OMIA 000059-9913 : Arachnomelia, BTA5 in Bos taurus

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 Drogemuller 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: Drogemuller et al. (2009) mapped this disorder in Brown Swiss cattle to a 7Mb 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 62Mb, 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, Drogemuller 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. (With thanks to Tosso Leeb). 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.

Breed: Brown Swiss.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SUOX sulfite oxidase Bos taurus 5 NC_037332.1 (57319225..57314956) SUOX Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
Brown Swiss Arachnomelia, BTA5 SUOX insertion, small (<=20) UMD3.1 5 g.57641332-57641333insG c.363-364insG p.Ala124GlyfsX42 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)

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.
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 Zuchtungskunde 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.

Edit History


  • 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