OMIA:001469-9913 : Coat colour, white belt in Bos taurus (taurine cattle)
In other species: pig
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2017
Species-specific name: Belted
History: As reported by Awasthi Mishra et al. (2017): "A 15th century painting from Austria already depicts a belted ox suggesting that this allele is at least 600 years or roughly 200 generations old (S1 Fig). Historic records are in agreement with a central European origin of the bt allele and indicate that the bt allele may subsequently have spread north-west and been introgressed into Dutch cattle to eventually form the Dutch Belted cattle and into Scottish cattle to eventually form the Belted Galloways"
Mapping: Drögemüller et al. (2009) mapped this locus in Brown Swiss cattle to a 922 kb region on chromosome BTA3. In a second paper in the same year, the authors reported narrowing down the candidate region to 336 kb. No compelling functional candidate gene could be identified in the interval.
Molecular basis: Awasthi Mishra et al. (2017) reported a likely causal variant for this classic phene: "The belt-associated variant was a copy number variant (CNV) involving the quadruplication of a 6 kb non-coding sequence located approximately 16 kb upstream of the TWIST2 gene. Increased copy numbers at this CNV were strongly associated with the belt phenotype in a cohort of 333 cases and 1322 controls. We hypothesized that the CNV causes aberrant expression of TWIST2 during neural crest development, which might negatively affect melanoblasts. Functional studies showed that ectopic expression of bovine TWIST2 in neural crest in transgenic zebrafish led to a decrease in melanocyte numbers."
In the first reported use of long-read (Oxford Nanopore) sequencing for investigating a single-locus trait in domestic animals, Rothammer et al. (2018) confirmed the quadruplication variant reported by Awasthi Mishra et al. (2017), and extended the number of breeds in which this variant occurs.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Prevalence: A survey of 333 belted cattle from three belted breeds (Brown Swiss, Belted Galloway and Lakenvelder) and 1322 non-belted cattle by Awasthi Mishra et al. (2017) showed that "copy numbers varied between 2 and 12 with the most frequently observed values being 2, 5 and 8, which most likely corresponded to the copy number genotypes 1/1, 1/4, and 4/4. The belt phenotype was strongly associated with an increased copy number at the CNV . . . . The copy number was not associated with the width, position, or regularity of the belt."
Belted Galloway (Cattle) (VBO_0000142),
Brown Swiss (Cattle) (VBO_0000166),
Dutch Belted (Cattle) (VBO_0000197),
Lakenvelder (Cattle) (VBO_0000267),
Yakutskii Skot, Russian Federation (Cattle) (VBO_0004351).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TWIST2||twist family bHLH transcription factor 2||Bos taurus||3||NC_037330.1 (118051375..118103634)||TWIST2||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|761||Belted Galloway (Cattle) Brown Swiss (Cattle) Dutch Belted (Cattle) Lakenvelder (Cattle) Yakutskii Skot, Russian Federation (Cattle)||Coat colour, white belt||TWIST2||repeat variation||Naturally occurring variant||3||"The belt-associated variant was a copy number variant (CNV) involving the quadruplication of a 6 kb non-coding sequence located approximately 16 kb upstream of the TWIST2 gene" (Awasthi Mishra et al., 2017) 200922: g. info moved to here (g.118,607,715-118,614,131) until it can be standardised "a quadruplication on bovine chromosome 3 between positions 118,608,362 and 118,614,132 bp" (UMD3.1) (Rothammer et al., 2018)||2017||28658273|
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2018||Rothammer, S., Kunz, E., Krebs, S., Bitzer, F., Hauser, A., Zinovieva, N., Klymiuk, N., Medugorac, I. :|
|Remapping of the belted phenotype in cattle on BTA3 identifies a multiplication event as the candidate causal mutation. Genet Sel Evol 50:36, 2018. Pubmed reference: 29980171. DOI: 10.1186/s12711-018-0407-9.|
|2017||Awasthi Mishra, N., Drögemüller, C., Jagannathan, V., Keller, I., Wüthrich, D., Bruggmann, R., Beck, J., Schütz, E., Brenig, B., Demmel, S., Moser, S., Signer-Hasler, H., Pieńkowska-Schelling, A., Schelling, C., Sande, M., Rongen, R., Rieder, S., Kelsh, R.N., Mercader, N., Leeb, T. :|
|A structural variant in the 5'-flanking region of the TWIST2 gene affects melanocyte development in belted cattle. PLoS One 12:e0180170, 2017. Pubmed reference: 28658273. DOI: 10.1371/journal.pone.0180170.|
|2016||Leroy, G., Besbes, B., Boettcher, P., Hoffmann, I., Capitan, A., Baumung, R. :|
|Rare phenotypes in domestic animals: unique resources for multiple applications. Anim Genet 47:141-53, 2016. Pubmed reference: 26662214. DOI: 10.1111/age.12393.|
|2010||Drogemuller, C., Demmel, S., Engensteiner, M., Rieder, S., Leeb, T. :|
|A shared 336 kb haplotype associated with the belt pattern in three divergent cattle breeds. Anim Genet 41:304-307, 2010. Pubmed reference: 19917047. DOI: 10.1111/j.1365-2052.2009.01987.x.|
|2009||Drögemüller, C., Engensteiner, M., Moser, S., Rieder, S., Leeb, T. :|
|Genetic mapping of the belt pattern in Brown Swiss cattle to BTA3. Anim Genet 40:225-9, 2009. Pubmed reference: 19159407. DOI: 10.1111/j.1365-2052.2008.01826.x.|
|1921||Durham, G.B. :|
|Inheritance of belting spotting in cattle and swine. American Naturalist 55:476-477, 1921.|
|1920||Kuiper, K. :|
|Onderzoekingen over kleur en teekening bij runderen [Research on color and colour patterns in cattle] Genetica 2:137-161, 1920.|
- Created by Frank Nicholas on 25 Feb 2010
- Changed by Frank Nicholas on 30 Jun 2017
- Changed by Frank Nicholas on 01 Jul 2017
- Changed by Tosso Leeb on 04 Jul 2017
- Changed by Frank Nicholas on 19 Feb 2020