OMIA 001009-9913 : Tibial hemimelia in Bos taurus |
In the 1970s, the Galloway Cattle Society in Great Britain instigated what became a text-book example of how to control a single-locus disorder for which there was (at that time) no blood-based genotype test (Nicholas, 1987). The control programme comprised:
1. Maintaining a register of carriers, i.e. bulls and cows that had produced at least one affected calf
2. An insurance scheme, in which the purchaser of a young bull at any official breed society sale was insured against that young bull throwing affected offspring within 21 months following the sale (9 months gestation and 12 months use). It was compulsory for all younf bulls sold at official sales to be insured, the vendor being obliged to pay the premium.
3. Maintaining a test herd of known carrier cows, through which young bulls could be progeny-tested for this disorder. The effectiveness of this progeny-testing was enhanced by the use of early pregnancy termination, made feasible by the disorder being visible in 90-day embryos (Pollock et al., 1979).
Mapping: Chromosome BTA15 Molecular basis: Deletion: around 45,694 bp including exon 1 of ALX4 of Shorthorns (Beever and Marron, 2012)Duplication: 20bp duplication in exon 2 of ALX4 of Galloways; g.75154399_75154418dup (AC_000172; UMD3.1), creating a frameshift (Brenig et al., 2015)
Genetic testing: A DNA test for this disorder in Shorthorns was described in 2006 in a patent published in 2012 (Beever and Marron, 2012). Breeds: Bunaji, Galloway, Shorthorn. Associated gene:| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ALX4 | ALX homeobox 4 | Bos taurus | 15 | NC_037342.1 (74417594..74373004) | ALX4 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Shorthorn | Tibial hemimelia | ALX4 | deletion, gross (>20) | Deletion of 45,694 bp including exon 1 of ALX4 | 2012 | Reference not in PubMed; see OMIA 001009-9913 for reference details | ||||||||
| Galloway | Tibial hemimelia | ALX4 | duplication | AC_000172; UMD3.1 | g.75154399_75154418dup | 2015 | 26076463 |
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.
| 2015 | Brenig, B., Schütz, E., Hardt, M., Scheuermann, P., Freick, M. : | |
| A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle. PLoS One 10:e0129208, 2015. Pubmed reference: 26076463. DOI: 10.1371/journal.pone.0129208. | ||
| 2012 | Beever, J.E., Marron, B.M. : | |
| Screening for the genetic defect causing tibial hemimelia in bovines. US Patent 8158356 B2 :, 2012. | ||
| 2008 | Whitlock, BK., Kaiser, L., Maxwell, HS. : | |
| Heritable bovine fetal abnormalities. Theriogenology 70:535-49, 2008. Pubmed reference: 18514810. DOI: 10.1016/j.theriogenology.2008.04.016. | ||
| 2005 | Marron, B.M., Thurnau, G., Hannon, C.P., Beever, J.E. : | |
| Mapping Of The Locus Causing Tibial hemimelia (TH) In Shorthorn Cattle Plant & Animal Genomes XIII Conference :P534, 2005. | ||
| 2000 | Lapointe, J.M., Lachance, S., Steffen, D.J. : | |
| Tibial hemimelia, meningocele, and abdominal hernia in Shorthorn cattle Veterinary Pathology 37:508-511, 2000. Pubmed reference: 11055885. | ||
| 1987 | Nicholas, F.W. : | |
| Veterinary Genetics. Oxford University Press, Oxford :, 1987. | ||
| 1982 | Salako, MA., Abdullahi, US. : | |
| Tibial hemimelia in a Bunaji calf. Vet Rec 110:430, 1982. Pubmed reference: 7090160. | ||
| 1979 | Pollock, DL., Fitzsimons, J., Deas, WD., Fraser, JA. : | |
| Pregnancy termination in the control of the tibial hemimelia syndrome in Galloway cattle. Vet Rec 104:258-60, 1979. Pubmed reference: 473505. | ||
| 1978 | Leipold, H.W., Saperstein, G., Swanson, R., Guffy, M.M., Schalles, R. : | |
| Inheritance of tibial hemimelia in galloway cattle Zeitschrift fuer Tierzuechtung und Zuechtungsbiologie 94:291-295, 1978. | ||
| 1977 | Guffy, M.M., Leipold, H.N. : | |
| Radiological diagnosis of economically important genetic defects in cattle Journal of the American Veterinary Radiology Society 18:109-116, 1977. | ||
| Leipold, H.W., Guffy, M.M., Cook, J.E. : | ||
| Tibial hemimelia in Galloway cattle Comparative Pathology Bulletin 9:2-, 1977. | ||
| 1976 | Young, G.B. : | |
| Some genetic defects in British livestock and their control Animal Breeding Research Organisation. Annual Report :31-35, 1976. | ||
| 1974 | Ojo, SA., Guffy, MM., Saperstein, G., Leipold, HW. : | |
| Tibial hemimelia in Galloway calves. J Am Vet Med Assoc 165:548-50, 1974. Pubmed reference: 4416648. | ||
| 1951 | Young, GB. : | |
| A case of tibial hemimelia in cattle. Br Vet J 107:23-8, 1951. Pubmed reference: 14812141. |
Edit History
- Created by Frank Nicholas on 30 Mar 2011
- Changed by Frank Nicholas on 15 Aug 2012
- Changed by Frank Nicholas on 21 Jun 2015