OMIA:000246-9913 : Curly coat, karakul-type in Bos taurus (taurine cattle) |
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 616676 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2014
Species-specific name: Also known as Curly coat
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.
Braun et al. (2018) reported the same variant as being causal in German Angus cattle.
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Breeds:
Aberdeen-Angus (Cattle) (VBO_0000090),
Ayrshire (Cattle) (VBO_0000120),
Montbéliarde (Cattle) (VBO_0000306),
Simmental (Cattle) (VBO_0000380).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
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
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 777 | Aberdeen-Angus (Cattle) Ayrshire (Cattle) Montbéliarde (Cattle) Simmental (Cattle) | Curly hair, karakul-type | KRT27 | missense | Naturally occurring variant | ARS-UCD1.2 | 19 | g.40982250G>C | c.276C>G | p.(N92K) | rs384881761 | 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 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2019). OMIA:000246-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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 | Braun, M., Reinartz, S., Heppelmann, M., Rehage, J., Sürie, C., Distl, O., Metzger, J. : |
| Curly coat caused by a keratin 27 variant was transmitted from Fleckvieh into German Angus. Anim Genet 49:349-350, 2018. Pubmed reference: 29932459. DOI: 10.1111/age.12669. | |
| 2016 | Leroy, G., Besbes, B., Boettcher, P., Hoffmann, I., Capitan, A., Baumung, R. : |
| Rare phenotypes in domestic animals: unique resources for multiple applications. Anim Genet 47:141-53, 2016. Pubmed reference: 26662214. DOI: 10.1111/age.12393. | |
| 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. | |
| 1964 | Johansson, I. : |
| Reduced phalanges and curly coat. Two mutant characters in Swedish cattle Hereditas 28:278-288, 1964. | |
| 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
- Changed by Frank Nicholas on 02 Mar 2019