Nature Genetics 38, 107 - 111 (2006)
Published online: 11 December 2005; | doi:10.1038/ng1700
Genetic analysis of cavefish reveals molecular convergence in the evolution of albinismMeredith E Protas1, Candace Hersey2, Dawn Kochanek3, Yi Zhou2, Horst Wilkens4, William R Jeffery5, Leonard I Zon2, Richard Borowsky3
& Clifford J Tabin11
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. 2
Children's Hospital Stem Cell Program, Department of Hematology/Oncology, Howard Hughes Medical Institute, Children's Hospital Boston, Boston, Massachusetts 02115, USA. 3
Cave Biology Research Group, Department of Biology, New York University, 1009 Main, 100 Washington Square East, New York, New York 10003, USA. 4
Zoological Institute and Zoological Museum, University of Hamburg, Martin-Luther-King-Platz 3, 20146 Hamburg, Germany. 5
Department of Biology, University of Maryland, College Park, Maryland 20742, USA.
Correspondence should be addressed to Clifford J Tabin tabin@genetics.med.harvard.edu 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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