An SNN retrocopy insertion upstream of GPR22 is associated with dark red coat color in Poodles

Kevin Batcher, Scarlett Varney, Verena K. Affolter, Steven G. Friedenberg, Danika Bannasch

Research output: Contribution to journalArticlepeer-review

Abstract

Pigment production and distribution is controlled through multiple genes, resulting in a wide range of coat color phenotypes in dogs. Dogs that produce only the pheomelanin pigment vary in intensity from white to deep red. The Poodle breed has a wide range of officially recognized coat colors, including the pheomelanin-based white, cream, apricot, and red coat colors, which are not fully explained by the previously identified genetic variants involved in pigment intensity. Here, a genome-wide association study for pheomelanin intensity was performed in Poodles which identified an association on canine chromosome 18. Whole-genome sequencing data revealed an SNN retrocopy insertion (SNNL1) in apricot and red Poodles within the associated region on chromosome 18. While equal numbers of melanocytes were observed in all Poodle skin hair bulbs, higher melanin content was observed in the darker Poodles. Several genes involved in melanogenesis were also identified as highly overexpressed in red Poodle skin. The most differentially expressed gene however was GPR22, which was highly expressed in red Poodle skin while unexpressed in white Poodle skin (log2 fold change in expression 6.1, P < 0.001). GPR22 is an orphan G-protein-coupled receptor normally expressed exclusively in the brain and heart. The SNNL1 retrocopy inserted 2.8 kb upstream of GPR22 and is likely disrupting regulation of the gene, resulting in atypical expression in the skin. Thus, we identify the SNNL1 insertion as a candidate variant for the CFA18 pheomelanin intensity locus in red Poodles.

Original languageEnglish (US)
Article numberjkac227
JournalG3: Genes, Genomes, Genetics
Volume12
Issue number11
DOIs
StatePublished - Nov 2022

Bibliographical note

Funding Information:
This work was supported in part by the Poodle Club of America Foundation, Lodric Maddox Graduate Fellowship, and Maxine Adler Endowed Chair funds. Additional financial support was provided by the Students Training in Advanced Research (STAR) Program through a UC Davis School of Veterinary Medicine Endowment Fund.

Funding Information:
The authors thank the Poodle owners for providing samples of their dogs. They also thank Cindy Paul, Lisa Ritson, and Barbara Hoopes for photographs of their Poodles. This work was supported in part by the Poodle Club of America Foundation, Lodric Maddox Graduate Fellowship, and Maxine Adler Endowed Chair funds. Additional financial support was provided by the Students Training in Advanced Research (STAR) Program through a UC Davis School of Veterinary Medicine Endowment Fund.

Publisher Copyright:
© The Author(s) 2022. Published by Oxford University Press on behalf of Genetics Society of America.

Keywords

  • canine
  • coat color
  • dog
  • GWAS
  • inherited
  • pheomelanin
  • retrogene
  • Genome-Wide Association Study
  • Pigmentation/genetics
  • Whole Genome Sequencing
  • Phenotype
  • Animals
  • Dogs

PubMed: MeSH publication types

  • Research Support, Non-U.S. Gov't
  • Journal Article

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