OMIA:002114-9913 : Hypotrichosis, KRT71-related in Bos taurus (taurine cattle) |
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 615896 (trait) , 608245 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2010
Mapping: Jacinto et al. (2021): "A genome-wide association study revealed an association signal on chromosome 5. Homozygosity mapping in a subset of cases refined the HY locus to a 690 kb critical interval encompassing a cluster of type II keratin encoding genes."
Molecular basis: Jacinto et al. (2021): "Protein-coding exons of six positional candidate genes with known hair or hair follicle function were re-sequenced. This revealed a protein-changing variant in the KRT71 gene that encodes a type II keratin specifically expressed in the IRS of the hair follicle (c.281delTGTGCCCA; p.Met94AsnfsX14)." This variant was previously reported by Markey et al. (2010).
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Jacinto et al. (2021): "Affected calves showed a very short, fine, wooly, kinky and curly coat over all parts of the body, with a major expression in the ears, the inner part of the limbs, and in the thoracic-abdominal region."
Pathology: Jacinto et al. (2021): "Histopathology showed a severely altered morphology of the inner root sheath (IRS) of the hair follicle with abnormal Huxley and Henle's layers and severely dysplastic hair shafts."
Breed:
Hereford (Cattle) (VBO_0000232).
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 |
|---|---|---|---|---|---|---|
| KRT71 | keratin 71, type II | Bos taurus | 5 | NC_037332.1 (27330888..27339248) | KRT71 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1337 | Hereford (Cattle) | Hypotrichosis, KRT71-related | KRT71 | deletion, small (<=20) | Naturally occurring variant | ARS-UCD1.2 | 5 | g.27331221_27331228del | c.281_288del | p.(M94Nfs*14) | cDNA and protein positions based on NM_001075970.1 and NP_001069438.1, respectively | 2021 | 34356054 | 210909: FN checked the ARS-UCD1.2 assembly, and discovered that the deletion spans 27331221 to 27331228. Thus g.27331221delTGTGCCCA was changed to g.27331221_27331228del. From NCBI's genome browser, worked out that the c. notation needs to be changed from c.281delTGTGCCCA to c.281_288del. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002114-9913: 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.
| 2021 | Jacinto, J.G.P., Markey, A.D., Veiga, I.M.B., Paris, J.M., Welle, M., Beever, J.E., Drögemüller, C. : |
| A KRT71 loss-of-function variant results in inner root sheath dysplasia and recessive congenital hypotrichosis of Hereford cattle. Genes (Basel) 12:1038, 2021. Pubmed reference: 34356054. DOI: 10.3390/genes12071038. | |
| Konovalova, E., Romanenkova, O., Kostyunina, O., Gladyr, E. : | |
| The molecular bases study of the inherited diseases for the health maintenance of the beef cattle. Genes (Basel) 12:678, 2021. Pubmed reference: 33946496. DOI: 10.3390/genes12050678. | |
| 2020 | Konovalova, EN., Romanenkova, OS., Volkova, VV., Kostyunina, OV. : |
| DNA analysis of the Russian populations of Aberdeen Angus, Hereford and Belgian Blue cattle Arch Anim Breed 63:409-416, 2020. DOI: 10.5194/aab-63-409-2020. | |
| 2016 | McClure, M.C., McClure, J. : |
| Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition) https://www.icbf.com/wp/?page_id=2170 , 2016. | |
| 2010 | Markey, A.D., Taylor, J.F., Schnabel, R.D., McKay, S.D., McClure, M.C., Beever, J.E.. : |
| A deletion mutation in Krt71 is associated with congenital hypotrichosis in Hereford cattle. Plant & Animal Genomes XVIII Conference, San Diego, 9-13 January 2010 :552, 2010. |
Edit History
- Created by Frank Nicholas on 21 Jul 2017
- Changed by Frank Nicholas on 15 May 2020
- Changed by Imke Tammen2 on 13 Apr 2021
- Changed by Imke Tammen2 on 13 Aug 2021