OMIA:001593-9913 : Scurs, type 2 in Bos taurus (taurine cattle)
Categories: Craniofacial 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: 2011
Cross-species summary: Scurs are horn-like appendages. In contrast to horns, scurs are not attached to the skull.
Species-specific symbol: T2SS
History: Capitan et al. (2011) were the first to describe this trait, in the Charolais breed. It is characterised by a typical scurs phenotype plus skull interfrontal suture synostosis.
Mapping: Capitan et al. (2011) mapped this trait in Charolais cattle to a 1.7Mb region of chromosome BTA4.
Molecular basis: By sequencing a strong positional candidate gene, namely TWIST1, Capitan et al. (2011) identified a small duplication (c.148_157dup (p.A56RfsX87)) that inactivates the gene. This frameshift mutation segregates perfectly with type 2 scurs.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Charolais (Cattle) (VBO_0000177).
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|
|TWIST1||twist family bHLH transcription factor 1||Bos taurus||4||NC_037331.1 (27819874..27817880)||TWIST1||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|
|594||Charolais (Cattle)||Scurs, type 2||TWIST1||duplication||Naturally occurring variant||ARS-UCD1.2||4||g.27819577_27819586dup||c.148_157dup||p.(A56Rfs*87)||c.DNA position based on NM_001191145.1||2011||21814570||Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446.|
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.
|2022||Grohs, C., Boussaha, M., Hozé, C., Capitan, A. :|
|Rare cases of hernia of the linea alba among TWIST1 haploinsufficient Charolais cattle. Anim Genet 53:239-241, 2022. Pubmed reference: 35187669. DOI: 10.1111/age.13179.|
|2021||He, X.H., Jiang, L., Pu, Y.B., Zhao, Q.J., Ma, Y.H. :|
|Progress on genetic mapping and genetic mechanism of cattle and sheep horns. Yi Chuan 43:40-51, 2021. Pubmed reference: 33509773. DOI: 10.16288/j.yczz.20-229.|
|2011||Capitan, A., Grohs, C., Weiss, B., Rossignol, M.N., Reversé, P., Eggen, A. :|
|A newly described bovine type 2 scurs syndrome segregates with a frame-shift mutation in TWIST1. PLoS One 6:e22242, 2011. Pubmed reference: 21814570. DOI: 10.1371/journal.pone.0022242.|
- Created by Frank Nicholas on 31 Jul 2011
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