ArticlePLoS genetics2015
Mapping of Craniofacial Traits in Outbred Mice Identifies Major Developmental Genes Involved in Shape Determination.
Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 2 of them syntheses that pooled it.
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Who cites it
42 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Independent evolution toward larger body size in the distinctive Faroe Island mice.G3 (Bethesda, Md.) · 2021Pooled it
- Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology.PLoS genetics · 2016Pooled it
- Body size and cranial shape differentiation in urban and rural house mice (bioRxiv : the preprint server for biology · 2026Article
- Saturating the eQTL map in Drosophila: Genome-wide patterns of cis and trans regulation of transcriptional variation in outbred populations.Cell genomics · 2025Article
- Evolution of the essential geneProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Effects of diet quality on the musculoskeletal system of the masticatory apparatus in Mus musculus domesticus.The Journal of experimental biology · 2025Article
- Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.Nature communications · 2023Review
- A Novel Pathogenic Variant in theJournal of pediatric genetics · 2023Article
- Review
- Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape.Communications biology · 2023Article
- The association of polymorphisms inSaudi journal of biological sciences · 2022Article
- The genetic basis of neurocranial size and shape across varied lab mouse populations.Journal of anatomy · 2022Article
- A complex genetic architecture underlies mandibular evolution in big mice from Gough Island.Genetics · 2022Article
- Testing the accuracy of 3D automatic landmarking via genome-wide association studies.G3 (Bethesda, Md.) · 2022Article
- Article
- Complex genetic architecture of three-dimensional craniofacial shape variation in domestic pigeons.Evolution & development · 2021Article
- Advances in mouse genetics for the study of human disease.Human molecular genetics · 2021Review
- Variation in Pleiotropic Hub Gene Expression Is Associated with Interspecific Differences in Head Shape and Eye Size in Drosophila.Molecular biology and evolution · 2021Article
- Correlational selection in the age of genomics.Nature ecology & evolution · 2021Review
- A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.Science advances · 2021Article
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Authors and funding
7 authors.
Funding
Abstract
The vertebrate cranium is a prime example of the high evolvability of complex traits. While evidence of genes and developmental pathways underlying craniofacial shape determination is accumulating, we are still far from understanding how such variation at the genetic level is translated into craniofacial shape variation. Here we used 3D geometric morphometrics to map genes involved in shape determination in a population of outbred mice (Carworth Farms White, or CFW). We defined shape traits via principal component analysis of 3D skull and mandible measurements. We mapped genetic loci associated with shape traits at ~80,000 candidate single nucleotide polymorphisms in ~700 male mice. We found that craniofacial shape and size are highly heritable, polygenic traits. Despite the polygenic nature of the traits, we identified 17 loci that explain variation in skull shape, and 8 loci associated with variation in mandible shape. Together, the associated variants account for 11.4% of skull and 4.4% of mandible shape variation, however, the total additive genetic variance associated with phenotypic variation was estimated in ~45%. Candidate genes within the associated loci have known roles in craniofacial development; this includes 6 transcription factors and several regulators of bone developmental pathways. One gene, Mn1, has an unusually large effect on shape variation in our study. A knockout of this gene was previously shown to affect negatively the development of membranous bones of the cranial skeleton, and evolutionary analysis shows that the gene has arisen at the base of the bony vertebrates (Eutelostomi), where the ossified head first appeared. Therefore, Mn1 emerges as a key gene for both skull formation and within-population shape variation. Our study shows that it is possible to identify important developmental genes through genome-wide mapping of high-dimensional shape features in an outbred population.
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