OMIA:000059-9913 : Arachnomelia, SUOX-related in Bos taurus (taurine cattle)
Categories: Skeleton phene (incl. short stature & teeth)
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: 2010
History: The paper by Drögemüller et al. (2010) appears to be the first publication to report the use of sequence-capture of a candidate region followed by resequencing to identify the molecular basis of a disorder in domestic animals.
Mapping: Drögemüller et al. (2009) mapped this disorder in Brown Swiss cattle to a 7 Mb region on chromosome BTA5. In stark contrast, Buitkamp et al. (2009) demonstrated that a locus for a similar defect in Simmental cattle maps to BTA23 (see OMIA 001541). (With thanks to Tosso Leeb). These results suggested the strong possibility of genetic heterogeneity for this disorder in cattle.
In the course of their large-scale study of BovineSNP50 BeadChip haplotypes that are common but never homozygous, VanRaden et al. (2011) confirmed the mapping of this disorder to BTA5, at 62 Mb, in Brown Swiss cattle (UMD 3.0 genome assembly).
Molecular basis: Having a good idea of the map location of the gene responsible for this disorder in Brown Swiss cattle, Drögemüller et al. (2010) used sequence capture followed by resequencing to identify a single base insertion in the gene for sulfite oxidase (SUOX) as being causative for this disorder in this breed. The synthesis of sulfite oxidase is dependent upon molybdenum cofactor (Moco), whose synthesis is dependent upon two peptides (MOCS1A and MOCS1B) that are encoded (via consecutive reading frames) by the gene MOCS1. Consistent with their mapping results, Buitkamp et al. (2011) have shown that arachnomelia in Simmental cattle is due to a 2-bp deletion in the MOCS1 gene (see OMIA 001541). 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.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Drögemüller et al. (2010) summarized the clinical features: "Arachnomelia is a genetic disease in cattle characterized by skeletal abnormalities. Affected calves are usually stillborn with a spidery appearance and an abnormally shaped skull. The bones of the limbs are prolonged (dolichostenomelia) with marked thinning of the diaphyses that fracture easily in the course of forced birth assistance. Additional dysmorphic features are variable, e.g. defects of the vertebral column and sometimes cardiac malformations."
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 "c.363_364insG mutation in the SUOX gene" (OMIA variant 587) and reported that this variant was absent from all four samples.
Brown Swiss (Cattle) (VBO_0000166).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SUOX||sulfite oxidase||Bos taurus||5||NC_037332.1 (57319251..57314956)||SUOX||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|
|587||Brown Swiss (Cattle)||Arachnomelia, BTA5||SUOX||insertion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||5||g.57316723_57316724insG||c.363_364insG||p.(A124Gfs*42)||2010||20865119||Variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)|
Cite this entry
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.|
|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.|
|VanRaden, P.M., Olson, K.M., Null, D.J., Hutchison, J.L. :|
|Harmful recessive effects on fertility detected by absence of homozygous haplotypes. J Dairy Sci 94:6153-61, 2011. Pubmed reference: 22118103. DOI: 10.3168/jds.2011-4624.|
|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.|
|Manatrinon, S., Egger-Danner, C., Baumung, R. :|
|Estimating lethal allele frequencies in complex pedigrees via gene dropping approach using the example of Brown Swiss cattle Archiv fur Tierzucht 52:230-242, 2009.|
|2004||Testoni, S., Gentile, A. :|
|Arachnomelia in four Italian brown calves. Vet Rec 155:372, 2004. Pubmed reference: 15493608.|
|1994||Lidauer, M., Essl, A. :|
|Estimation of the frequencies for recessive lethal genes for spinal muscular atrophy, arachnomelia and weaver in the Austrian Braunvieh population. Züchtungskunde 66:54-65, 1994.|
|1987||König, H., Galliard, C., Chavaz, J., Hunziker, F., Tontis, A. :|
|Prüfung von Schweizer Braunvieh-Bullen auf das vererbte Syndrom der Arachnomelie und Arthrogrypose (SAA) durch Untersuchung der Nachkommen im Fetalstadium [Examination of Brown Swiss bulls for the inherited syndrome of arthrogryposis and Arachnomelie (SAA) by examining the offspring in the fetal stage] Tierärztl Umsch 42:692-697, 1987.|
|1984||Brem, G., Wanke, R., Hondele, J., Dahme, E. :|
|[Occurrence of the arachnomelia syndrome in Bavarian Brown-Swiss x Braunvieh breed population] Berl Munch Tierarztl Wochenschr 97:393-7, 1984. Pubmed reference: 6525153.|
|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.|
- Created by Frank Nicholas on 04 Feb 2011
- Changed by Frank Nicholas on 03 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 12 Jun 2013
- Changed by Frank Nicholas on 30 Dec 2013
- Changed by Tosso Leeb on 26 May 2020
- Changed by Frank Nicholas on 14 Sep 2022