OMIA 000939-9913 : Spinal muscular atrophy in Bos taurus |
In other species:
dog
,
domestic cat
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
253300
,
253550
,
253400
,
271150
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2007
Species-specific name:
Haplotype BHM
Species-specific symbol:
BHM
Mapping:
Medugorac et al. (2003) reported "the localization of the gene causing bovSMA within a genomic interval between the microsatellite marker URB031 and the telomeric end of bovine Chromosome (Chr) 24 (BTA24)"
Krebs et al. (2006) refined the mapping "to an interval of approximately 0.8 cM at the very distal end of BTA24". Krebs et al. (2007) narrowed the location to a region containing three comparative positional candidate genes.
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 BTA24 at 58-63Mb (UMD 3.0 genome assembly).
Molecular basis: By examining three comparative positional candidate genes from their mapping results (see Mapping section), Krebs et al. (2007) reported strong evidence that this disorder in cattle is due to a mutation in "FVT1, encoding 3-ketodihydrosphingosine reductase, which catalyzes a crucial step in the glycosphingolipid metabolism". Specifically, the mutation is "a G-to-A missense mutation that changes Ala-175 to Thr". Interestingly, the FVT1 gene, officially known as KDSR, is not included in the list of genes in which mutations result in SMA in humans.In their table of reduced-fertility haplotypes, Cole et al. (2014) list this KDSR mutation as being the causal mutation for haplotype BHM, which is located at 62,118,139– 62,156,760bp on chromosome BTA24.
Cagnotti et al. (2020) reported that this same disorder in an Italian family of the Blonde d'Aquitaine breed is not due to any mutation in FVT1/KDSR.
Associated gene:| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| KDSR | 3-ketodihydrosphingosine reductase | Bos taurus | 24 | NC_037351.1 (61638744..61596078) | KDSR | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Braunvieh | Spinal muscular atrophy | KDSR | missense | UMD3.1 | 24 | g.62138763G>A | c.562G>A | p.A188T | 2007 | 17420465 | 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.
| 2020 | Cagnotti, G., Cantile, C., Chessa, S., Sacchi, P., D'Angelo, A., Bellino, C. : | |
| Spinal Muscular Atrophy in Blonde D'Aquitaine Calves Is Not Associated With FVT1 Gene Mutation. Front Vet Sci 7:348, 2020. Pubmed reference: 32714947. DOI: 10.3389/fvets.2020.00348. | ||
| 2019 | Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A., 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 51:25-31, 2019. 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. | ||
| 2011 | 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. | ||
| 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. | ||
| 2008 | Parkinson, NJ., Baumer, D., Rose-Morris, A., Talbot, K. : | |
| Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders. Neuromuscular Disorders 18:394-7, 2008. Pubmed reference: 18395445. DOI: 10.1016/j.nmd.2008.03.003. | ||
| 2007 | Krebs, S., Medugorac, I., Röther, S., Strässer, K., Förster, M. : | |
| A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy. Proc Natl Acad Sci U S A 104:6746-51, 2007. Pubmed reference: 17420465. DOI: 10.1073/pnas.0607721104. | ||
| 2006 | Krebs, S., Medugorac, I., Russ, I., Ossent, P., Bleul, U., Schmahl, W., Forster, M. : | |
| Fine-mapping and candidate gene analysis of bovine spinal muscular atrophy. Mamm Genome 17:67-76, 2006. Pubmed reference: 16416092. DOI: 10.1007/s00335-005-0102-3. | ||
| 2005 | Joerg, H., Muntwyler, J., Glowatzki-Mullis, ML., Ahrens, E., Asai-Coakwell, M., Stranzinger, G. : | |
| Bovine spinal muscular atrophy: AFG3L2 is not a positional candidate gene. J Anim Breed Genet 122 Suppl 1:103-7, 2005. Pubmed reference: 16130464. | ||
| 2003 | Longeri, M., Perrone, T., Bongioni, G., Bona, M., Zanotti, M., Galli, A. : | |
| Survival motor neuron (SMN) polymorphism in relation to congenital arthrogryposis in two Piedmont calves (piemontese) Genetics Selection Evolution 35:S167-75, 2003. | ||
| Medugorac, I., Kemter, J., Russ, I., Pietrowski, D., Nüske, S., Reichenbach, H.D., Schmahl, W., Förster, M. : | ||
| Mapping of the bovine spinal muscular atrophy locus to Chromosome 24. Mamm Genome 14:383-91, 2003. Pubmed reference: 12879360. DOI: 10.1007/s00335-002-3024-3. | ||
| Siso, S., Pumarola, M., Ferrer, I. : | ||
| Cell death and decreased synaptic protein expression in the ventral horn of Holstein-Friesian calves with spinal muscular atrophy Journal of Comparative Pathology 128:132-9, 2003. Pubmed reference: 12634090. | ||
| 1999 | Jull, B.A., Patton, C.S., Haffner, J. : | |
| Lower motor neuronopathy in a Dutch Belted-Sembra bull Journal of Veterinary Diagnostic Investigation 11:177-179, 1999. Pubmed reference: 10098692. | ||
| Winter, P., Bago, Z., Podstatzky, L., Speckbacher, G. : | ||
| Spinal muscular atrophy in a Brown-Swiss calf - a case report [German] Wiener Tierarztliche Monatsschrift 86:83-87, 1999. | ||
| 1994 | Agerholm, J.S., Basse, A. : | |
| Spinal Muscular Atrophy in Calves of the Red Danish Dairy Breed Veterinary Record 134:232-235, 1994. Pubmed reference: 8197680. | ||
| 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. | ||
| 1993 | Agerholm, J.S., Basse, A., Christensen, K. : | |
| Investigations on the occurrence of hereditary diseases in the Danish cattle population 1989-1991 Acta Veterinaria Scandinavica 34:245-253, 1993. Pubmed reference: 8310897. | ||
| Hiraga, T., Leipold, H.W., Cash, W.C., Troyer, D.L. : | ||
| Reduced Numbers and Intense Anti-Ubiquitin Immunostaining of Bovine Motor Neurons Affected with Spinal Muscular Atrophy Journal of the Neurological Sciences 118:43-47, 1993. Pubmed reference: 7693876. | ||
| Hiraga, T., Leipold, H.W., Vestweber, J.G.E., Cash, W.C., Troyer, D.L. : | ||
| Cytoskeletal Proteins in Affected Motor Neurons in Bovine Spinal Muscular Atrophy Progress in Veterinary Neurology 4:137-142, 1993. | ||
| Troyer, D., Cash, W.C., Vestweber, J., Hiraga, T., Leipold, H.W. : | ||
| Review of Spinal Muscular Atrophy (SMA) in Brown Swiss Cattle Journal of Veterinary Diagnostic Investigation 5:303-306, 1993. Pubmed reference: 8507715. | ||
| 1992 | Dirksen, G., Doll, K., Hafner, A., Hermanns, W., Dahme, E. : | |
| Spinal Muscular Atrophy (SMA) in Calves of Brown Swiss X Deutsches Braunvieh Deutsche Tierarztliche Wochenschrift 99:165-175, 1992. Pubmed reference: 1638959. | ||
| Stocker, H., Ossent, P., Heckmann, R., Oertle, C. : | ||
| Spinal Muscular Atrophy in Brown Swiss Calves Schweizer Archiv Fur Tierheilkunde 134:97-104, 1992. Pubmed reference: 1566027. | ||
| Troyer, D., Leipold, H.W., Cash, W., Vestweber, J. : | ||
| Upper Motor Neurone and Descending Tract Pathology in Bovine Spinal Muscular Atrophy Journal of Comparative Pathology 107:305-317, 1992. Pubmed reference: 1469126. | ||
| 1990 | Nielsen, J.S., Andresen, E., Basse, A., Christensen, L.G., Lykke, T., Nielsen, U.S. : | |
| Inheritance of Bovine Spinal Muscular Atrophy Acta Veterinaria Scandinavica 31:253-255, 1990. Pubmed reference: 2260520. | ||
| 1989 | Elhamidi, M., Leipold, H.W., Vestweber, J.G.E., Saperstein, G. : | |
| Spinal Muscular Atrophy in Brown Swiss Calves Journal of Veterinary Medicine Series A-Animal Physiology Pathology and Clinical Veterinary Medicine-Zentralblatt Fur Veterinarmedizin Reihe a 36:731-738, 1989. | ||
| 1988 | Hansen, KM., Krogh, HV., Møller, JE., Elleby, F. : | |
| The recumbent calf syndrome in the Red Danish Milkbreed - A new hereditary disease (in Danish) Dansk VetTidskr. 71:128-132, 1988. |
Edit History
- Created by Frank Nicholas on 08 Sep 2008
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 12 Jun 2013
- Changed by Frank Nicholas on 31 Oct 2014
- Changed by Frank Nicholas on 24 Mar 2015
- Changed by Frank Nicholas on 15 Aug 2016
- Changed by Frank Nicholas on 05 Aug 2020