Genetics, Vol. 157, 785-802, February 2001, Copyright © 2001

Genetic Architecture of Mandible Shape in Mice: Effects of Quantitative Trait Loci Analyzed by Geometric Morphometrics

Christian Peter Klingenberga, Larry J. Leamyb, Eric J. Routmanc, and James M. Cheverudd
a Laboratory of Development and Evolution, University Museum of Zoology, Department of Zoology, Cambridge CB2 3EJ, United Kingdom,
b Department of Biology, University of North Carolina, Charlotte, North Carolina 28223,
c Department of Biology, San Francisco State University, San Francisco, California 94132
d Department of Anatomy and Neurobiology, Washington University School of Medicine, Saint Louis, Missouri 63110

Corresponding author: Christian Peter Klingenberg, University Museum of Zoology, Downing St., Cambridge CB2 3EJ, United Kingdom., cpk24{at}cam.ac.uk (E-mail)

Communicating editor: L. PARTRIDGE

This study introduces a new multivariate approach for analyzing the effects of quantitative trait loci (QTL) on shape and demonstrates this method for the mouse mandible. We quantified size and shape with the methods of geometric morphometrics, based on Procrustes superimposition of five morphological landmarks recorded on each mandible. Interval mapping for F2 mice originating from an intercross of the LG/J and SM/J inbred strains revealed 12 QTL for size, 25 QTL for shape, and 5 QTL for left-right asymmetry. Multivariate ordination of QTL effects by principal component analysis identified two recurrent features of shape variation, which involved the positions of the coronoid and angular processes relative to each other and to the rest of the mandible. These patterns are reminiscent of the knockout phenotypes of a number of genes involved in mandible development, although only a few of these are possible candidates for QTL in our study. The variation of shape effects among the QTL showed no evidence of clustering into distinct groups, as would be expected from theories of morphological integration. Further, for most QTL, additive and dominance effects on shape were markedly different, implying overdominance for specific features of shape. We conclude that geometric morphometrics offers a promising new approach to address problems at the interface of evolutionary and developmental genetics.





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