Evidence map›Paper›PMID 22496837›Full record

ArticlePloS one2012

Fast homozygosity mapping and identification of a zebrafish ENU-induced mutation by whole-genome sequencing.

Marianne L Voz, Wouter Coppieters, Isabelle Manfroid, Ariane Baudhuin, Virginie Von Berg, Carole Charlier, Dirk Meyer, Wolfgang Driever, Joseph A Martial, Bernard Peers

Open access · goldAbstract readValidation Study
In one paragraph

Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
3.8field-weighted citation impact, top 6% 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

27 citing papers in PubMed, 44 citations in OpenAlex.

  1. Review
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  3. Proceedings of the National Academy of Sciences of the United States of America · 2022
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  14. Kinesin family member 6 (kif6) is necessary for spine development in zebrafish.Developmental dynamics : an official publication of the American Association of Anatomists · 2014
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  15. Article
  16. Review
  17. Review
  18. Production of haploid zebrafish embryos by in vitro fertilization.Journal of visualized experiments : JoVE · 2014
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  20. Review
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

10 authors at 3 institutions in 3 countries.

Marianne L VozLaboratoire de Biologie Moléculaire et de Génie Génétique, Université de Liège, Sart Tilman, Belgium. mvoz@ulg.ac.be
Wouter Coppieters
Isabelle Manfroid
Ariane Baudhuin
Virginie Von Berg
Carole Charlier
Dirk Meyer
Wolfgang Driever
Joseph A Martial
Bernard Peers
University of Liège · BEUniversität Innsbruck · ATUniversity of Freiburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Forward genetics using zebrafish is a powerful tool for studying vertebrate development through large-scale mutagenesis. Nonetheless, the identification of the molecular lesion is still laborious and involves time-consuming genetic mapping. Here, we show that high-throughput sequencing of the whole zebrafish genome can directly locate the interval carrying the causative mutation and at the same time pinpoint the molecular lesion. The feasibility of this approach was validated by sequencing the m1045 mutant line that displays a severe hypoplasia of the exocrine pancreas. We generated 13 Gb of sequence, equivalent to an eightfold genomic coverage, from a pool of 50 mutant embryos obtained from a map-cross between the AB mutant carrier and the WIK polymorphic strain. The chromosomal region carrying the causal mutation was localized based on its unique property to display high levels of homozygosity among sequence reads as it derives exclusively from the initial AB mutated allele. We developed an algorithm identifying such a region by calculating a homozygosity score along all chromosomes. This highlighted an 8-Mb window on chromosome 5 with a score close to 1 in the m1045 mutants. The sequence analysis of all genes within this interval revealed a nonsense mutation in the snapc4 gene. Knockdown experiments confirmed the assertion that snapc4 is the gene whose mutation leads to exocrine pancreas hypoplasia. In conclusion, this study constitutes a proof-of-concept that whole-genome sequencing is a fast and effective alternative to the classical positional cloning strategies in zebrafish.

Indexed as

HomozygoteAlgorithmsAlkylating AgentsAnimalsBase SequenceChromosome MappingCodon, NonsenseDNA Mutational AnalysisEthylnitrosoureaFemaleMaleMolecular Sequence DataPancreas, ExocrinePolymorphism, Single NucleotideTranscription FactorsZebrafishAlkylating AgentsCodon, NonsenseEthylnitrosoureaSnapc4 protein, zebrafishTranscription FactorsZebrafish Proteins

Identifiers

PMID22496837
PMCPMC3319596
OpenAlexW2064311965

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.