Arachnomelia, MOCS1-related

Phene ID

3045

Name

Arachnomelia, MOCS1-related

Phene Name

N/A

OMIA ID

1541

Species ID

9913

Characterised

Yes

Characterised Year

2011

Building on their 2009 mapping results, Buitkamp et al. (2011) showed that this disorder in Simmental cattle is due to a 2-bp deletion in the MOCS1 gene. This gene encodes two peptides (MOCS1A and MOCS1B) via consecutive open reading frames. These two peptides are involved in the synthesis of molybdenum cofactor (Moco), which is involved in the synthesis of sulphite oxidase, the gene for which (SUOX) is the site of the mutation for the same disorder in Brown Swiss cattle (Drögemüller et al., 2010) (see OMIA 000059-9913). Thus we have an excellent example of mutations in two genes involved in the same biochemical pathway giving rise to the same biochemical deficiency and hence the same clinical signs. This is the first example of this type of genetic heterogeneity to be documented in cattle. As stated by Buitkamp et al. (2011), arachnomelia is thus the first example in cattle of an oligogenic disorder. (With thanks to Johannes Buitkamp) In a project involving the whole-genome sequencing (WGS) of 43 Fleckvieh cattle with average coverage 7.46X (range 4.17X to 24.98X), Jansen et al. (2013) identified the same 2bp deletion in a known carrier. Using a "network-based disease gene prioritization approach", Jiao et al. (2013) independently confirmed the same mutation in Simmental cattle.