Genomic amplification of the caprine EDNRA locus might lead to a dose dependent loss of pigmentation

Menzi, Fiona; Keller, Irene; Reber, Irene; Beck, Julia; Brenig, Bertram; Schütz, Ekkehard; Leeb, Tosso; Drögemüller, Cord (2016). Genomic amplification of the caprine EDNRA locus might lead to a dose dependent loss of pigmentation. Scientific Reports, 6, p. 28438. Nature Publishing Group 10.1038/srep28438

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The South African Boer goat displays a characteristic white spotting phenotype, in which the pigment is limited to the head. Exploiting the existing phenotype variation within the breed, we mapped the locus causing this white spotting phenotype to chromosome 17 by genome wide association. Subsequent whole genome sequencing identified a 1 Mb copy number variant (CNV) harboring 5 genes including EDNRA. The analysis of 358 Boer goats revealed 3 alleles with one, two, and three copies of this CNV. The copy number is correlated with the degree of white spotting in goats. We propose a hypothesis that ectopic overexpression of a mutant EDNRA scavenges EDN3 required for EDNRB signaling and normal melanocyte development and thus likely lead to an absence of melanocytes in the non-pigmented body areas of Boer goats. Our findings demonstrate the value of domestic animals as reservoir of unique mutants and for identifying a precisely defined functional CNV.

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)

UniBE Contributor:

Menzi, Fiona; Keller, Irene; Reber, Irene; Leeb, Tosso and Drögemüller, Cord

Subjects:

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

ISSN:

2045-2322

Publisher:

Nature Publishing Group

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

20 Jul 2016 09:59

Last Modified:

26 Jul 2016 03:24

Publisher DOI:

10.1038/srep28438

PubMed ID:

27329507

BORIS DOI:

10.7892/boris.83978

URI:

https://boris.unibe.ch/id/eprint/83978

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