title: Albinism in phylogenetically and geographically distinct populations of Astyanax cavefish arises through the same loss-of-function Oca2 allele.
abstract: The Mexican tetra, Astyanax mexicanus, comprises 29 populations of cave-adapted fish distributed across a vast karst region in northeastern Mexico. These populations have a complex evolutionary history, having descended from 'old' and 'young' ancestral surface-dwelling stocks that invaded the region ∼6.7 and ∼2.8 MYa, respectively. This study investigates a set of captive, pigmented Astyanax cavefish collected from the Micos cave locality in 1970, in which albinism appeared over the past two decades. We combined novel coloration analyses, coding sequence comparisons and mRNA expression level studies to investigate the origin of albinism in captive-bred Micos cavefish. We discovered that albino Micos cavefish harbor two copies of a loss-of-function ocular and cutaneous albinism type II (Oca2) allele previously identified in the geographically distant Pachón cave population. This result suggests that phylogenetically young Micos cavefish and phylogenetically old Pachón cave fish inherited this Oca2 allele from the ancestral surface-dwelling taxon. This likely resulted from the presence of the loss-of-function Oca2 haplotype in the 'young' ancestral surface-dwelling stock that colonized the Micos cave and also introgressed into the ancient Pachón cave population. The appearance of albinism in captive Micos cavefish, caused by the same loss-of-function allele present in Pachón cavefish, implies that geographically and phylogenetically distinct cave populations can evolve the same troglomorphic phenotype from standing genetic variation present in the ancestral taxon.
authors.affiliation: Department of Biological Sciences, University of Cincinnati, Cincinnati, OH 45221, USA. grossja@ucmail.uc.edu
authors.forename: J B
authors.initials: JB
authors.lastname: Gross
authors.forename: H
authors.initials: H
authors.lastname: Wilkens
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics*; D000483:Alleles; D000818:Animals; D001766:Blindness / Q000235:genetics*; D001947:Breeding; D059552:Caves; D060126:Characidae / Q000145:classification* / Q000235:genetics*; D005091:Exons; D005123:Eye / Q000473:pathology; D005260:Female; D056426:Genetic Loci; D014644:Genetic Variation; D007438:Introns; D008297:Male; D008800:Mexico; D010802:Phylogeny; D058974:Phylogeography