cavefish, contrast repeat elements to other teleost genomes, identify candidate genes underlying quantitative trait loci (QTL), and assay these candidate genes for potential functional and expression differences. We expect the cavefish genome to advance understanding of the evolutionary process, as well as, analogous human disease including retinal dysfunction.

Original languageEnglish (US)
Article number5307
JournalNature communications
StatePublished - Oct 20 2014

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