Evidence map›Paper›PMID 25887951›Full record

ArticleGenetics, selection, evolution : GSE2015

A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light points coat phenotype in donkeys.

Marie Abitbol, Romain Legrand, Laurent Tiret

Open access · goldAbstract read
In one paragraph

Article in Genetics, selection, evolution : GSE, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.1field-weighted citation impact, top 24% 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

10 citing papers in PubMed, 23 citations in OpenAlex.

  1. Coat colour in marsupials: genetic variants at theRoyal Society open science · 2024
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  8. Comparative FISH-Mapping ofFrontiers in genetics · 2019
    Article
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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.

Marie AbitbolInra, Unité de Génétique Fonctionnelle et Médicale, Ecole nationale vétérinaire d'Alfort, Maisons-Alfort, 94700, France. m.abitbol@vet-alfort.fr.
Romain LegrandInra, Unité de Génétique Fonctionnelle et Médicale, Ecole nationale vétérinaire d'Alfort, Maisons-Alfort, 94700, France. romainlegrand.vet@gmail.com.
Laurent TiretInra, Unité de Génétique Fonctionnelle et Médicale, Ecole nationale vétérinaire d'Alfort, Maisons-Alfort, 94700, France. ltiret@vet-alfort.fr.
École Nationale Vétérinaire d'Alfort · FRUniversité Paris-Est Créteil · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSeven donkey breeds are recognized by the French studbook and are characterized by a black, bay or grey coat colour including light cream-to-white points (LP). Occasionally, Normand bay donkeys give birth to dark foals that lack LP and display the no light points (NLP) pattern. This pattern is more frequent and officially recognized in American miniature donkeys. The LP (or pangare) phenotype resembles that of the light bellied agouti pattern in mouse, while the NLP pattern resembles that of the mammalian recessive black phenotype; both phenotypes are associated with the agouti signaling protein gene (ASIP).

findingsWe used a panel of 127 donkeys to identify a recessive missense c.349 T > C variant in ASIP that was shown to be in complete association with the NLP phenotype. This variant results in a cysteine to arginine substitution at position 117 in the ASIP protein. This cysteine is highly-conserved among vertebrate ASIP proteins and was previously shown by mutagenesis experiments to lie within a functional site. Altogether, our results strongly support that the identified mutation is causative of the NLP phenotype.

conclusionsThus, we propose to name the c.[349 T > C] allele in donkeys, the a(nlp) allele, which enlarges the panel of coat colour alleles in donkeys and ASIP recessive loss-of-function alleles in animals.

Indexed as

Mutation, MissensePhenotypeAgouti Signaling ProteinAnimalsEquidaeGenotypeMolecular Sequence DataAgouti Signaling Protein

Identifiers

PMID25887951
PMCPMC4389795
OpenAlexW2158366079

What OpenQuestion holds

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LicenceCC BY
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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.