OMIA 001469-9913 : Coat colour, white belt in Bos taurus

In other species: pig

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 200110 , 209885 , 227260

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."

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."

Breeds: Belted Galloway, Brown Swiss, Dutch Belted.

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Belted Galloway Brown Swiss Dutch Belted Coat colour, white belt TWIST2 repeat variation "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" 2017 28658273

References


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.
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.

Edit History


  • 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