The brown coat colour of Coppernecked goats is associated with a non-synonymous variant at the TYRP1 locus on chromosome 8

Becker, Doreen; Otto, Mandy; Ammann, P; Keller, Irene; Drögemüller, Cord; Leeb, Tosso (2014). The brown coat colour of Coppernecked goats is associated with a non-synonymous variant at the TYRP1 locus on chromosome 8. Animal genetics, 46(1), pp. 50-54. Blackwell 10.1111/age.12240

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The recent development of a goat SNP genotyping microarray enables genome-wide association studies in this important livestock species. We investigated the genetic basis of the black and brown coat colour in Valais Blacknecked and Coppernecked goats. A genome-wide association analysis using goat SNP50 BeadChip genotypes of 22 cases and 23 controls allowed us to map the locus for the brown coat colour to goat chromosome 8. The TYRP1 gene is located within the associated chromosomal region, and TYRP1 variants cause similar coat colour phenotypes in different species. We thus considered TYRP1 as a strong positional and functional candidate. We resequenced the caprine TYRP1 gene by Sanger and Illumina sequencing and identified two non-synonymous variants, p.Ile478Thr and p.Gly496Asp, that might have a functional impact on the TYRP1 protein. However, based on the obtained pedigree and genotype data, the brown coat colour in these goats is not due to a single recessive loss-of-function allele. Surprisingly, the genotype distribution and the pedigree data suggest that the (496) Asp allele might possibly act in a dominant manner. The (496) Asp allele was present in 77 of 81 investigated Coppernecked goats and did not occur in black goats. This strongly suggests heterogeneity underlying the brown coat colour in Coppernecked goats. Functional experiments or targeted matings will be required to verify the unexpected preliminary findings.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Research Foci > DermFocus
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR)
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)
08 Faculty of Science > Department of Biology > Bioinformatics

UniBE Contributor:

Becker, Doreen; Otto, Mandy; Keller, Irene; Drögemüller, Cord and Leeb, Tosso

Subjects:

600 Technology > 630 Agriculture
500 Science > 590 Animals (Zoology)
600 Technology > 610 Medicine & health

ISSN:

0268-9146

Publisher:

Blackwell

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

29 Jan 2015 10:22

Last Modified:

12 Oct 2015 15:21

Publisher DOI:

10.1111/age.12240

PubMed ID:

25392961

Uncontrolled Keywords:

Capra hircus, dominant, genetic heterogeneity, genome-wide association study

BORIS DOI:

10.7892/boris.62429

URI:

https://boris.unibe.ch/id/eprint/62429

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