OMIA 002114-9913 : Hypotrichosis, KRT71-related in Bos taurus
|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|
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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||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.|
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.|
- 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