A novel KRT71 variant in curly-coated dogs.

Animals Breeding Dogs / genetics Exons Frameshift Mutation Hair Keratins, Hair-Specific / genetics Phenotype
canine gene hair keratin pelage wavy woolly hair

Journal

Animal genetics
ISSN: 1365-2052
Titre abrégé: Anim Genet
Pays: England
ID NLM: 8605704

Informations de publication

Date de publication:
Feb 2019
Historique:
accepted: 09 10 2018
pubmed: 21 11 2018
medline: 24 4 2019
entrez: 21 11 2018
Statut: ppublish

Résumé

Curly fur is a common phenotype in many dog breeds, known to result from a missense variant (c.451C>T) in exon 2 of the keratin 71 (KRT71) gene. During screening for this variant across various breeds, we found that Curly Coated Retrievers (CCRs) fixed with the trait did not carry the known variant. By analysis of whole-genome sequencing data of one CCR we identified a novel genetic cause for curly fur. We found a novel structural variant in exon 7 of the KRT71 gene (c.1266_1273delinsACA) that was predicted to result in a frameshift and stop loss, therefore significantly affecting the structure of the protein, if translated. The variant was also found at lower frequencies in five other breeds, including Lagotto Romagnolo, Bichon Frise, Spanish Water Dog, Chesapeake Bay Retriever and Irish Terrier. One curly-coated Lagotto carried neither of the two KRT71 variants. These results identify a second variant for curly coat in KRT71 and suggest the existence of additional alleles. This study enables the development of an additional KRT71 gene test for breeders to understand and manage coat types.

Identifiants

DOI: 10.1111/age.12746 PMID: 30456859
pubmed: 30456859
doi: 10.1111/age.12746
doi:

Substances chimiques

Keratins, Hair-Specific 0

Banques de données

GENBANK
['NM_001197029.1', 'NP_001183958.1']

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

101-104

Subventions

Organisme : Academy of Finland
Organisme : Jane and Aatos Erkko Foundation
Organisme : Ella and Georg Ehrnrooth Foundation
Organisme : Wisdom Health
Organisme : Jenny and Antti Wihuri Foundation

Informations de copyright

© 2018 Stichting International Foundation for Animal Genetics.

Auteurs

E Salmela (E)

Department of Veterinary Biosciences, University of Helsinki, P.O. Box 66, 00014, Helsinki, Finland.
Research Programs Unit, Molecular Neurology, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.
The Folkhälsan Institute of Genetics, Haartmaninkatu 8, 00290, Helsinki, Finland.
Department of Biosciences, University of Helsinki, P.O. Box 56, 00014, Helsinki, Finland.

J Niskanen (J)

Department of Veterinary Biosciences, University of Helsinki, P.O. Box 66, 00014, Helsinki, Finland.
Research Programs Unit, Molecular Neurology, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.
The Folkhälsan Institute of Genetics, Haartmaninkatu 8, 00290, Helsinki, Finland.

M Arumilli (M)

Department of Veterinary Biosciences, University of Helsinki, P.O. Box 66, 00014, Helsinki, Finland.
Research Programs Unit, Molecular Neurology, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.
The Folkhälsan Institute of Genetics, Haartmaninkatu 8, 00290, Helsinki, Finland.

J Donner (J)

Genoscoper Laboratories Oy, Biomedicum Helsinki 2U, Tukholmankatu 8, 00290, Helsinki, Finland.

H Lohi (H)

Department of Veterinary Biosciences, University of Helsinki, P.O. Box 66, 00014, Helsinki, Finland.
Research Programs Unit, Molecular Neurology, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.
The Folkhälsan Institute of Genetics, Haartmaninkatu 8, 00290, Helsinki, Finland.

M K Hytönen (MK)

Department of Veterinary Biosciences, University of Helsinki, P.O. Box 66, 00014, Helsinki, Finland.
Research Programs Unit, Molecular Neurology, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.
The Folkhälsan Institute of Genetics, Haartmaninkatu 8, 00290, Helsinki, Finland.
ORCID: 0000-0003-1976-5874

Articles similaires

Evaluating the efficacy of telesurgery with dual console SSI Mantra Surgical Robotic System: experiment on animal model and clinical trials.

Sudhir Prem Srivastava, Vishwajyoti Pascual Srivastava, Avinesh Singh et al.
1.00
Robotic Surgical Procedures Animals Humans Telemedicine Models, Animal

Odour generalisation and detection dog training.

Lyn Caldicott, Thomas W Pike, Helen E Zulch et al.
1.00
Animals Odorants Dogs Generalization, Psychological Smell

FBXO22 inhibits colitis and colorectal carcinogenesis by regulating the degradation of the S2448-phosphorylated form of mTOR.

Minle Li, Xuan Chen, Pengfei Qu et al.
1.00
Animals TOR Serine-Threonine Kinases Colorectal Neoplasms Colitis Mice

Use of organic material provided by an automatic enrichment device by weaner pigs and its influence on tail lesions.

Philipp Heseker, Jeanette Probst, Stefanie Ammer et al.
1.00
Animals Tail Swine Behavior, Animal Animal Husbandry

Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › A novel KRT71 variant in curly-coated dogs.
questionsmedicales.fr › Phénomènes génétiques › Sélection › A novel KRT71 variant in curly-coated dogs.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Carnivora › Pinnipedia › Canidae › Chiens › A novel KRT71 variant in curly-coated dogs.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Exons › A novel KRT71 variant in curly-coated dogs.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation avec décalage du cadre de lecture › A novel KRT71 variant in curly-coated dogs.
questionsmedicales.fr › Système tégumentaire › Poils › A novel KRT71 variant in curly-coated dogs.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Scléroprotéines › Kératines › Kératines spécifiques du cheveu › A novel KRT71 variant in curly-coated dogs.
questionsmedicales.fr › Phénomènes génétiques › Phénotype › A novel KRT71 variant in curly-coated dogs.