Chapter 8. Evolution and development in the cavefish Astyanax

The teleost Astyanax mexicanus is a single species consisting of two radically different forms: a sighted pigmented surface-dwelling form (surface fish) and a blind depigmented cave-dwelling form (cavefish). The two forms of Astyanax have favorable attributes, including descent from a common ancestor, ease of laboratory culture, and the ability to perform genetic analysis, permitting their use as a model system to explore questions in evolution and development. Here, we review current research on the molecular, cellular, and developmental mechanisms underlying the loss of eyes and pigmentation in Astyanax cavefish. Although functional eyes are lacking in adults, cavefish embryos begin to develop eye primordia, which subsequently degenerate. The major cause of eye degeneration appears to be apoptotic cell death of the lens, which prevents the growth of other optic tissues, including the retina. Ultimately, the loss of the eye is the cause of craniofacial differences between cavefish and surface fish. Lens apoptosis is induced by enhanced activity of the Hedgehog signaling system along the cavefish embryonic midline. The absence of melanin pigmentation in cavefish is due to a block in the ability of undifferentiated melanoblasts to accumulate L-tyrosine, the precursor of L-DOPA and melanin, in melanosomes. Genetic analysis has shown that this defect is caused by a hypomorphic mutation in the p/oca2 gene encoding an integral melanosomal membrane protein. We discuss how current studies of eye and pigment regression have revealed some of the mechanisms in which cavefish development has been changed during evolution.