OMIA 001541-9913 : Arachnomelia, BTA23 in Bos taurus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 252150 , 603707

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.

Breeds: Fleckvieh, Simmental.

Associated gene:

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

Variants

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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
Fleckvieh Simmental Arachnomelia, BTA23 MOCS1 deletion, small (<=20) UMD3.1 23 g.13833868_13833869delCA c.1224_1225delCA rs3835008433 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

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.
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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  • Created by Frank Nicholas on 04 Feb 2011
  • Changed by Frank Nicholas on 15 Sep 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 01 Nov 2013
  • Changed by Frank Nicholas on 30 Dec 2013