ArticleGenetics2001
A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pigs.
Article in Genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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.
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.
Who cites it
46 citing papers in PubMed, 151 citations in OpenAlex.
- Genome-wide variation landscape reveals temperature adaptation in Chinese indigenous cattle.Journal of animal science and biotechnology · 2026Article
- Influence of MC1R Gene Variants on Coat Color of Indicine Cattle Breeds.Animal genetics · 2026Article
- Causal variants in animal genomes: approaches to identification, phenotypic impact, and implications for selective breeding.BMC genomics · 2026Review
- Balanced polymorphism underlies long-standing adaptation for seasonal camouflage in the least weasel.Communications biology · 2026Article
- Association between MC1R gene and coat color segregation in Shanxia long black pig and Lulai black pig.BMC genomic data · 2023Article
- Signatures of Admixture and Genetic Uniqueness in the Autochthonous Greek Black Pig Breed Deduced from Gene Polymorphisms Affecting Domestication-Derived Traits.Animals : an open access journal from MDPI · 2023Article
- Identification of breed-specific genomic variants in Colombian Creole pig breeds by whole-genome sequencing.Tropical animal health and production · 2023Article
- MC1R Gene Variants and Their Relationship with Coat Color in South American Camelids.TheScientificWorldJournal · 2023Article
- The feather pattern autosomal barring in chicken is strongly associated with segregation at the MC1R locus.Pigment cell & melanoma research · 2021Article
- Redefinition of the Mora Romagnola Pig Breed Herd Book Standard Based on DNA Markers Useful to Authenticate Its "Mono-Breed" Products: An Example of Sustainable Conservation of a Livestock Genetic Resource.Animals : an open access journal from MDPI · 2021Article
- Matching STR and SNP genotyping to discriminate between wild boar, domestic pigs and their recent hybrids for forensic purposes.Scientific reports · 2020Article
- GBS Data Identify Pigmentation-Specific Genes of Potential Role in Skin-Photosensitization in Two Tunisian Sheep Breeds.Animals : an open access journal from MDPI · 2019Article
- Whole-Genome Resequencing IdentifiesFrontiers in genetics · 2019Article
- A Novel Pale-Yellow Coat Color of Rabbits GeneratedFrontiers in genetics · 2019Article
- Article
- Coat colour phenotype of Qingyu pig is associated with polymorphisms of melanocortin receptor 1 gene.Asian-Australasian journal of animal sciences · 2017Article
- Analysis of the genetic variation in mitochondrial DNA, Y-chromosome sequences, and MC1R sheds light on the ancestry of Nigerian indigenous pigs.Genetics, selection, evolution : GSE · 2017Article
- Origin and phylogenetic status of the local Ashanti Dwarf pig (ADP) of Ghana based on genetic analysis.BMC genomics · 2017Article
- Adaptive Gene Loss? Tracing Back the Pseudogenization of the Rabbit CCL8 Chemokine.Journal of molecular evolution · 2016Article
- Genetic variations associated with six-white-point coat pigmentation in Diannan small-ear pigs.Scientific reports · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Black spotting on a red or white background in pigs is determined by the E(P) allele at the MC1R/Extension locus. A previous comparison of partial MC1R sequences revealed that E(P) shares a missense mutation (D121N) with the E(D2) allele for dominant black color. Sequence analysis of the entire coding region now reveals a second mutation in the form of a 2-bp insertion at codon 23 (nt67insCC). This mutation expands a tract of six C nucleotides to eight and introduces a premature stop codon at position 56. This frameshift mutation is expected to cause a recessive red color, which was in fact observed in some breeds with the E(P) allele present (Tamworth and Hereford). RT-PCR analyses were conducted using skin samples taken from both spotted and background areas of spotted pigs. The background red area had transcript only from the mutant nt67insCC MC1R allele, whereas the black spot also contained a transcript without the 2-bp insertion. This indicates that black spots are due to somatic reversion events that restore the frame and MC1R function. The phenotypic expression of the E(P) allele is highly variable and the associated coat color ranges from red, red with black spots, white with black spots, to almost completely solid black. In several breeds of pigs the phenotypic manifestation of this allele has been modified by selection for or against black spots.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.