Omneity® Pellets
All-In-One Vitamin & Mineral Pellet
Current insights into the molecular genetic basis of dwarfism in livestock.
Abstract: Impairment of bone growth at a young age leads to dwarfism in adulthood. Dwarfism can be categorised as either proportionate, an overall size reduction without changes in body proportions, or disproportionate, a size reduction in one or more limbs, with changes in body proportions. Many forms of dwarfism are inherited and result from structural disruptions or disrupted signalling pathways. Hormonal disruptions are evident in Brooksville miniature Brahman cattle and Z-linked dwarfism in chickens, caused by mutations in GH1 and GHR. Furthermore, mutations in IHH are the underlying cause of creeper achondroplasia in chickens. Belgian blue cattle display proportionate dwarfism caused by a mutation in RNF11, while American Angus cattle dwarfism is caused by a mutation in PRKG2. Mutations in EVC2 are associated with dwarfism in Japanese brown cattle and Tyrolean grey cattle. Fleckvieh dwarfism is caused by mutations in the GON4L gene. Mutations in COL10A1 and COL2A1 cause dwarfism in pigs and Holstein cattle, both associated with structural disruptions, while several mutations in ACAN are associated with bulldog-type dwarfism in Dexter cattle and dwarfism in American miniature horses. In other equine breeds, such as Shetland ponies and Friesian horses, dwarfism is caused by mutations in SHOX and B4GALT7. In Texel sheep, chondrodysplasia is associated with a deletion in SLC13A1. This review discusses genes known to be involved in these and other forms of dwarfism in livestock.
Copyright © 2017 Elsevier Ltd. All rights reserved.
Publication Date: 2017-06-02 PubMed ID: 28697878DOI: 10.1016/j.tvjl.2017.05.014Google Scholar: Lookup The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
- Journal Article
- Review
Summary
This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.
The research article provides an extensive review of the genetic causes of dwarfism in various species of livestock, looking at the different mutations in specific genes that often result in disproportioned or proportioned dwarfism.
Introduction to Dwarfism in Livestock
- Dwarfism in livestock is an impairment of bone growth at a young age, leading to significantly smaller adult size. It is often a result of structural disruptions or disrupted signalling pathways in the animal’s genes.
- There are two categories of dwarfism, proportionate and disproportionate. Proportionate dwarfism involves an overall size reduction without changes in body proportions, while disproportionate dwarfism affects specific limbs more disproportionately.
Dwarfism and Hormonal Disruptions
- In some animals, dwarfism is related to hormonal disruptions. The article cites examples of this in Brooksville miniature Brahman cattle and Z-linked dwarfism in chickens. In the former, the dwarfism is caused by mutations in the GH1 gene, and in the latter, the GHR gene.
Mutations Leading to Dwarfism
- Different gene mutations are associated with dwarfism in various breeds of livestock. Mutations in the IHH gene cause creeper achondroplasia in chickens, while mutations in the RNF11 gene result in proportionate dwarfism in Belgian blue cattle.
- In American Angus cattle, dwarfism is caused by a mutation in the PRKG2 gene. On the other hand, Japanese brown cattle and Tyrolean grey cattle experience dwarfism due to mutations in the EVC2 gene.
- Regarding pigs and Holstein cattle, dwarfism is often due to mutations in the COL10A1 and COL2A1 genes, respectively, both associated with structural disruptions.
Dwarfism in Different Equine Breeds
- Different equine breeds experience dwarfism due to mutations in varying genes. For instance, American miniature horses experience dwarfism due to several mutations in the ACAN gene, while Shetland ponies and Friesian horses‘ dwarfism is caused by mutations in the SHOX and B4GALT7 genes, respectively.
Dwarfism in Sheep
- For Texel sheep, a breed known for its chondrodysplasia, a form of dwarfism characterized by shortening of the limbs, this is associated with a deletion in the SLC13A1 gene.
Conclusion
- In conclusion, the research article provides a thorough review of the genetic basis of dwarfism in livestock—summarizing the various gene mutations associated with dwarfism in different breeds of livestock.
Cite This Article
APA
Boegheim IJM, Leegwater PAJ, van Lith HA, Back W.
(2017).
Current insights into the molecular genetic basis of dwarfism in livestock.
Vet J, 224, 64-75.
https://doi.org/10.1016/j.tvjl.2017.05.014 Publication
Researcher Affiliations
- Department of Equine Sciences, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 112-114, NL-3584 CM Utrecht, The Netherlands.
- Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, NL-3508 TD Utrecht, The Netherlands.
- Division of Animal Welfare and Laboratory Animal Science, Department of Animals in Science and Society, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 2, NL-3584 CM Utrecht, The Netherlands; Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Universiteitsweg 100, NL-3584 CG Utrecht, The Netherlands.
- Department of Equine Sciences, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 112-114, NL-3584 CM Utrecht, The Netherlands. Electronic address: W.Back@uu.nl.
MeSH Terms
- Animals
- Bone Diseases, Developmental / genetics
- Bone Diseases, Developmental / veterinary
- Breeding
- Cattle / genetics
- Cattle Diseases / genetics
- Chickens / genetics
- Dwarfism / genetics
- Dwarfism / veterinary
- Horse Diseases / genetics
- Horses
- Livestock / genetics
- Livestock / growth & development
- Mutation
- Phenotype
- Poultry Diseases / genetics
- Signal Transduction / genetics
- Swine
- Swine Diseases / genetics
Citations
This article has been cited 21 times.- Wu Z, Xing S, Groenen MAM, Crooijmans RPMA. Detection of differentially expressed genes in bantam chickens providing insights into chicken dwarfism. BMC Genom Data 2025 Dec 4;27(1):4.
- Tan L, Xu N, Liu Z, Cai X, Kong Y, Wen Z, Wang Y, Zhao Y. Genome-wide association studies on longitudinal phenotypes reveal genetic mechanisms of egg production in chickens. Poult Sci 2025 Aug;104(8):105280.
- Quan K, Li J, Han H, Liu K, Shi H, Wang H, Jin M, Sun W, Wei C. Two-Generation Crossbreeding of White-Headed Suffolk and Small-Tailed Han Sheep: Heterosis, Sustainable Production Traits, and Morphological Features in Central China. Animals (Basel) 2025 Apr 7;15(7).
- Wang J, Liu J, Lei Q, Liu Z, Han H, Zhang S, Qi C, Liu W, Li D, Li F, Cao D, Zhou Y. Elucidation of the genetic determination of body weight and size in Chinese local chicken breeds by large-scale genomic analyses. BMC Genomics 2024 Mar 20;25(1):296.
- Habibu B, Aluwong T, Yaqub LS, Buhari HU, Makun HJ, Kawu MU. Metabolic adjustments in neonatal dwarf and normal-sized goat kids: Relationship between serum metabolites and body size. PLoS One 2023;18(11):e0289809.
- Perini F, Cendron F, Wu Z, Sevane N, Li Z, Huang C, Smith J, Lasagna E, Cassandro M, Penasa M. Genomics of Dwarfism in Italian Local Chicken Breeds. Genes (Basel) 2023 Mar 3;14(3).
- Kalds P, Zhou S, Gao Y, Cai B, Huang S, Chen Y, Wang X. Genetics of the phenotypic evolution in sheep: a molecular look at diversity-driving genes. Genet Sel Evol 2022 Sep 9;54(1):61.
- Narayan E, Sawyer G, Fox D, Smith R, Tilbrook A. Interplay Between Stress and Reproduction: Novel Epigenetic Markers in Response to Shearing Patterns in Australian Merino Sheep (Ovis aries). Front Vet Sci 2022;9:830450.
- Jacinto JGP, Häfliger IM, Baes CF, de Oliveira HR, Drögemüller C. A de novo start-lost variant in ANKRD28 in a Holstein calf with dwarfism. Anim Genet 2022 Jun;53(3):470-471.
- Wang W, Sun H, Ye Y, Shao Z, Xiao Y. Influence and Effect of Acupoint Application of Chinese Medicine on Height and Bone Age of Children with Short Stature. Evid Based Complement Alternat Med 2021;2021:7459593.
- Rudd Garces G, Turba ME, Muracchini M, Diana A, Jagannathan V, Gentilini F, Leeb T. PRKG2 Splice Site Variant in Dogo Argentino Dogs with Disproportionate Dwarfism. Genes (Basel) 2021 Sep 24;12(10).
- Geiger M, Schoenebeck JJ, Schneider RA, Schmidt MJ, Fischer MS, Sánchez-Villagra MR. Exceptional Changes in Skeletal Anatomy under Domestication: The Case of Brachycephaly. Integr Org Biol 2021;3(1):obab023.
- Wu Z, Bortoluzzi C, Derks MFL, Liu L, Bosse M, Hiemstra SJ, Groenen MAM, Crooijmans RPMA. Heterogeneity of a dwarf phenotype in Dutch traditional chicken breeds revealed by genomic analyses. Evol Appl 2021 Apr;14(4):1095-1108.
- Yang LL, Liang SS. Study on pathogenic genes of dwarfism disease by next-generation sequencing. World J Clin Cases 2021 Mar 6;9(7):1600-1609.
- Woolley SA, Hayes SE, Shariflou MR, Nicholas FW, Willet CE, O'Rourke BA, Tammen I. Molecular basis of a new ovine model for human 3M syndrome-2. BMC Genet 2020 Sep 15;21(1):106.
- Bortoluzzi C, Megens HJ, Bosse M, Derks MFL, Dibbits B, Laport K, Weigend S, Groenen MAM, Crooijmans RPMA. Parallel Genetic Origin of Foot Feathering in Birds. Mol Biol Evol 2020 Sep 1;37(9):2465-2476.
- Andrade DGA, Basso RM, Castiglioni MCR, Silva JP, Machado VMV, Laufer-Amorim R, Borges AS, Oliveira-Filho JP. Description of the D4/D4 genotype in Miniature horses with dwarfism. J Vet Diagn Invest 2020 Jan;32(1):99-102.
- Niego A, Benítez-Burraco A. Williams Syndrome, Human Self-Domestication, and Language Evolution. Front Psychol 2019;10:521.
- Elayadeth-Meethal M, Thazhathu Veettil A, Maloney SK, Hawkins N, Misselbrook TH, Sejian V, Rivero MJ, Lee MRF. Size does matter: Parallel evolution of adaptive thermal tolerance and body size facilitates adaptation to climate change in domestic cattle. Ecol Evol 2018 Nov;8(21):10608-10620.
- Wu Z, Derks MFL, Dibbits B, Megens HJ, Groenen MAM, Crooijmans RPMA. A Novel Loss-of-Function Variant in Transmembrane Protein 263 (TMEM263) of Autosomal Dwarfism in Chicken. Front Genet 2018;9:193.
- Lin S, Li C, Li C, Zhang X. Growth Hormone Receptor Mutations Related to Individual Dwarfism. Int J Mol Sci 2018 May 10;19(5).
Use Nutrition Calculator
Check if your horse's diet meets their nutrition requirements with our easy-to-use tool Check your horse's diet with our easy-to-use tool
Talk to a Nutritionist
Discuss your horse's feeding plan with our experts over a free phone consultation Discuss your horse's diet over a phone consultation
Submit Diet Evaluation
Get a customized feeding plan for your horse formulated by our equine nutritionists Get a custom feeding plan formulated by our nutritionists
