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1.
Anat Rec (Hoboken) ; 2023 Nov 23.
Article in English | MEDLINE | ID: mdl-37994725

ABSTRACT

Sensory organs must develop alongside the skull within which they are largely encased, and this relationship can manifest as the skull constraining the organs, organs constraining the skull, or organs constraining one another in relative size. How this interplay between sensory organs and the developing skull plays out during the evolution of sensory diversity; however, remains unknown. Here, we examine the developmental sequence of the cochlea, the organ responsible for hearing and echolocation, in species with distinct diet and echolocation types within the ecologically diverse bat super-family Noctilionoidea. We found the size and shape of the cochlea largely correlates with skull size, with exceptions of Pteronotus parnellii, whose high duty cycle echolocation (nearly constant emission of sound pulses during their echolocation process allowing for detailed information gathering, also called constant frequency echolocation) corresponds to a larger cochlear and basal turn, and Monophyllus redmani, a small-bodied nectarivorous bat, for which interactions with other sensory organs restrict cochlea size. Our findings support the existence of developmental constraints, suggesting that both developmental and anatomical factors may act synergistically during the development of sensory systems in noctilionoid bats.

2.
J Hum Evol ; 179: 103369, 2023 06.
Article in English | MEDLINE | ID: mdl-37104893

ABSTRACT

Previous studies showed that there is variation in ontogenetic trajectories of human limb dimensions and proportions. However, little is known about the evolutionary significance of this variation. This study used a global sample of modern human immature long bone measurements and a multivariate linear mixed-effects model to study 1) whether the variation in ontogenetic trajectories of limb dimensions is consistent with ecogeographic predictions and 2) the effects of different evolutionary forces on the variation in ontogenetic trajectories. We found that genetic relatedness arising from neutral (nonselective) evolution, allometric variation associated with the change in size, and directional effects from climate all contributed to the variation in ontogenetic trajectories of all major long bone dimensions in modern humans. After accounting for the effects of neutral evolution and holding other effects considered in the current study constant, extreme temperatures have weak, positive associations with diaphyseal length and breadth measurements, while mean temperature shows negative associations with diaphyseal dimensions. The association with extreme temperatures fits the expectations of ecogeographic rules, while the association with mean temperature may explain the observed among-group variation in intralimb indices. The association with climate is present throughout ontogeny, suggesting an explanation of adaptation by natural selection as the most likely cause. On the other hand, genetic relatedness among groups, as structured by neutral evolutionary factors, is an important consideration when interpreting skeletal morphology, even for nonadult individuals.


Subject(s)
Genetic Drift , Upper Extremity , Humans , Adaptation, Physiological , Bone and Bones , Biological Evolution
3.
Bioessays ; 43(12): e2100204, 2021 12.
Article in English | MEDLINE | ID: mdl-34738661

ABSTRACT

In 1972, R.C. Lewontin concluded that it follows from the fact that the large majority of human genetic variation (≈ 85%) is among individuals within local populations that racial taxonomy is unjustified. Three decades later, Edwards demonstrated that while the accuracy with which individuals may be assigned to groups is poor for a single locus, consideration of multi-locus data allows for highly accurate assignments. Edwards concluded that Lewontin's dismissal of racial taxonomy was unwarranted. Edwards misidentified the aim of Lewontin's critique, which was directed at the utility of racial classification and not at assigning individuals to groups using genetic data. Moreover, Edwards conflated distinct kinds of correlation when sketching out his argument. If we follow Edwards' argument to its natural terminus, it becomes clear that it is consideration of all of the correlation structure among local groups in human genetic data that renders racial taxonomy scientifically useless. Lewontin considers the correlation structure relevant to his analysis of racial taxonomy and does not make his eponymous misstep. Rather, critics of Lewontin who use racial taxonomies in their work are the primary offenders when it comes to committing Lewontin's fallacy.

4.
Elife ; 102021 11 15.
Article in English | MEDLINE | ID: mdl-34779766

ABSTRACT

Realistic mappings of genes to morphology are inherently multivariate on both sides of the equation. The importance of coordinated gene effects on morphological phenotypes is clear from the intertwining of gene actions in signaling pathways, gene regulatory networks, and developmental processes underlying the development of shape and size. Yet, current approaches tend to focus on identifying and localizing the effects of individual genes and rarely leverage the information content of high-dimensional phenotypes. Here, we explicitly model the joint effects of biologically coherent collections of genes on a multivariate trait - craniofacial shape - in a sample of n = 1145 mice from the Diversity Outbred (DO) experimental line. We use biological process Gene Ontology (GO) annotations to select skeletal and facial development gene sets and solve for the axis of shape variation that maximally covaries with gene set marker variation. We use our process-centered, multivariate genotype-phenotype (process MGP) approach to determine the overall contributions to craniofacial variation of genes involved in relevant processes and how variation in different processes corresponds to multivariate axes of shape variation. Further, we compare the directions of effect in phenotype space of mutations to the primary axis of shape variation associated with broader pathways within which they are thought to function. Finally, we leverage the relationship between mutational and pathway-level effects to predict phenotypic effects beyond craniofacial shape in specific mutants. We also introduce an online application that provides users the means to customize their own process-centered craniofacial shape analyses in the DO. The process-centered approach is generally applicable to any continuously varying phenotype and thus has wide-reaching implications for complex trait genetics.


Subject(s)
Face/anatomy & histology , Skull/anatomy & histology , Multivariate Analysis , Phenotype
5.
PLoS One ; 15(6): e0233377, 2020.
Article in English | MEDLINE | ID: mdl-32502155

ABSTRACT

The biology of how faces are built and come to differ from one another is complex. Discovering normal variants that contribute to differences in facial morphology is one key to untangling this complexity, with important implications for medicine and evolutionary biology. This study maps quantitative trait loci (QTL) for skeletal facial shape using Diversity Outbred (DO) mice. The DO is a randomly outcrossed population with high heterozygosity that captures the allelic diversity of eight inbred mouse lines from three subspecies. The study uses a sample of 1147 DO animals (the largest sample yet employed for a shape QTL study in mouse), each characterized by 22 three-dimensional landmarks, 56,885 autosomal and X-chromosome markers, and sex and age classifiers. We identified 37 facial shape QTL across 20 shape principal components (PCs) using a mixed effects regression that accounts for kinship among observations. The QTL include some previously identified intervals as well as new regions that expand the list of potential targets for future experimental study. Three QTL characterized shape associations with size (allometry). Median support interval size was 3.5 Mb. Narrowing additional analysis to QTL for the five largest magnitude shape PCs, we found significant overrepresentation of genes with known roles in growth, skeletal and facial development, and sensory organ development. For most intervals, one or more of these genes lies within 0.25 Mb of the QTL's peak. QTL effect sizes were small, with none explaining more than 0.5% of facial shape variation. Thus, our results are consistent with a model of facial diversity that is influenced by key genes in skeletal and facial development and, simultaneously, is highly polygenic.


Subject(s)
Bone Development/genetics , Facial Bones/anatomy & histology , Maxillofacial Development/genetics , Alleles , Animals , Bone and Bones/anatomy & histology , Chromosome Mapping/methods , Collaborative Cross Mice/genetics , Face/anatomy & histology , Female , Genetic Variation/genetics , Genotype , Male , Mice , Phenotype , Polymorphism, Single Nucleotide/genetics , Quantitative Trait Loci/genetics
6.
Elife ; 92020 03 25.
Article in English | MEDLINE | ID: mdl-32209229

ABSTRACT

Experiments on mice have shown that developmental processes are influencing the generation of phenotypic variation in a way that shapes evolution.


Subject(s)
Biological Evolution , Developmental Biology , Animals , Mice , Molar
7.
J Exp Zool B Mol Dev Evol ; 334(2): 100-112, 2020 03.
Article in English | MEDLINE | ID: mdl-32017444

ABSTRACT

Variation in pelvic morphology has a complex genetic basis and its patterning and specification is governed by conserved developmental pathways. Whether the mechanisms underlying the differentiation and specification of the pelvis also produce the morphological covariation on which natural selection may act, is still an open question in evolutionary developmental biology. We use high-resolution quantitative trait locus (QTL) mapping in the F34 generation of an advanced intercross experiment (LG,SM-G34 ) to characterize the genetic architecture of the mouse pelvis. We test the prediction that genomic features linked to developmental patterning and differentiation of the hind limb and pelvis and the regulation of chondrogenesis are overrepresented in QTL. We find 31 single QTL trait associations at the genome- or chromosome-wise significance level coalescing to 27 pleiotropic loci. We recover further QTL at a more relaxed significance threshold replicating locations found in a previous experiment in an earlier generation of the same population. QTL were more likely than chance to harbor Pitx1 and Sox9 Class II chromatin immunoprecipitation-seq features active during development of skeletal features. There was weak or no support for the enrichment of seven more categories of developmental features drawn from the literature. Our results suggest that genotypic variation is channeled through a subset of developmental processes involved in the generation of phenotypic variation in the pelvis. This finding indicates that the evolvability of complex traits may be subject to biases not evident from patterns of covariance among morphological features or developmental patterning when either is considered in isolation.


Subject(s)
Paired Box Transcription Factors/metabolism , Pelvis/growth & development , SOX9 Transcription Factor/metabolism , Animals , Biological Evolution , Gene Expression Regulation, Developmental , Genomics , Genotype , Mice , Paired Box Transcription Factors/genetics , Polymorphism, Single Nucleotide , Quantitative Trait Loci , SOX9 Transcription Factor/genetics
8.
Dev Dyn ; 248(12): 1232-1242, 2019 12.
Article in English | MEDLINE | ID: mdl-31469941

ABSTRACT

BACKGROUND: Cleft lip and palate is one of the most common human birth defects, but the underlying etiology is poorly understood. The A/WySn mouse is a spontaneously occurring model of multigenic clefting in which 20% to 30% of individuals develop an orofacial cleft. Recent work has shown altered methylation at a specific retrotransposon insertion downstream of the Wnt9b locus in clefting animals, which results in decreased Wnt9b expression. RESULTS: Using a newly developed protocol that allows us to measure morphology, gene expression, and DNA methylation in the same embryo, we relate gene expression in an individual embryo directly to its three-dimensional morphology for the first time. We find that methylation at the retrotransposon relates to Wnt9b expression and morphology. IAP methylation relates to shape of the nasal process in a manner consistent with clefting. Embryos with low IAP methylation exhibit increased among-individual variance in facial shape. CONCLUSIONS: Methylation and gene expression relate nonlinearly to nasal process morphology. Individuals at one end of a continuum of phenotypic states display a clinical phenotype and increased phenotypic variation. Variable penetrance and expressivity in this model is likely determined both by among-individual variation in methylation and changes in phenotypic robustness along the underlying liability distribution for orofacial clefting.


Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Disease Models, Animal , Gene Expression Regulation, Developmental/physiology , Animals , Biological Variation, Individual , Cleft Lip/complications , Cleft Lip/pathology , Cleft Palate/complications , Cleft Palate/pathology , DNA Methylation , Embryo, Mammalian , Face/embryology , Face/pathology , Genetic Association Studies , Genetic Heterogeneity , Humans , Mice , Mice, Transgenic , Palate/embryology , Palate/pathology , Phenotype , Retroelements/genetics , Wnt Proteins/genetics
9.
Integr Comp Biol ; 59(5): 1369-1381, 2019 11 01.
Article in English | MEDLINE | ID: mdl-31199435

ABSTRACT

Allometry refers to the ways in which organismal shape is associated with size. It is a special case of integration, or the tendency for traits to covary, in that variation in size is ubiquitous and evolutionarily important. Allometric variation is so commonly observed that it is routinely removed from morphometric analyses or invoked as an explanation for evolutionary change. In this case, familiarity is mistaken for understanding because rarely do we know the mechanisms by which shape correlates with size or understand their significance. As with other forms of integration, allometric variation is generated by variation in developmental processes that affect multiple traits, resulting in patterns of covariation. Given this perspective, we can dissect the genetic and developmental determinants of allometric variation. Our work on the developmental and genetic basis for allometric variation in craniofacial shape in mice and humans has revealed that allometric variation is highly polygenic. Different measures of size are associated with distinct but overlapping patterns of allometric variation. These patterns converge in part on a common genetic basis. Finally, environmental modulation of size often generates variation along allometric trajectories, but the timing of genetic and environmental perturbations can produce deviations from allometric patterns when traits are differentially sensitive over developmental time. These results question the validity of viewing allometry as a singular phenomenon distinct from morphological integration more generally.


Subject(s)
Biological Evolution , Body Size , Mice/growth & development , Phenotype , Skull/growth & development , Animals , Humans , Mice/anatomy & histology , Mice/genetics , Skull/anatomy & histology
10.
Evol Anthropol ; 28(4): 189-209, 2019 Jul.
Article in English | MEDLINE | ID: mdl-31222847

ABSTRACT

During the late Pleistocene, isolated lineages of hominins exchanged genes thus influencing genomic variation in humans in both the past and present. However, the dynamics of this genetic exchange and associated phenotypic consequences through time remain poorly understood. Gene exchange across divergent lineages can result in myriad outcomes arising from these dynamics and the environmental conditions under which it occurs. Here we draw from our collective research across various organisms, illustrating some of the ways in which gene exchange can structure genomic/phenotypic diversity within/among species. We present a range of examples relevant to questions about the evolution of hominins. These examples are not meant to be exhaustive, but rather illustrative of the diverse evolutionary causes/consequences of hybridization, highlighting potential drivers of human evolution in the context of hybridization including: influences on adaptive evolution, climate change, developmental systems, sex-differences in behavior, Haldane's rule and the large X-effect, and transgressive phenotypic variation.


Subject(s)
Biological Evolution , Hominidae , Hybridization, Genetic/genetics , Animals , Anthropology, Physical , Female , Genome, Human/genetics , Hominidae/anatomy & histology , Hominidae/genetics , Humans , Male , Mice , Neanderthals/anatomy & histology , Neanderthals/genetics , Phenotype , Skull/anatomy & histology
11.
Semin Cell Dev Biol ; 88: 67-79, 2019 04.
Article in English | MEDLINE | ID: mdl-29782925

ABSTRACT

Canalization, or robustness to genetic or environmental perturbations, is fundamental to complex organisms. While there is strong evidence for canalization as an evolved property that varies among genotypes, the developmental and genetic mechanisms that produce this phenomenon are very poorly understood. For evolutionary biology, understanding how canalization arises is important because, by modulating the phenotypic variation that arises in response to genetic differences, canalization is a determinant of evolvability. For genetics of disease in humans and for economically important traits in agriculture, this subject is important because canalization is a potentially significant cause of missing heritability that confounds genomic prediction of phenotypes. We review the major lines of thought on the developmental-genetic basis for canalization. These fall into two groups. One proposes specific evolved molecular mechanisms while the other deals with robustness or canalization as a more general feature of development. These explanations for canalization are not mutually exclusive and they overlap in several ways. General explanations for canalization are more likely to involve emergent features of development than specific molecular mechanisms. Disentangling these explanations is also complicated by differences in perspectives between genetics and developmental biology. Understanding canalization at a mechanistic level will require conceptual and methodological approaches that integrate quantitative genetics and developmental biology.


Subject(s)
Biological Evolution , Epigenesis, Genetic , Epistasis, Genetic , Genetic Association Studies , Genotype , Phenotype , Adaptation, Physiological/genetics , Animals , Developmental Biology/methods , Gene Regulatory Networks , Gene-Environment Interaction , Genetic Techniques , Genetic Variation , Genetics , Humans , Plants/genetics , Quantitative Trait, Heritable , Selection, Genetic
12.
Evodevo ; 9: 3, 2018.
Article in English | MEDLINE | ID: mdl-29423138

ABSTRACT

BACKGROUND: Previous analysis suggested that the relative contribution of individual bones to regional skull lengths differ between inbred mouse strains. If the negative correlation of adjacent bone lengths is associated with genetic variation in a heterogeneous population, it would be an example of negative pleiotropy, which occurs when a genetic factor leads to opposite effects in two phenotypes. Confirming negative pleiotropy and determining its basis may reveal important information about the maintenance of overall skull integration and developmental constraint on skull morphology. RESULTS: We identified negative correlations between the lengths of the frontal and parietal bones in the midline cranial vault as well as the zygomatic bone and zygomatic process of the maxilla, which contribute to the zygomatic arch. Through gene association mapping of a large heterogeneous population of Diversity Outbred (DO) mice, we identified a quantitative trait locus on chromosome 17 driving the antagonistic contribution of these two zygomatic arch bones to total zygomatic arch length. Candidate genes in this region were identified and real-time PCR of the maxillary processes of DO founder strain embryos indicated differences in the RNA expression levels for two of the candidate genes, Camkmt and Six2. CONCLUSIONS: A genomic region underlying negative pleiotropy of two zygomatic arch bones was identified, which provides a mechanism for antagonism in component bone lengths while constraining overall zygomatic arch length. This type of mechanism may have led to variation in the contribution of individual bones to the zygomatic arch noted across mammals. Given that similar genetic and developmental mechanisms may underlie negative correlations in other parts of the skull, these results provide an important step toward understanding the developmental basis of evolutionary variation and constraint in skull morphology.

13.
Hum Biol ; 90(4): 241-250, 2018 11.
Article in English | MEDLINE | ID: mdl-31714692

ABSTRACT

Hereditarians have claimed that recent advances in psychological and psychiatric genetics support their contention that socially important aspects of behavior and cognition in individuals and groups are largely insensitive to environmental context. This has been countered by anti-hereditarians who (correctly) claim that the conclusion of genetic ineluctability is false. Anti-hereditarians, however, sometimes use problematic arguments based on complexity and the ignorance that comes with complexity and a demand for mechanistic, as opposed to variational, explanations for the ways in which genes affect phenotype. I argue here, as a committed anti-hereditarian, that the complexity gambit and the demand for mechanisms open anti-hereditarian arguments to counterattack from hereditarians. Refocusing the argument onto issues about when heritability, genotypic scores, and genome-wide association studies may be appropriately applied and reemphasizing the point that context matters are stronger measures to counter hereditarian claims.


Subject(s)
Heredity , Human Genetics , Genetic Diseases, Inborn/genetics , Genetic Variation , Genome-Wide Association Study , Humans
14.
Am J Phys Anthropol ; 165(2): 327-342, 2018 02.
Article in English | MEDLINE | ID: mdl-29178597

ABSTRACT

OBJECTIVES: Morphological integration, or the tendency for covariation, is commonly seen in complex traits such as the human face. The effects of growth on shape, or allometry, represent a ubiquitous but poorly understood axis of integration. We address the question of to what extent age and measures of size converge on a single pattern of allometry for human facial shape. METHODS: Our study is based on two large cross-sectional cohorts of children, one from Tanzania and the other from the United States (N = 7,173). We employ 3D facial imaging and geometric morphometrics to relate facial shape to age and anthropometric measures. RESULTS: The two populations differ significantly in facial shape, but the magnitude of this difference is small relative to the variation within each group. Allometric variation for facial shape is similar in both populations, representing a small but significant proportion of total variation in facial shape. Different measures of size are associated with overlapping but statistically distinct aspects of shape variation. Only half of the size-related variation in facial shape can be explained by the first principal component of four size measures and age while the remainder associates distinctly with individual measures. CONCLUSIONS: Allometric variation in the human face is complex and should not be regarded as a singular effect. This finding has important implications for how size is treated in studies of human facial shape and for the developmental basis for allometric variation more generally.


Subject(s)
Body Size/physiology , Face/anatomy & histology , Adolescent , Adult , Anthropology, Physical , Biological Evolution , Biometry , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Imaging, Three-Dimensional , Male , Tanzania , United States , Young Adult
15.
J Anat ; 232(2): 250-262, 2018 02.
Article in English | MEDLINE | ID: mdl-29193055

ABSTRACT

Variation in the shape of the human face and in stature is determined by complex interactions between genetic and environmental influences. One such environmental influence is malnourishment, which can result in growth faltering, usually diagnosed by means of comparing an individual's stature with a set of age-appropriate standards. These standards for stature, however, are typically ascertained in groups where people are at low risk for growth faltering. Moreover, genetic differences among populations with respect to stature are well established, further complicating the generalizability of stature-based diagnostic tools. In a large sample of children aged 5-19 years, we obtained high-resolution genomic data, anthropometric measures and 3D facial images from individuals within and around the city of Mwanza, Tanzania. With genome-wide complex trait analysis, we partitioned genetic and environmental variance for growth outcomes and facial shape. We found that children with growth faltering have faces that look like those of older and taller children, in a direction opposite to the expected allometric trajectory, and in ways predicted by the environmental portion of covariance at the community and individual levels. The environmental variance for facial shape varied subtly but significantly among communities, whereas genetic differences were minimal. These results reveal that facial shape preserves information about exposure to undernourishment, with important implications for refining assessments of nutritional status in children and the developmental-genetics of craniofacial variation alike.


Subject(s)
Child Development , Facial Bones/diagnostic imaging , Malnutrition/diagnosis , Adolescent , Child , Child, Preschool , Cross-Sectional Studies , Female , Growth , Humans , Imaging, Three-Dimensional , Male , Tanzania , Young Adult
16.
Nat Commun ; 8(1): 1970, 2017 12 06.
Article in English | MEDLINE | ID: mdl-29213092

ABSTRACT

Robustness to perturbation is a fundamental feature of complex organisms. Mutations are the raw material for evolution, yet robustness to their effects is required for species survival. The mechanisms that produce robustness are poorly understood. Nonlinearities are a ubiquitous feature of development that may link variation in development to phenotypic robustness. Here, we manipulate the gene dosage of a signaling molecule, Fgf8, a critical regulator of vertebrate development. We demonstrate that variation in Fgf8 expression has a nonlinear relationship to phenotypic variation, predicting levels of robustness among genotypes. Differences in robustness are not due to gene expression variance or dysregulation, but emerge from the nonlinearity of the genotype-phenotype curve. In this instance, embedded features of development explain robustness differences. How such features vary in natural populations and relate to genetic variation are key questions for unraveling the origin and evolvability of this feature of organismal development.


Subject(s)
Evolution, Molecular , Genetic Variation , Models, Genetic , Phenotype , Animals , Biological Evolution , Computer Simulation , Fibroblast Growth Factor 8/genetics , Gene Dosage , Gene Expression , Gene Expression Regulation , Gene Regulatory Networks , Genotype , Male , Mice , Mutation , Nonlinear Dynamics , RNA/genetics
17.
Proc Natl Acad Sci U S A ; 113(34): 9492-7, 2016 08 23.
Article in English | MEDLINE | ID: mdl-27482101

ABSTRACT

Variation in body form among human groups is structured by a blend of natural selection driven by local climatic conditions and random genetic drift. However, attempts to test ecogeographic hypotheses have not distinguished between adaptive traits (i.e., those that evolved as a result of selection) and those that evolved as a correlated response to selection on other traits (i.e., nonadaptive traits), complicating our understanding of the relationship between climate and morphological distinctions among populations. Here, we use evolutionary quantitative methods to test if traits previously identified as supporting ecogeographic hypotheses were actually adaptive by estimating the force of selection on individual traits needed to drive among-group differentiation. Our results show that not all associations between trait means and latitude were caused by selection acting directly on each individual trait. Although radial and tibial length and biiliac and femoral head breadth show signs of responses to directional selection matching ecogeographic hypotheses, the femur was subject to little or no directional selection despite having shorter values by latitude. Additionally, in contradiction to ecogeographic hypotheses, the humerus was under directional selection for longer values by latitude. Responses to directional selection in the tibia and radius induced a nonadaptive correlated response in the humerus that overwhelmed its own trait-specific response to selection. This result emphasizes that mean differences between groups are not good indicators of which traits are adaptations in the absence of information about covariation among characteristics.


Subject(s)
Biological Evolution , Body Constitution/genetics , Human Body , Quantitative Trait, Heritable , Selection, Genetic , Body Constitution/ethnology , Climate , Gene Flow , Genetic Drift , Humans , Male , Phylogeography , Racial Groups
18.
Am J Phys Anthropol ; 160(4): 582-92, 2016 08.
Article in English | MEDLINE | ID: mdl-26817417

ABSTRACT

OBJECTIVES: This study assesses the extent to which relationships among groups complicate comparative studies of adaptation in recent human cranial variation and the extent to which departures from neutral additive models of evolution hinder the reconstruction of population relationships among groups using cranial morphology. MATERIALS AND METHODS: Using a maximum likelihood evolutionary model fitting approach and a mixed population genomic and cranial data set, I evaluate the relative fits of several widely used models of human cranial evolution. Moreover, I compare the goodness of fit of models of cranial evolution constrained by genomic variation to test hypotheses about population specific departures from neutrality. RESULTS: Models from population genomics are much better fits to cranial variation than are traditional models from comparative human biology. There is not enough evolutionary information in the cranium to reconstruct much of recent human evolution but the influence of population history on cranial variation is strong enough to cause comparative studies of adaptation serious difficulties. Deviations from a model of random genetic drift along a tree-like population history show the importance of environmental effects, gene flow, and/or natural selection on human cranial variation. Moreover, there is a strong signal of the effect of natural selection or an environmental factor on a group of humans from Siberia. DISCUSSION: The evolution of the human cranium is complex and no one evolutionary process has prevailed at the expense of all others. A holistic unification of phenome, genome, and environmental context, gives us a strong point of purchase on these problems, which is unavailable to any one traditional approach alone. Am J Phys Anthropol 160:582-592, 2016. © 2016 Wiley Periodicals, Inc.


Subject(s)
Biological Evolution , Genetic Drift , Selection, Genetic/genetics , Skull/anatomy & histology , Skull/physiology , Anthropology, Physical , Cephalometry , Genetics, Population , Humans , Male
19.
J Hum Evol ; 85: 94-110, 2015 Aug.
Article in English | MEDLINE | ID: mdl-26164108

ABSTRACT

Causal explanations for the dramatic changes that occurred during the evolution of the human hip focus largely on selection for bipedal function and locomotor efficiency. These hypotheses rest on two critical assumptions. The first-that these anatomical changes served functional roles in bipedalism-has been supported in numerous analyses showing how postcranial changes likely affected locomotion. The second-that morphological changes that did play functional roles in bipedalism were the result of selection for that behavior-has not been previously explored and represents a major gap in our understanding of hominin hip evolution. Here we use evolutionary quantitative genetic models to test the hypothesis that strong directional selection on many individual aspects of morphology was responsible for the large differences observed across a sample of fossil hominin hips spanning the Plio-Pleistocene. Our approach uses covariance among traits and the differences between relatively complete fossils to estimate the net selection pressures that drove the major transitions in hominin hip evolution. Our findings show a complex and changing pattern of natural selection drove hominin hip evolution, and that many, but not all, traits hypothesized to play functional roles in bipedalism evolved as a direct result of natural selection. While the rate of evolutionary change for all transitions explored here does not exceed the amount expected if evolution was occurring solely through neutral processes, it was far above rates of evolution for morphological traits in other mammalian groups. Given that stasis is the norm in the mammalian fossil record, our results suggest that large shifts in the adaptive landscape drove hominin evolution.


Subject(s)
Biological Evolution , Fossils , Hip Joint , Hip , Hominidae , Selection, Genetic , Animals , Anthropology, Physical , Female , Hip/anatomy & histology , Hip/physiology , Hip Joint/anatomy & histology , Hip Joint/physiology , Hominidae/anatomy & histology , Hominidae/physiology , Humans , Male
20.
J Hum Evol ; 78: 80-90, 2015 Jan.
Article in English | MEDLINE | ID: mdl-25456824

ABSTRACT

Genetic resemblances among groups are non-randomly distributed in humans. This population structure may influence the correlations between traits and environmental drivers of natural selection thus complicating the interpretation of the fossil record when modern human variation is used as a referential model. In this paper, we examine the effects of population structure and natural selection on postcranial traits that reflect body size and shape with application to the more general issue of how climate - using latitude as a proxy - has influenced hominin morphological variation. We compare models that include terms reflecting population structure, ascertained from globally distributed microsatellite data, and latitude on postcranial phenotypes derived from skeletal dimensions taken from a large global sample of modern humans. We find that models with a population structure term fit better than a model of natural selection along a latitudinal cline in all cases. A model including both latitude and population structure terms is a good fit to distal limb element lengths and bi-iliac breadth, indicating that multiple evolutionary forces shaped these morphologies. In contrast, a model that included only a population structure term best explained femoral head diameter and the crural index. The results demonstrate that population structure is an important part of human postcranial variation, and that clinally distributed natural selection is not sufficient to explain among-group differentiation. The distribution of human body form is strongly influenced by the contingencies of modern human origins, which calls for new ways to approach problems in the evolution of human variation, past and present.


Subject(s)
Biological Evolution , Body Size , Computer Simulation , Models, Biological , Selection, Genetic , Anthropology, Physical , Body Size/genetics , Body Size/physiology , Female , Fossils , Humans , Male
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