OMIA:001541-9913 : Arachnomelia, MOCS1-related in Bos taurus
Categories: Limbs / digit / tail phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 252150 (trait) , 603707 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2011
Mapping: Buitkamp et al. (2009) mapped this disorder in Simmental cattle to chromosome BTA23. In stark contrast, Drögemüller et al. (2009) mapped the same disorder in Brown-Swiss cattle to chromosome BTA5 (see OMIA 00059). These results suggest the strong possibility of genetic heterogeneity for this disorder in cattle. (With thanks to Johannes Buitkamp). Interestingly, Seichter et al. (2011) mapped this disorder in Fleckvieh cattle to the same region of BTA23 as in Simmental, suggesting that the Fleckvieh mutation may be the same as the Simmental mutation.
Molecular basis: 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.
Prevalence: Hu et al. (2022) genotyped "582 bulls and 1-926 cows from Chinese dual-purpose cattle populations of Simmental, Sanhe, Shuxuan, and Xinjiang Brown" for the "MOCS1 mutation c.1224_1225delCA" (OMIA variant 483) and reported that "The frequencies of . . . carriers [of the variant] were 1.08% and 1.65% in the Simmental and Sanhe populations, respectively"; and zero in the other two samples.
Breed: Simmental (Cattle) (VBO_0000380).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MOCS1||molybdenum cofactor synthesis 1||Bos taurus||23||NC_037350.1 (13870784..13836251)||MOCS1||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|
|483||Simmental (Cattle)||Arachnomelia, BTA23||MOCS1||deletion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||23||g.13837657_13837658del||c.1224_1225del||p.(H408Qfs*51)||220110: changed g.13837654_13837655del to g.13837657_13837658del based on HGVS 3'rule. ENSBTAT00000013792.6:c.1224_1225del ENSBTAP00000013792.5:p.His408GlnfsTer51||rs383500843||rs383500843||2011||21255426||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.|
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||Hu, L., Tian, Y., Chu, Q., Sammad, A., Jiao, S., Huang, X., Xie, Z., Hou, S., Liu, A., Wu, H., Liu, L., Wang, W., Yu, Y., Wang, Y. :|
|Development and application of arachnomelia syndrome genetic detection in four Chinese dual-purpose cattle populations. Res Vet Sci 152:323-332, 2022. Pubmed reference: 36088773 . DOI: 10.1016/j.rvsc.2022.08.009.|
|2013||Chu, Q., Jiao, S.H., Wang, Y.C., Liu, L., Liu, A.R., Wu, H.J., Xie, Z.Q., Hou, S.Y., Geng, F.J., Wang, C.Y., Huang, X.X., Tan, S.X., Tan, R., Zhang, Y., Yu, Y., Zhang, Y. :|
|[Establishment of the detection method for two causative genes of cattle arachnomelia syndrome]. Yi Chuan 35:623-7, 2013. Pubmed reference: 23732669 .|
|Jansen, S., Aigner, B., Pausch, H., Wysocki, M., Eck, S., Benet-Pagès, A., Graf, E., Wieland, T., Strom, T.M., Meitinger, T., Fries, R. :|
|Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage. BMC Genomics 14:446, 2013. Pubmed reference: 23826801 . DOI: 10.1186/1471-2164-14-446.|
|Jiao, S., Chu, Q., Wang, Y., Xie, Z., Hou, S., Liu, A., Wu, H., Liu, L., Geng, F., Wang, C., Qin, C., Tan, R., Huang, X., Tan, S., Wu, M., Xu, X., Liu, X., Yu, Y., Zhang, Y. :|
|Identification of the causative gene for Simmental arachnomelia syndrome using a network-based disease gene prioritization approach. PLoS One 8:e64468, 2013. Pubmed reference: 23696895 . DOI: 10.1371/journal.pone.0064468.|
|2011||Buitkamp, J., Semmer, J., Götz, K.U. :|
|Arachnomelia syndrome in Simmental cattle is caused by a homozygous 2-bp deletion in the molybdenum cofactor synthesis step 1 gene (MOCS1). BMC Genet 12:11, 2011. Pubmed reference: 21255426 . DOI: 10.1186/1471-2156-12-11.|
|Seichter, D., Russ, I., Förster, M., Medugorac, I. :|
|SNP-based association mapping of Arachnomelia in Fleckvieh cattle. Anim Genet 42:544-7, 2011. Pubmed reference: 21906105 . DOI: 10.1111/j.1365-2052.2010.02167.x.|
|2010||Drögemüller, C., Tetens, J., Sigurdsson, S., Gentile, A., Testoni, S., Lindblad-Toh, K., Leeb, T. :|
|Identification of the bovine Arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development. PLoS Genet 6(8):e1001079, 2010. Pubmed reference: 20865119 . DOI: 10.1371/journal.pgen.1001079.|
|2009||Buitkamp, J., Kühn, C., Semmer, J., Götz, K.U. :|
|Assignment of the locus for arachnomelia syndrome to bovine chromosome 23 in Simmental cattle. Anim Genet 40:894-9, 2009. Pubmed reference: 19519792 . DOI: 10.1111/j.1365-2052.2009.01933.x.|
|Drögemüller, C., Rossi, M., Gentile, A., Testoni, S., Jörg, H., Stranzinger, G., Drögemüller, M., Glowatzki-Mullis, M.L., Leeb, T. :|
|Arachnomelia in Brown Swiss cattle maps to chromosome 5. Mamm Genome 20:53-9, 2009. Pubmed reference: 19116736 . DOI: 10.1007/s00335-008-9157-2.|
|2008||Buitkamp, J., Luntz, B., Emmerling, R., Reichenbach, H.D., Weppert, M., Schade, B., Meier, N., Götz, K.U. :|
|Syndrome of arachnomelia in Simmental cattle. BMC Vet Res 4:39, 2008. Pubmed reference: 18828914 . DOI: 10.1186/1746-6148-4-39.|
|1975||Rieck, GW., Schade, W. :|
|[Arachnomelia (spider limbs), a new hereditary fatal malformation syndrome of cattle] Dtsch Tierarztl Wochenschr 82:342-7, 1975. Pubmed reference: 770119 .|
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