Pmela and Tyrp1b Contribute to Melanophore Variation in Mexican Cavefish

  • Bethany A. Stahl
  • Connor R. Sears
  • Li Ma
  • Molly Perkins
  • Joshua B. GrossEmail author


Regressive evolution is a widespread phenomenon that affects every living organism, yet the mechanisms underlying trait loss remain largely unknown. Cave animals enable the study of degenerative disorders, owing to the frequent loss of eyes and pigmentation among lineages evolving in the subterranean habitat. Here, we utilize the blind Mexican cavefish, Astyanax mexicanus, to investigate regressive loss of pigmentation because “ancestral” surface-dwelling morphs allow direct comparisons with cave-dwelling forms. Two genes (Oca2-albinism and Mc1r-brown) have been linked to specific pigmentation alterations in several cavefish populations. Pigment cell (melanophore) number is a complex trait governed by multiple genes, and variation in this trait may contribute to pigmentation diversity in Astyanax. To uncover genes associated with this trait, we assembled a high-resolution linkage map and used automated phenotypic scoring to quantify melanophore number variation across seven body regions in a surface × Pachón cave F2 pedigree. QTL mapping yielded several markers strongly associated with melanophore number variation in the dorsal mid-lateral stripe area and superior head region, which anchor to regions of the Astyanax genome and the zebrafish genome. Within these syntenic regions, we identified two candidate genes, Tyrp1b and Pmela, with known roles in pigmentation based on gene ontology annotation. Mutant forms of these candidate genes in other organisms cause global and regional pigmentation variation, respectively. In Astyanax, these genes harbor coding sequence mutations and demonstrate differential expression in Pachón cavefish compared to surface morphs. In sum, this work identifies genes involved with complex aspects of Astyanax pigmentation and provides insight into genetic mechanisms governing regressive phenotypic change.


Pigmentation Regressive evolution Astyanax Troglomorphy 



This study was funded by a grant from the National Science Foundation, Washington D.C., USA, to JBG (grant number DEB-1457630).

Ethical Statement All applicable international, national, and/or institutional guidelines for the care and use of animals were followed. All procedures performed in studies involving animals were in accordance with the ethical standards of the institution or practice at which the studies were conducted. The protocol was approved by the Institutional Animal Care and Use Committee (IACUC) of the University of Cincinnati (Protocol Number 10-01-21-01).


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Bethany A. Stahl
    • 1
    • 2
  • Connor R. Sears
    • 1
  • Li Ma
    • 1
  • Molly Perkins
    • 1
  • Joshua B. Gross
    • 1
    Email author
  1. 1.Department of Biological SciencesUniversity of CincinnatiCincinnatiUSA
  2. 2.Jupiter Life Science Initiative, Florida Atlantic UniversityJupiterUSA

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