OMIA 001247-9913 : Spinal dysmyelination in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 182601

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2010

Species-specific name: Bovine spinal dysmyelination; Haplotype BHD

Species-specific symbol: BSD; BHD

Mapping: Nissen et al. (2001) mapped the locus for this disorder to BTA11.

Molecular basis: Thomsen et al. (2010) showed that this disorder is due to a missense mutation (R560Q) at a site that is invariant from insects to mammals in the gene encoding spastin (SPAST or SPG4).

In their table of reduced-fertility haplotypes, Cole et al. (2014) list this SPAST mutation as being the causal mutation for haplotype BHD.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SPAST spastin Bos taurus 11 NC_037338.1 (14696296..14752929) SPAST Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
American Brown Swiss Spinal dysmyelination SPAST missense UMD3.1 11 g.14760164G>A c.1964G>A p.R560Q rs445770480 2010 19714378 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
2018 Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A. :
Screening genetic diseases prevalence in Braunvieh cattle. Trop Anim Health Prod :, 2018. Pubmed reference: 30014197. DOI: 10.1007/s11250-018-1655-y.
2016 Cole, J.B., Null, D.J., VanRaden, P.M. :
Phenotypic and genetic effects of recessive haplotypes on yield, longevity, and fertility. J Dairy Sci 99:7274-88, 2016. Pubmed reference: 27394947. DOI: 10.3168/jds.2015-10777.
2014 Cole, J.B. , VanRaden, P.M., Null, D.J., Hutchison, J.L., Cooper, T.A., Hubbard, S.M. :
Haplotype tests for recessive disorders that affect fertility and other traits. AIP RESEARCH REPORT GENOMIC3 (09-13); http://aipl.arsusda.gov/reference/recessive_haplotypes_ARR-G3.html :, 2014.
2010 Thomsen, B., Nissen, PH., Agerholm, JS., Bendixen, C. :
Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene. Neurogenetics 11:175-183, 2010. Pubmed reference: 19714378. DOI: 10.1007/s10048-009-0214-0.
2009 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.
2003 Nissen, PH., Thomsen, B., Offenberg, H., Thomsen, PD., Bendixen, C. :
Cloning and characterization of the bovine EGR4 gene and evaluation as candidate gene for bovine spinal dysmyelination. Anim Genet 34:124-31, 2003. Pubmed reference: 12648095.
2001 Nissen, P.H., Shukri, N.M., Agerholm, J.S., Fredholm, M., Bendixen, C. :
Genetic mapping of spinal dysmyelination in cross-bred American Brown Swiss cattle to bovine Chromosome 11 Mammalian Genome 12:180-182, 2001. Pubmed reference: 11210192.
1999 Nissen, P.H., Shukri, N.M., Agerholm, J.S., Fredholm, M., Bendixen, C. :
Genetic mapping of spinal dysmyelination in cross-bred American Brown Swiss cattle Archiv fur Tierzucht-Archives of Animal Breeding 42:170-171, 1999.
1996 Stocker, H., Pusterla, J.B., Lutz, H., Ossent, P. :
A new hereditary disease Braunvieh in Switzerland - spinal dysmyelination (sdm) in newborn calves Schweizer Archiv fur Tierheilkunde 138:295-300, 1996. Pubmed reference: 8765544.
1995 Agerholm, J.S., Andersen, O. :
Inheritance of spinal dysmyelination in calves Zentralbl Veterinarmed A. 42:9-12, 1995. Pubmed reference: 8592883.
1994 Agerholm, J.S., Hafner, A., Olsen, S., Dahme, E. :
Spinal dysmyelination in cross-bred Brown Swiss calves Journal of Veterinary Medicine - Series A 41:180-188, 1994. Pubmed reference: 7941834.
1993 Hafner, A., Dahme, E., Obermaier, G., Schmidt, P., Dirksen, G. :
Spinal Dysmyelination in New-Born Brown Swiss x Braunvieh Calves 40:413-422, 1993. Pubmed reference: 8284954.

Edit History


  • Created by Frank Nicholas on 11 Nov 2009
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 31 Oct 2014
  • Changed by Frank Nicholas on 24 Mar 2015