Article (Scientific journals)
Structural and epistatic regulatory variants cause hallmark white spotting in cattle.
Jivanji, Swati; Wilkinson, Emma; Tang, Lijing et al.
2025In Science Advances, 11 (46), p. 5913
Peer Reviewed verified by ORBi
 

Files


Full Text
2025_Jivanji et al.pdf
Author postprint (1.35 MB)
Download

All documents in ORBi are protected by a user license.

Send to



Details



Keywords :
Microphthalmia-Associated Transcription Factor; Proto-Oncogene Proteins c-kit; Animals; Cattle/genetics; Alleles; Mice; Phenotype; Quantitative Trait Loci; Polymorphism, Single Nucleotide; Epistasis, Genetic; Microphthalmia-Associated Transcription Factor/genetics; Proto-Oncogene Proteins c-kit/genetics; Genetic Variation
Abstract :
[en] Despite being one of the most iconic and immediately recognizable traits in domestic cattle, the variants underpinning the white-spotted coat pattern of Holstein-Friesian and related breeds remain uncharacterized. Here, we report two variants modulating these effects, comprising intronic and long-distance-acting regulatory variants of the MITF and KIT genes. We confirm causality through "Holsteinized" mouse models edited for these alleles and show that these variants are likely responsible for spotting traits in other bovine breeds. These effects include epistatic impacts on other bovine coat patterns, such as fine-scale speckling, "black socks," and reversal of the otherwise dominant, "white-face" trait characteristic of Hereford cattle.
Disciplines :
Genetics & genetic processes
Author, co-author :
Jivanji, Swati ;  Livestock Improvement Corporation, Newstead, Hamilton, New Zealand ; AL Rae Centre for Genetics and Breeding, School of Agriculture and Environment, Massey University, Hamilton, New Zealand
Wilkinson, Emma ;  School of Biomedical and Life Sciences, Lancaster University, Lancaster, UK
Tang, Lijing  ;  Université de Liège - ULiège > Département de gestion vétérinaire des Ressources Animales (DRA) > Génomique animale
Tiplady, Kathryn M ;  Livestock Improvement Corporation, Newstead, Hamilton, New Zealand
Yeates, Anna ;  Livestock Improvement Corporation, Newstead, Hamilton, New Zealand
Harland, Chad  ;  Université de Liège - ULiège > Département de gestion vétérinaire des Ressources Animales (DRA) > GIGA-R : Génomique animale ; Livestock Improvement Corporation, Newstead, Hamilton, New Zealand
Gray, Charlotte;  Livestock Improvement Corporation, Newstead, Hamilton, New Zealand
Couldrey, Christine;  Livestock Improvement Corporation, Newstead, Hamilton, New Zealand
Worth, Gemma ;  Livestock Improvement Corporation, Newstead, Hamilton, New Zealand
Gamache, Isabelle;  McGill Integrated Core of Animal Modeling, McGill University, Montreal, Canada
Desjardins, Jade ;  McGill Integrated Core of Animal Modeling, McGill University, Montreal, Canada
Tabares, John A A ;  McGill Integrated Core of Animal Modeling, McGill University, Montreal, Canada
Yamanaka, Nobuko;  McGill Integrated Core of Animal Modeling, McGill University, Montreal, Canada
McNaughton, Lorna ;  Livestock Improvement Corporation, Newstead, Hamilton, New Zealand
Brennan, Louise ;  Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, UK
Cloutier, Marie-Pier ;  McGill Integrated Core of Animal Modeling, McGill University, Montreal, Canada
Cowan, Mitra ;  McGill Integrated Core of Animal Modeling, McGill University, Montreal, Canada
Ellison, Renae;  Livestock Improvement Corporation, Newstead, Hamilton, New Zealand
Fransen, Tony;  Livestock Improvement Corporation, Newstead, Hamilton, New Zealand
Monehan, Tracey ;  Livestock Improvement Corporation, Newstead, Hamilton, New Zealand
Spelman, Richard J;  Livestock Improvement Corporation, Newstead, Hamilton, New Zealand
Snell, Russell G ;  School of Biological Sciences, University of Auckland, Auckland, New Zealand
Charlier, Carole  ;  Université de Liège - ULiège > Département de gestion vétérinaire des Ressources Animales (DRA)
Yamanaka, Yojiro ;  McGill Integrated Core of Animal Modeling, McGill University, Montreal, Canada ; Goodman Cancer Institute, Department of Human Genetics, McGill University, Montreal, Canada
Garrick, Dorian ;  AL Rae Centre for Genetics and Breeding, School of Agriculture and Environment, Massey University, Hamilton, New Zealand
Mort, Richard ;  School of Biomedical and Life Sciences, Lancaster University, Lancaster, UK
Littlejohn, Mathew D ;  Livestock Improvement Corporation, Newstead, Hamilton, New Zealand ; AL Rae Centre for Genetics and Breeding, School of Agriculture and Environment, Massey University, Hamilton, New Zealand
More authors (17 more) Less
Language :
English
Title :
Structural and epistatic regulatory variants cause hallmark white spotting in cattle.
Publication date :
14 November 2025
Journal title :
Science Advances
eISSN :
2375-2548
Publisher :
American Association for the Advancement of Science (AAAS), United States
Volume :
11
Issue :
46
Pages :
eadt5913
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 20 December 2025

Statistics


Number of views
21 (0 by ULiège)
Number of downloads
10 (0 by ULiège)

Scopus citations®
 
0
Scopus citations®
without self-citations
0
OpenCitations
 
0
OpenAlex citations
 
0

Bibliography


Similar publications



Contact ORBi