OMIA 001593-9913 : Scurs, type 2 in Bos taurus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 101400 (trait) , 601622 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2011

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.

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 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.

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.
2022 Grohs, C., Boussaha, M., Hozé, C., Capitan, A. :
Rare cases of hernia of the linea alba among TWIST1 haploinsufficient Charolais cattle. Anim Genet :, 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.

Edit History


  • Created by Frank Nicholas on 31 Jul 2011
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 14 Jun 2013
  • Changed by Frank Nicholas on 18 Jun 2013
  • Changed by Frank Nicholas on 01 Oct 2015