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OMIA 001009-9913 : Hemimelia, tibial in Bos taurus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 275220 (trait) , 605420 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

History: This disorder was first reported (in Galloways) in the UK by Young (1951) and in the USA and Germany by Ojo et a. (1974).

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.

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
764 Shorthorn Tibial hemimelia ALX4 deletion, gross (>20) Naturally occurring variant 15 Deletion of 45,694 bp including exon 1 of ALX4 2012 Reference not in PubMed; see OMIA 001009-9913 for reference details
763 Galloway Tibial hemimelia ALX4 duplication Naturally occurring variant ARS-UCD1.2 15 g.74384916_74384935dup UMD3.1 position is g.75154399_75154418dup. Duplication of 20bp in exon 2 is predicted to result in a frameshift leading to a premature stop codon and truncated protein. 2015 26076463 The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.
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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