Evidence map›Paper›PMID 19119422›Full record

ArticlePLoS genetics2009

A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the cavefish Astyanax mexicanus.

Joshua B Gross, Richard Borowsky, Clifford J Tabin

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 128 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
128citing papers in PubMed, 1 pooled it
33.6field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

128 citing papers in PubMed, 1 synthesis or guideline pooled it, 303 citations in OpenAlex.

  1. Pooled it
  2. Review
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  7. Novel mechanisms of chemosensory adaptation to the cave environment.bioRxiv : the preprint server for biology · 2026
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68 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 1 country.

Joshua B GrossDepartment of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America.
Richard Borowsky
Clifford J Tabin
Harvard University · USNew York University · US

Funding

The Genetics of Eye DiseaseR03EY016783 · NEI · NEW YORK UNIVERSITY · PI BOROWSKY, RICHARD · 2005 to 2007
$451k
Genetic analysis of morphological traits in cavefish, Astyanax mexicanus.F32GM081439 · NIGMS · HARVARD MEDICAL SCHOOL · PI GROSS, JOSHUA BENJAMIN · 2007 to 2008
$72k
NEI NIH HHS R03 EY016783NEI NIH HHS R03EY016783-01NIGMS NIH HHS 1F32 GM081439-01NIGMS NIH HHS F32 GM081439
6 · The paper itself

Abstract

The evolution of degenerate characteristics remains a poorly understood phenomenon. Only recently has the identification of mutations underlying regressive phenotypes become accessible through the use of genetic analyses. Focusing on the Mexican cave tetra Astyanax mexicanus, we describe, here, an analysis of the brown mutation, which was first described in the literature nearly 40 years ago. This phenotype causes reduced melanin content, decreased melanophore number, and brownish eyes in convergent cave forms of A. mexicanus. Crosses demonstrate non-complementation of the brown phenotype in F(2) individuals derived from two independent cave populations: Pachón and the linked Yerbaniz and Japonés caves, indicating the same locus is responsible for reduced pigmentation in these fish. While the brown mutant phenotype arose prior to the fixation of albinism in Pachón cave individuals, it is unclear whether the brown mutation arose before or after the fixation of albinism in the linked Yerbaniz/Japonés caves. Using a QTL approach combined with sequence and functional analyses, we have discovered that two distinct genetic alterations in the coding sequence of the gene Mc1r cause reduced pigmentation associated with the brown mutant phenotype in these caves. Our analysis identifies a novel role for Mc1r in the evolution of degenerative phenotypes in blind Mexican cavefish. Further, the brown phenotype has arisen independently in geographically separate caves, mediated through different mutations of the same gene. This example of parallelism indicates that certain genes are frequent targets of mutation in the repeated evolution of regressive phenotypes in cave-adapted species.

Indexed as

Evolution, MolecularAnimalsFishesGenetics, PopulationGenotypeLinkage DisequilibriumMelaninsMutationPhenotypePigmentationPopulationQuantitative Trait LociReceptor, Melanocortin, Type 1ZebrafishMelaninsReceptor, Melanocortin, Type 1

Identifiers

PMID19119422
PMCPMC2603666
OpenAlexW2105120559

What OpenQuestion holds

Textmetadata
LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.