Evidence map›Paper›PMID 32487986›Full record

ArticleNature communications2020

A hypomorphic cystathionine ß-synthase gene contributes to cavefish eye loss by disrupting optic vasculature.

Li Ma, Aniket V Gore, Daniel Castranova, Janet Shi, Mandy Ng, Kelly A Tomins, Corine M van der Weele, Brant M Weinstein, William R Jeffery

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
7.3field-weighted citation impact, top 4% 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

22 citing papers in PubMed, 37 citations in OpenAlex.

  1. Review
  2. Automated Profiling of Social Behaviors to Assess the Genetic Basis of Evolution of Aggressive Behaviors in Astyanax mexicanus.Journal of experimental zoology. Part A, Ecological and integrative physiology · 2026
    Article
  3. Article
  4. Novel mechanisms of chemosensory adaptation to the cave environment.bioRxiv : the preprint server for biology · 2026
    Article
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  6. Review
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  14. Review
  15. Article
  16. ZooKeys · 2023
    Article
  17. Article
  18. Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 2 institutions in 1 country.

Li MaDepartment of Biology, University of Maryland, College Park, MD, USA.ORCID http://orcid.org/0000-0003-0233-3039
Aniket V GoreDivision of Developmental Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD, USA.
Daniel CastranovaDivision of Developmental Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD, USA.
Janet ShiDepartment of Biology, University of Maryland, College Park, MD, USA.
Mandy NgDepartment of Biology, University of Maryland, College Park, MD, USA.
Kelly A TominsDivision of Developmental Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD, USA.
Corine M van der WeeleDepartment of Biology, University of Maryland, College Park, MD, USA.
Brant M WeinsteinDivision of Developmental Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD, USA.
William R JefferyDepartment of Biology, University of Maryland, College Park, MD, USA. Jeffery@umd.edu.ORCID http://orcid.org/0000-0002-6997-2946
University of Maryland, College Park · USEunice Kennedy Shriver National Institute of Child Health and Human Development · US

Funding

Specification And Patterning of Developing Blood VesselsZIAHD001011 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI WEINSTEIN, BRANT · 2009 to 2025
$18.4M
Molecular Genetic Analysis of Sclera Development and DegenerationR01EY024941 · NEI · UNIV OF MARYLAND, COLLEGE PARK · PI JEFFERY, WILLIAM R · 2015 to 2019
$1.9M
NEI NIH HHS R01 EY024941
6 · The paper itself

Abstract

Vestigial structures are key indicators of evolutionary descent, but the mechanisms underlying their development are poorly understood. This study examines vestigial eye formation in the teleost Astyanax mexicanus, which consists of a sighted surface-dwelling morph and multiple populations of blind cave morphs. Cavefish embryos initially develop eyes, but they subsequently degenerate and become vestigial structures embedded in the head. The mutated genes involved in cavefish vestigial eye formation have not been characterized. Here we identify cystathionine ß-synthase a (cbsa), which encodes the key enzyme of the transsulfuration pathway, as one of the mutated genes responsible for eye degeneration in multiple cavefish populations. The inactivation of cbsa affects eye development by increasing the transsulfuration intermediate homocysteine and inducing defects in optic vasculature, which result in aneurysms and eye hemorrhages. Our findings suggest that localized modifications in the circulatory system may have contributed to the evolution of vestigial eyes in cavefish.

Indexed as

AnimalsApoptosisBiological EvolutionBrainCardiovascular SystemCystathionineCystathionine beta-SynthaseDevelopmental BiologyEyeFemaleFishesGene Expression Regulation, DevelopmentalGene Knockdown TechniquesHeadLens, CrystallineMaleCystathionineCystathionine beta-Synthase

Identifiers

PMID32487986
PMCPMC7265459
OpenAlexW3032218466

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.