title: Coat colour in dogs: identification of the merle locus in the Australian shepherd breed.
abstract: BACKGROUND
  Coat colours in canines have many natural phenotypic variants. Some of the genes and alleles involved also cause genetic developmental defects, which are also observed in humans and mice. We studied the genetic bases of the merle phenotype in dogs to shed light on the pigmentation mechanisms and to identify genes involved in these complex pathways. The merle phenotype includes a lack of eumelanic pigmentation and developmental defects, hearing impairments and microphthalmia. It is similar to that observed in microphthalmia mouse mutants.
  
  
  RESULTS
  Taking advantage of the dog as a powerful genetic model and using recently available genomic resources, we investigated the segregation of the merle phenotype in a five-generation pedigree, comprising 96 sampled Australian shepherd dogs. Genetic linkage analysis allowed us to identify a locus for the merle phenotype, spanning 5.5 megabases, at the centromeric tip of canine chromosome 10 (CFA10). This locus was supported by a Lod score of 15.65 at a recombination fraction theta = 0. Linkage analysis in three other breeds revealed that the same region is linked to the merle phenotype. This region, which is orthologous to human chromosome 12 (HSA12 q13-q14), belongs to a conserved ordered segment in the human and mouse genome and comprises several genes potentially involved in pigmentation and development.
  
  
  CONCLUSIONS
  This study has identified the locus for the merle coat colour in dogs to be at the centromeric end of CFA10. Genetic studies on other breeds segregating the merle phenotype should allow the locus to be defined more accurately with the aim of identifying the gene. This work shows the power of the canine system to search for the genetic bases of mammalian pigmentation and developmental pathways.
authors.affiliation: UMR 6061 CNRS, Génétique et Développement, Faculté de Médecine, Université de Rennes1, 35043 RENNES Cédex, France. benoit.hedan@univ-rennes1.fr
authors.forename: Benoit
authors.initials: B
authors.lastname: Hédan
authors.forename: Sébastien
authors.initials: S
authors.lastname: Corre
authors.forename: Christophe
authors.initials: C
authors.lastname: Hitte
authors.forename: Stéphane
authors.initials: S
authors.lastname: Dréano
authors.forename: Thierry
authors.initials: T
authors.lastname: Vilboux
authors.forename: Thomas
authors.initials: T
authors.lastname: Derrien
authors.forename: Bernard
authors.initials: B
authors.lastname: Denis
authors.forename: Francis
authors.initials: F
authors.lastname: Galibert
authors.forename: Marie-Dominique
authors.initials: MD
authors.lastname: Galibert
authors.forename: Catherine
authors.initials: C
authors.lastname: André