OMIA 000246-9913 : Curly hair, karakul-type in Bos taurus |
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Dominant
Considered a defect:
no
Key variant known:
yes
Year key variant first reported:
2014
Inheritance:
Eldridge et al. (1949) tentatively concluded that this trait could be single-locus dominant, but they could not rule out another possibility requiring two loci. Their data justified the tentativeness of their conclusion.
Mapping:
Utilising imputation of sequence variants from the 1000-bull-genome project into each of 3,222 Fleckvieh bulls, each of which had been assessed for the proportion of daughters showing the curly hair trait, Daetwyler et al. (2014) mapped this trait to clusters of keratin genes on chromosomes BTA5 and BTA19.
Molecular basis:
Excluding variants found in breeds that do not show this trait, Daetwyler et al. (2014) narrowed the field down to "a missense mutation in KRT27 (c.276C>G; p.Asn92Lys; g.41636961C>G on BTA19; ss699911276)". Strong supporting evidence of the causality of this mutation was found by studying its presence in numerous bulls of the Montbeliarde breed (in which the trait occurs, and which, like Fleckvieh, derives from the Simmental breed) compared with straight-hair breeds.
Breeds:
Ayrshire,
Fleckvieh,
Montbeliarde.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| KRT27 | keratin 27, type I | Bos taurus | 19 | NC_037346.1 (40982564..40976930) | KRT27 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ayrshire Fleckvieh Montbeliarde | Curly hair, karakul-type | KRT27 | missense | UMD3.1 | 19 | g.41636961C>G | c.276C>G | p.Asn92Lys | rs384881761 | 2014 | 25017103 | Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446 |
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.
| 2014 | Daetwyler, H.D., Capitan, A., Pausch, H., Stothard, P., van Binsbergen, R., Brøndum, R.F., Liao, X., Djari, A., Rodriguez, S.C., Grohs, C., Esquerré, D., Bouchez, O., Rossignol, M.N., Klopp, C., Rocha, D., Fritz, S., Eggen, A., Bowman, P.J., Coote, D., Chamberlain, A.J., Anderson, C., VanTassell, C.P., Hulsegge, I., Goddard, M.E., Guldbrandtsen, B., Lund, M.S., Veerkamp, R.F., Boichard, D.A., Fries, R., Hayes, B.J. : | |
| Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle. Nat Genet 46:858-65, 2014. Pubmed reference: 25017103. DOI: 10.1038/ng.3034. | ||
| 2006 | Martinez, M.L., Machado, M.A., Nascimento, C.S., Silva, M.V., Teodoro, R.L., Furlong, J., Prata, M.C., Campos, A.L., Guimarães, M.F., Azevedo, A.L., Pires, M.F., Verneque, R.S. : | |
| Association of BoLA-DRB3.2 alleles with tick (Boophilus microplus) resistance in cattle. Genet Mol Res 5:513-24, 2006. Pubmed reference: 17117367. | ||
| 1991 | Larsson, B., Jacobsson, S.O., Bengtsson, B., Alenius, S. : | |
| Congenital curly haircoat as a symptom of persistent infection with bovine virus diarrhoea virus in calves. Arch Virol Suppl 3:143-8, 1991. Pubmed reference: 9210935. | ||
| 1949 | Eldridge, F.E., Atkeson, F.W., Ibsen, H.L. : | |
| Inheritance of a karakul-type curliness in the hair of Ayrshire cattle Journal of Heredity 40:205-214, 1949. Pubmed reference: 18137064. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 17 Oct 2011
- Changed by Frank Nicholas on 04 Sep 2014