Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies.

Dürig, Nicole; Letko, Anna; Lepori, Vincent; Hadji Rasouliha, Sheida; Loechel, R; Kehl, A; Hytönen, M K; Lohi, H; Mauri, Nico; Dietrich, Sara Joëlle; Wiedmer, Michaela; Drögemüller, Michaela; Jagannathan, Vidhya; Schmutz, S M; Leeb, Tosso (2018). Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies. Animal genetics, 49(4), pp. 284-290. Blackwell 10.1111/age.12660

[img]
Preview
Text
Manuscript_Durig_R1.pdf - Accepted Version
Available under License Publisher holds Copyright.

Download (506kB) | Preview
[img] Text
D-rig_et_al-2018-Animal_Genetics.pdf - Published Version
Restricted to registered users only
Available under License Publisher holds Copyright.

Download (943kB) | Request a copy

Loss-of-function variants in the MC1R gene cause recessive red or yellow coat-colour phenotypes in many species. The canine MC1R:c.916C>T (p.Arg306Ter) variant is widespread and found in a homozygous state in many uniformly yellow- or red-coloured dogs. We investigated cream-coloured Australian Cattle Dogs whose coat colour could not be explained by this variant. A genome-wide association study with 10 cream and 123 red Australian Cattle Dogs confirmed that the cream locus indeed maps to MC1R. Whole-genome sequencing of cream dogs revealed a single nucleotide variant within the MITF binding site of the canine MC1R promoter. We propose to designate the mutant alleles at MC1R:c.916C>T as e1 and at the new promoter variant as e2. Both alleles segregate in the Australian Cattle Dog breed. When we considered both alleles in combination, we observed perfect association between the MC1R genotypes and the cream coat colour phenotype in a cohort of 10 cases and 324 control dogs. Analysis of the MC1R transcript levels in an e /e compound heterozygous dog confirmed that the transcript levels of the e2 allele were markedly reduced with respect to the e1 allele. We further report another MC1R loss-of-function allele in Alaskan and Siberian Huskies caused by a 2-bp deletion in the coding sequence, MC1R:c.816_817delCT. We propose to term this allele e3. Huskies that carry two copies of MC1R loss-of-function alleles have a white coat colour.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Research Foci > DermFocus

UniBE Contributor:

Dürig, Nicole; Letko, Anna; Lepori, Vincent; Hadji Rasouliha, Sheida; Mauri, Nico; Dietrich, Sara Joëlle; Wiedmer, Michaela; Drögemüller, Michaela; Jagannathan, Vidya and Leeb, Tosso

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture
500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

0268-9146

Publisher:

Blackwell

Funders:

Organisations 31003 not found.
[105] Swiss Association for Small Animal Medicine

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

26 Jun 2018 14:52

Last Modified:

23 Jun 2019 02:30

Publisher DOI:

10.1111/age.12660

PubMed ID:

29932470

Uncontrolled Keywords:

Canis lupus familiaris e2 e3 heterogeneity melanocyte non-coding pigmentation transcription

BORIS DOI:

10.7892/boris.117394

URI:

https://boris.unibe.ch/id/eprint/117394

Actions (login required)

Edit item Edit item
Provide Feedback