Abstract

Dogs exhibit a wide variety of coat color types, and many genes have been identified that control pigment production, appearance, and distribution. Some breeds, such as the Nova Scotia Duck Tolling Retriever (NSDTR), exhibit variation in pheomelanin pigment intensity that is not explained by known genetic variants. A genome-wide association study comparing light red to dark red in the NSDTR identified a significantly associated region on canine chromosome 15 (CFA 15:23 Mb–38 Mb). Coverage analysis of whole genome sequence data from eight dogs identified a 6 kb copy number variant (CNV) 152 kb upstream of KITLG. Genotyping with digital droplet PCR (ddPCR) confirmed a significant association between an increased copy number with the dark-red coat color in NSDTR (p = 6.1 × 10−7). The copy number of the CNV was also significantly associated with coat color variation in both eumelanin and pheomelanin-based Poodles (p = 1.5 × 10−8, 4.0 × 10−9) and across other breeds. Moreover, the copy number correlated with pigment intensity along the hair shaft in both pheomelanin and eumelanin coats. KITLG plays an important role in melanogenesis, and variants upstream of KITLG have been associated with coat color variation in mice as well as hair color in humans consistent with its role in the domestic dog.

Highlights

  • The dog, Canis familaris, was domesticated from wolves (Canis lupus), the exact time and place are still under scientific debate [1,2,3,4]

  • The Nova Scotia Duck Tolling Retriever (NSDTR) breed comes in a spectrum of coat colors ranging from a light golden red to a dark coppery red and

  • None of the previously identified canine coat color variants explain with this phenotypic variation

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Summary

Introduction

The dog, Canis familaris, was domesticated from wolves (Canis lupus), the exact time and place are still under scientific debate [1,2,3,4]. A black coat color variant was introduced into wolves from dogs, potentially providing an advantage for hunting at night [5]. Color variants that lighten or darken the coat have been identified as early as 10,000 years ago in archeological dog samples, indicating that color variation existed early in the history of dogs [6]. In the mid-16th century, paintings depicting dogs show the richness of coat colors that had been developed within domesticated dogs by that time. One example of this is “The Hunters in the Snow” by Pieter Bruegel the Elder (1565), which shows rich red-, brown-, and black-pigmented hunting dogs.

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