Evidence map›Paper›PMID 28282952›Full record

ArticleGenes2017

A Frameshift Mutation in KIT is Associated with  White Spotting in the Arabian Camel.

Heather Holl, Ramiro Isaza, Yasmin Mohamoud, Ayeda Ahmed, Faisal Almathen, Cherifi Youcef, Semir Gaouar, Douglas F Antczak, Samantha Brooks

Open access · goldAbstract read
In one paragraph

Article in Genes, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
2.4field-weighted citation impact, top 12% 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

13 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.

  1. Pooled it
  2. Beyond black and white: dissecting the genetic basis of skin depigmentation in Nellore cattle.Mammalian genome : official journal of the International Mammalian Genome Society · 2025
    Article
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  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Comparative FISH-Mapping ofFrontiers in genetics · 2019
    Article
  11. Review
  12. Article
  13. Article
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

9 authors at 5 institutions in 4 countries.

Heather HollDepartment of Animal Sciences, UF Genomics Institute, University of Florida, Gainesville, FL 32610, USA. heather.holl@ufl.edu.
Ramiro IsazaDepartment of Small Animal Clinical Sciences, College of Veterinary Medicine, University of Florida, Gainesville, FL 32608, USA. isazar@ufl.edu.
Yasmin MohamoudDepartment of Genetic Medicine, Weill Cornell Medical College in Qatar, Doha, Qatar. yam2012@qatarmed.cornell.edu.
Ayeda AhmedDepartment of Genetic Medicine, Weill Cornell Medical College in Qatar, Doha, Qatar. yam2012@qatarmed.cornell.edu.
Faisal AlmathenVeterinary Public Health and Animal Husbandry, College of Veterinary Medicine and Animal Resources, King Faisal University, Al-Ahsa 31982, Saudi Arabia. faisalvet@hotmail.com.
Cherifi YoucefDepartment of Biology, University of Abou Bekr Belkaïd, Tlemcen 13000, Algeria. cherifi.youcef@ymail.com.
Semir GaouarDepartment of Biology, University of Abou Bekr Belkaïd, Tlemcen 13000, Algeria. suheilgaouar@gmail.com.
Douglas F AntczakBaker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA. dfa1@cornell.edu.
Samantha BrooksDepartment of Animal Sciences, UF Genomics Institute, University of Florida, Gainesville, FL 32610, USA. samantha.brooks@ufl.edu.
University of Florida · USUniversity of Abou Bekr Belkaïd · DZWeill Cornell Medical College in Qatar · QACornell University · USKing Faisal University · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

While the typical Arabian camel is characterized by a single colored coat, there are rare populations with white spotting patterns. White spotting coat patterns are found in virtually all domesticated species, but are rare in wild species. Theories suggest that white spotting is linked to the domestication process, and is occasionally associated with health disorders. Though mutations have been found in a diverse array of species, fewer than 30 genes have been associated with spotting patterns, thus providing a key set of candidate genes for the Arabian camel. We obtained 26 spotted camels and 24 solid controls for candidate gene analysis. One spotted and eight solid camels were whole genome sequenced as part of a separate project. The spotted camel was heterozygous for a frameshift deletion in KIT (c.1842delG, named KITW1 for White spotting 1), whereas all other camels were wild-type (KIT+/KIT+). No additional mutations unique to the spotted camel were detected in the EDNRB, EDN3, SOX10, KITLG, PDGFRA, MITF, and PAX3 candidate white spotting genes. Sanger sequencing of the study population identified an additional five kITW1/KIT+ spotted camels. The frameshift results in a premature stop codon five amino acids downstream, thus terminating KIT at the tyrosine kinase domain. An additional 13 spotted camels tested KIT+/KIT+, but due to phenotypic differences when compared to the KITW1/KIT+ camels, they likely represent an independent mutation. Our study suggests that there are at least two causes of white spotting in the Arabian camel, the newly described KITW1 allele and an uncharacterized mutation.

Indexed as

Arabian cameldromedary camelKITwhite spotting

Identifiers

PMID28282952
PMCPMC5368706
OpenAlexW2591763106

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.