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

Possibly relevant human trait(s) and/or gene(s) (MIM number): 101400

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

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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.

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
Charolais Scurs, type 2 TWIST1 insertion, small (<=20) UMD3.1 4 g.27855023 c.148_157dup p.A56RfsX87 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

Reference


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