Mouse models and the evolutionary developmental biology of the skull

Hallgrímsson, Benedikt; Lieberman, Daniel E.

doi:10.1093/icb/icn076

Cited by 85 publications

(102 citation statements)

References 45 publications

(61 reference statements)

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“…Within ontogenetic series, the percentage of shape variation related to size was also lower than for the face and vault, although it was significant in the regression model between the principal components and centroid size (Table 4). Differences between cranial modules are expected because complex morphological structures are not only controlled by common developmental processes, such as somatic growth, but also by local processes (Hallgrímsson and Lieberman, 2008;Mitteroecker and Bookstein, 2008). In this sense, the three cranial components differ in their embryological origin, mode of ossification and pattern of growth (Morriss-Kay, 2001;McBratney-Owen et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

Ontogenetic Allometry and Cranial Shape Diversification Among Human Populations From South America

González

Pérez

Bernal

2011

The Anatomical Record

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Modifications of ontogenetic allometries play an important role in patterning the shape differentiation among populations. This study evaluates the influence of size variation on craniofacial shape disparity among human populations from South America and assesses whether the morphological disparity observed at the interpopulation level resulted from a variable extension of the same ontogenetic allometry, or whether it arose as a result of divergences in the pattern of size-related shape changes. The size and shape of 282 adult and subadult crania were described by geometric morphometric-based techniques. Multivariate regressions were used to evaluate the influence of size on shape differentiation between and within populations, and phylogenetic comparative methods were used to take into account the shared evolutionary history among populations. The phylogenetic generalized least-squares models showed that size accounts for a significant amount of shape variation among populations for the vault and face but not for the base, suggesting that the three modules did not exhibit a uniform response to changes in overall growth. The common slope test indicated that patterns of evolutionary and ontogenetic allometry for the vault and face were similar and characterized by a heightening of the face and a lengthening of the vault with increasing size. The conservation of the same pattern of shape changes with size suggests that differences in the extent of growth contributed to the interpopulation cranial shape variation and that certain directions of morphological change were favored by the trait covariation along ontogeny. Anat Rec, 294:1864Rec, 294: -1874Rec, 294: , 2011. V V C 2011 Wiley-Liss, Inc.

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Section: Discussionmentioning

confidence: 99%

Ontogenetic Allometry and Cranial Shape Diversification Among Human Populations From South America

González

Pérez

Bernal

2011

The Anatomical Record

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“…Current studies of phenotypic and genetic variance-covariance patterns provide inconsistent results in this regard (e.g., Kirkpatrick and Lofsvold 1992;Mezey and Houle 2005;Hine and Blows 2006;Pavlicev et al 2009). Hallgrimsson and Lieberman (2008) speculated that a low-dimensional pattern of phenotypic variation is a general phenomenon that results from the "funneling" of the vast amount of genetic variation by a few central developmental pathways and morphogenetic processes. This would massively bias and constrain a population's phenotypic response to natural or artificial selection and generate a broad heterogeneity of genetic responses within a single selection scenario.…”

Section: Discussionmentioning

confidence: 99%

“…The number of such pairs of "latent" allele combinations and phenotypes that underlie the observed genotype-phenotype association depends on the genetic-developmental system under study, but typically is less than the number of assessed loci and phenotypic variables (Hallgrimsson and Lieberman 2008;Martinez-Abadias et al 2012).…”

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confidence: 99%

Multivariate Analysis of Genotype–Phenotype Association

2016

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With the advent of modern imaging and measurement technology, complex phenotypes are increasingly represented by large numbers of measurements, which may not bear biological meaning one by one. For such multivariate phenotypes, studying the pairwise associations between all measurements and all alleles is highly inefficient and prevents insight into the genetic pattern underlying the observed phenotypes. We present a new method for identifying patterns of allelic variation (genetic latent variables) that are maximally associated-in terms of effect size-with patterns of phenotypic variation (phenotypic latent variables). This multivariate genotype-phenotype mapping (MGP) separates phenotypic features under strong genetic control from less genetically determined features and thus permits an analysis of the multivariate structure of genotype-phenotype association, including its dimensionality and the clustering of genetic and phenotypic variables within this association. Different variants of MGP maximize different measures of genotype-phenotype association: genetic effect, genetic variance, or heritability. In an application to a mouse sample, scored for 353 SNPs and 11 phenotypic traits, the first dimension of genetic and phenotypic latent variables accounted for .70% of genetic variation present in all 11 measurements; 43% of variation in this phenotypic pattern was explained by the corresponding genetic latent variable. The first three dimensions together sufficed to account for almost 90% of genetic variation in the measurements and for all the interpretable genotype-phenotype association. Each dimension can be tested as a whole against the hypothesis of no association, thereby reducing the number of statistical tests from 7766 to 3-the maximal number of meaningful independent tests. Important alleles can be selected based on their effect size (additive or nonadditive effect on the phenotypic latent variable). This low dimensionality of the genotype-phenotype map has important consequences for gene identification and may shed light on the evolvability of organisms.KEYWORDS genetic mapping; genotype-phenotype map; mouse; multivariate analysis; partial least squares S TUDIES of genotype-phenotype association are central to several branches of contemporary biology and biomedicine, but they suffer from serious conceptual and statistical problems. Most of these studies consist of a vast number of pairwise comparisons between single genetic loci and single phenotypic variables, typically leading-among other reasons-to very low fractions of phenotypic variance explained by genetic effects ["missing heritability" (Manolio et al. 2009;Eichler et al. 2010)]. Post hoc corrections for multiple testing can lead to a dramatic loss of statistical power and in fact violate standard rules of statistical inference. Biologically more important, most phenotypes are not determined by single alleles, but by the joint effects, both additive and nonadditive, of a number of alleles at multiple loci. With the advent of modern ...

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“…Regarding the use of craniofacial features, research focused on recovering past history will benefit from the detection and measurement of selective pressures and plastic responses that potentially affect the diversity of non-neutral markers. In this context, the combination of the modern Evo-Devo approach to complex phenotypes (Hallgrímsson and Lieberman 2008;Hallgrímsson et al 2007) and the exploration of the relative role of drift versus selection driven by climate (Betti et al 2009a;Harvati and Weaver 2006;Roseman 2004) will enhance our knowledge of the signal that past processes leave on ancient and modern skulls.…”

Section: Genetic and Craniofacial Traits: Evidences Advantages And mentioning

confidence: 99%

Integrating Different Biological Evidence Around Some Microevolutionary Processes: Bottlenecks and Asian-American Arctic Gene Flow in the New World Settlement

González‐José

Bortolini

2011

Evo Edu Outreach

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Excepting some specific efforts, most of the mainstream debate around the Americas' settlement has been directed by specialists dealing with partial evidence. Thus, discussions have been confined to particular academic and scientific environments with limited interchange among archeologists, physical anthropologists, linguists, geneticists, geologists, paleontologists, and so on. As a consequence, integrative views about a process that is complex by definition have been scarce and driven by confrontation rather than by a search for common results. Still, an increasing number of specialists are attempting to integrate different types of data. In our view, a proper way to do this is to focus the discussion around evolutionary or cultural processes and the putative patterns that such processes could have generated in the different types of data, which in turn, depend on the nature of the data. In this way, the analyses and conclusions can be interpreted as "model-bound" rather than purely inferential. In this paper, we first provide a brief summary of main differences among the two main sources of biological informationgenetics and craniofacial size and shape-along with the main conclusions that the patterns of genetic and craniofacial variation provide. Furthermore, we exemplify the above-mentioned notion by discussing two particular processes and their hypothetical impact on genetic and craniofacial data: the influence of bottlenecks during the early dispersal and a putative zone of gene flow among Asian and American Circum-Arctic populations.Keywords Bottlenecks . Arctic gene flow . Skull shape . mtDNA . Y-chromosome . Autosomal markers . Native Americans Humans have always been curious about their origins back before the rise of civilization. However, only with the advent of science were widely accepted methods established in order to answer many issues regarding our own history. Archeology and paleontology have long offered theoretical tools and empirical evidence to support research on modern Homo sapiens origins and its extraordinary outof-Africa expansion and adaptive radiation to previously unoccupied continents (Collard et al. 2007;Foley and Lahr 2003;Lahr 1996;Rightmire et al. 2007;Stringer et al. 1995). This scenario, however, experienced a major revolution in the past century with the emergence of genetics and more recently, of molecular biology, because both disciplines have brought new tools to uncover the unregistered past of human populations (see recent examples in Blum and Jakobsson 2010;Rasmussen et al. 2010;Ray et al. 2009). Additionally, population and quantitative genetics provide a formal, proper framework to make inferences around the four central concepts of Darwinian thought (multiplication, heredity, variation, and competition by natural selection) and further concepts emphasized by modern evolutionary theory as well (stochastic factors, epigenesis, genomics, evolutionary development, geneculture coevolution, etc.). To sum up, a highly stimulating set of disciplines contributes ...

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Mouse models and the evolutionary developmental biology of the skull

Cited by 85 publications

References 45 publications

Ontogenetic Allometry and Cranial Shape Diversification Among Human Populations From South America

Ontogenetic Allometry and Cranial Shape Diversification Among Human Populations From South America

Multivariate Analysis of Genotype–Phenotype Association

Integrating Different Biological Evidence Around Some Microevolutionary Processes: Bottlenecks and Asian-American Arctic Gene Flow in the New World Settlement

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