ArticleGenetics, selection, evolution : GSE2019
Genome-wide association analysis reveals QTL and candidate mutations involved in white spotting in cattle.
Article in Genetics, selection, evolution : GSE, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 41 citations in OpenAlex.
- The Genomic Landscape of Cattle: Domestication, Dispersal, and Adaptive Evolution.Animals : an open access journal from MDPI · 2026Review
- Detection of selection signatures in indigenous African cattle reveals genomic footprints of adaptation, production and temperament traits.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- An Increase in Male Recombination Rate With Age in Dairy Cattle Is Heritable and Polygenic.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2026Article
- Beyond black and white: dissecting the genetic basis of skin depigmentation in Nellore cattle.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Structural and epistatic regulatory variants cause hallmark white spotting in cattle.Science advances · 2025Article
- Whole-genome sequencing reveals complex structural variations at a major locus linked to pigmented spot sizes in Tianfu goats.BMC genomics · 2025Article
- Whole-genome sequencing reveals genetic architecture and selection signatures of Kazakh cattle.Zoological research · 2025Article
- Understanding the skin blackening phenomenon in Youzhou Dark goats based on the histological characteristics of melanocytes.Journal of advanced veterinary and animal research · 2024Article
- Genome-wide association study of genetic markers of coat color patterns in Sumatran native cattle.Veterinary world · 2024Article
- Genomic analysis reveals the association of KIT and MITF variants with the white spotting in swamp buffaloes.BMC genomics · 2024Article
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- Uncovering genes underlying coat color variation in indigenous cattle breeds through genome-wide positive selection.Animal biotechnology · 2023Article
- Article
- Chromosome-level reference genome for North American bison (Bison bison) and variant database aids in identifying albino mutation.G3 (Bethesda, Md.) · 2023Article
- Average semivariance directly yields accurate estimates of the genomic variance in complex trait analyses.G3 (Bethesda, Md.) · 2022Article
- Screening for phenotypic outliers identifies an unusually low concentration of a β-lactoglobulin B protein isoform in bovine milk caused by a synonymous SNP.Genetics, selection, evolution : GSE · 2022Article
- Integrative QTL mapping and selection signatures in Groningen White Headed cattle inferred from whole-genome sequences.PloS one · 2022Article
- Holstein Friesian dairy cattle edited for diluted coat color as a potential adaptation to climate change.BMC genomics · 2021Article
- Exploiting within-breed variability in the autochthonous Reggiana breed identified several candidate genes affecting pigmentation-related traits, stature and udder defects in cattle.Animal genetics · 2021Article
- Average semivariance yields accurate estimates of the fraction of marker-associated genetic variance and heritability in complex trait analyses.PLoS genetics · 2021Article
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWhite spotting of the coat is a characteristic trait of various domestic species including cattle and other mammals. It is a hallmark of Holstein-Friesian cattle, and several previous studies have detected genetic loci with major effects for white spotting in animals with Holstein-Friesian ancestry. Here, our aim was to better understand the underlying genetic and molecular mechanisms of white spotting, by conducting the largest mapping study for this trait in cattle, to date.
resultsUsing imputed whole-genome sequence data, we conducted a genome-wide association analysis in 2973 mixed-breed cows and bulls. Highly significant quantitative trait loci (QTL) were found on chromosomes 6 and 22, highlighting the well-established coat color genes KIT and MITF as likely responsible for these effects. These results are in broad agreement with previous studies, although we also report a third significant QTL on chromosome 2 that appears to be novel. This signal maps immediately adjacent to the PAX3 gene, which encodes a known transcription factor that controls MITF expression and is the causal locus for white spotting in horses. More detailed examination of these loci revealed a candidate causal mutation in PAX3 (p.Thr424Met), and another candidate mutation (rs209784468) within a conserved element in intron 2 of MITF transcripts expressed in the skin. These analyses also revealed a mechanistic ambiguity at the chromosome 6 locus, where highly dispersed association signals suggested multiple or multiallelic QTL involving KIT and/or other genes in this region.
conclusionsOur findings extend those of previous studies that reported KIT as a likely causal gene for white spotting, and report novel associations between candidate causal mutations in both the MITF and PAX3 genes. The sizes of the effects of these QTL are substantial, and could be used to select animals with darker, or conversely whiter, coats depending on the desired characteristics.
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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.