A hypomorphic cystathionine ß-synthase gene contributes to cavefish eye loss by disrupting optic vasculature

Li Ma, Aniket V. Gore, Daniel Castranova, Janet Shi, Mandy Ng, Kelly A. Tomins, Corine M. Weele, Brant M. Weinstein and William R. Jeffery ()
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Li Ma: University of Maryland
Aniket V. Gore: Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH
Daniel Castranova: Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH
Janet Shi: University of Maryland
Mandy Ng: University of Maryland
Kelly A. Tomins: Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH
Corine M. Weele: University of Maryland
Brant M. Weinstein: Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH
William R. Jeffery: University of Maryland

Nature Communications, 2020, vol. 11, issue 1, 1-15

Abstract: Abstract Vestigial structures are key indicators of evolutionary descent, but the mechanisms underlying their development are poorly understood. This study examines vestigial eye formation in the teleost Astyanax mexicanus, which consists of a sighted surface-dwelling morph and multiple populations of blind cave morphs. Cavefish embryos initially develop eyes, but they subsequently degenerate and become vestigial structures embedded in the head. The mutated genes involved in cavefish vestigial eye formation have not been characterized. Here we identify cystathionine ß-synthase a (cbsa), which encodes the key enzyme of the transsulfuration pathway, as one of the mutated genes responsible for eye degeneration in multiple cavefish populations. The inactivation of cbsa affects eye development by increasing the transsulfuration intermediate homocysteine and inducing defects in optic vasculature, which result in aneurysms and eye hemorrhages. Our findings suggest that localized modifications in the circulatory system may have contributed to the evolution of vestigial eyes in cavefish.

Date: 2020
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DOI: 10.1038/s41467-020-16497-x

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