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Dev Biol. 2018 Sep 15;441(2):313-318. doi: 10.1016/j.ydbio.2018.03.014. Epub 2018 Mar 16.

CRISPR mutagenesis confirms the role of oca2 in melanin pigmentation in Astyanax mexicanus.

Author information

1
Department of Genetics, Development and Cell Biology, Iowa State University, 640 Science Hall II, Ames, IA 50011, USA.
2
Stowers Institute for Medical Research, 1000 E 50th Street, Kansas City, MO 64110, USA.
3
Stowers Institute for Medical Research, 1000 E 50th Street, Kansas City, MO 64110, USA; Department of Molecular and Integrative Physiology, The University of Kansas Medical Center, Kansas City, KS 66160, USA.
4
Department of Genetics, Development and Cell Biology, Iowa State University, 640 Science Hall II, Ames, IA 50011, USA. Electronic address: jkowalko@iastate.edu.

Abstract

Understanding the genetic basis of trait evolution is critical to identifying the mechanisms that generated the immense amount of diversity observable in the living world. However, genetically manipulating organisms from natural populations with evolutionary adaptations remains a significant challenge. Astyanax mexicanus exists in two interfertile forms, a surface-dwelling form and multiple independently evolved cave-dwelling forms. Cavefish have evolved a number of morphological and behavioral traits and multiple quantitative trait loci (QTL) analyses have been performed to identify loci underlying these traits. These studies provide a unique opportunity to identify and test candidate genes for these cave-specific traits. We have leveraged the CRISPR/Cas9 genome editing techniques to characterize the effects of mutations in oculocutaneous albinism II (oca2), a candidate gene hypothesized to be responsible for the evolution of albinism in A. mexicanus cave populations. We generated oca2 mutant surface A. mexicanus. Surface fish with oca2 mutations are albino due to a disruption in the first step of the melanin synthesis pathway, the same step that is disrupted in albino cavefish. Hybrid offspring from crosses between oca2 mutant surface and cavefish are albino, definitively demonstrating the role of this gene in the evolution of albinism in this species. This research elucidates the role oca2 plays in pigmentation in fish, and establishes that this gene is solely responsible for the evolution of albinism in multiple cavefish populations. Finally, it demonstrates the utility of using genome editing to investigate the genetic basis of trait evolution.

KEYWORDS:

Astyanax mexicanus; CRISPR/Cas9; Cavefish; Genome editing; oca2

PMID:
29555241
DOI:
10.1016/j.ydbio.2018.03.014
[Indexed for MEDLINE]

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