ZFIN ID: ZDB-PUB-120813-6
Variation of BMP3 Contributes to Dog Breed Skull Diversity
Schoenebeck, J.J., Hutchinson, S.A., Byers, A., Beale, H.C., Carrington, B., Faden, D.L., Rimbault, M., Decker, B., Kidd, J.M., Sood, R., Boyko, A.R., Fondon, J.W., Wayne, R.K., Bustamante, C.D., Ciruna, B., and Ostrander, E.A.
Date: 2012
Source: PLoS Genetics   8(8): e1002849 (Journal)
Registered Authors: Ciruna, Brian, Hutchinson, Sarah, Sood, Raman
Keywords: Skull, Pets and companion animals, Quantitative trait loci, Zebrafish, Genome-wide association studies, Dogs, Embryos, Haplotypes
MeSH Terms:
  • Animals
  • Biological Evolution
  • Bone Morphogenetic Protein 3/genetics*
  • Breeding
  • Chromosome Mapping
  • Craniosynostoses/genetics*
  • Dogs/genetics*
  • Genetic Variation*
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Mutation, Missense
  • Pets
  • Phenotype
  • Quantitative Trait Loci*
  • Skull/anatomy & histology
  • Skull/metabolism*
  • Zebrafish/genetics
PubMed: 22876193 Full text @ PLoS Genet.

Since the beginnings of domestication, the craniofacial architecture of the domestic dog has morphed and radiated to human whims. By beginning to define the genetic underpinnings of breed skull shapes, we can elucidate mechanisms of morphological diversification while presenting a framework for understanding human cephalic disorders. Using intrabreed association mapping with museum specimen measurements, we show that skull shape is regulated by at least five quantitative trait loci (QTLs). Our detailed analysis using whole-genome sequencing uncovers a missense mutation in BMP3. Validation studies in zebrafish show that Bmp3 function in cranial development is ancient. Our study reveals the causal variant for a canine QTL contributing to a major morphologic trait.