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Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism

Nature Genetics volume 38, pages 107–111 (2006)Cite this article

Abstract

The genetic basis of vertebrate morphological evolution has traditionally been very difficult to examine in naturally occurring populations. Here we describe the generation of a genome-wide linkage map to allow quantitative trait analysis of evolutionarily derived morphologies in the Mexican cave tetra, a species that has, in a series of independent caves, repeatedly evolved specialized characteristics adapted to a unique and well-studied ecological environment. We focused on the trait of albinism and discovered that it is linked to Oca2, a known pigmentation gene, in two cave populations. We found different deletions in Oca2 in each population and, using a cell-based assay, showed that both cause loss of function of the corresponding protein, OCA2. Thus, the two cave populations evolved albinism independently, through similar mutational events.

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Figure 1: Phenotype and locations of albino cave populations of Astyanax mexicanus.
Figure 2: Microsatellite linkage map of Astyanax mexicanus.
Figure 3: Oca2 is linked to albinism in both the Pachón and Molino cave populations.
Figure 4: Different Oca2 exon deletions in the Molino population and the Pachón population cause loss of function of the OCA2 protein.

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Acknowledgements

This work was supported by US National Science Foundation grant IBN0217178 to R. Borowsky and C.J. Tabin. The authors thank L. Mekios for phenotyping and fish maintenance, the Bennett group for the use of the melan-p cell line, T. Matsuda for the pUB-GFP construct, R.C. Albertson for critical reading of the manuscript, and C. Peichel, R.V. Pearse II, J.L. Galloway and J. Rivera-Feliciano for help and advice.

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Authors and Affiliations

  1. Department of Genetics, Harvard Medical School, Boston, 02115, Massachusetts, USA

    Meredith E Protas & Clifford J Tabin

  2. Department of Hematology/Oncology, Children's Hospital Stem Cell Program, Howard Hughes Medical Institute, Children's Hospital Boston, Boston, 02115, Massachusetts, USA

    Candace Hersey, Yi Zhou & Leonard I Zon

  3. Department of Biology, Cave Biology Research Group, New York University, 1009 Main, 100 Washington Square East, New York, 10003, New York, USA

    Dawn Kochanek & Richard Borowsky

  4. Zoological Institute and Zoological Museum, University of Hamburg, Martin-Luther-King-Platz 3, Hamburg, 20146, Germany

    Horst Wilkens

  5. Department of Biology, University of Maryland, College Park, 20742, Maryland, USA

    William R Jeffery

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  1. Meredith E Protas
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  2. Candace Hersey
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  4. Yi Zhou
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  6. William R Jeffery
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Correspondence to Clifford J Tabin.

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Supplementary information

Supplementary Fig. 1

Amino acid sequence of Oca2 from surface, Molino, and Pachón populations. (PDF 1747 kb)

Supplementary Fig. 2

Missing exons in Pachón and Molino Oca2 coding sequence are genomic deletions and not splice variants. (PDF 554 kb)

Supplementary Table 1

Microsatellite markers and primer sequences. (PDF 53 kb)

Supplementary Table 2

Polymorphisms in the Japonés, Pachón, and Molino populations. (PDF 27 kb)

Supplementary Methods (PDF 29 kb)

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Protas, M., Hersey, C., Kochanek, D. et al. Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism. Nat Genet 38, 107–111 (2006). https://doi.org/10.1038/ng1700

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