The past few years of genetic research on primate quantitative trait variation have been notable in the diversity of phenotypes explored, ranging from classic skeletal measurements to behavior, ...through to levels of gene expression, and with observations from both captive and wild populations. These studies demonstrate the importance of captive pedigreed breeding colonies, populations that can be matched to their wild counterparts to enable comparison of genetic architectures. Non-human primate genotype:phenotype maps are essential for placing human variation within an evolutionary framework as well as for gaining insight to human biology. While the demographic history of most primates has been fairly stable since the Late Pleistocene, humans experienced a dramatic population expansion that increased the number of rare, mildly deleterious mutations. These rare genetic variants complicate the genotype:phenotype association because they account for a disproportionate amount of the genetic variance and are harder to detect. The similar physiologies of our closest living relatives may prove to be key for overcoming the hurdles posed by humans’ peculiar demographic explosion.
Developmental genetics research on mice provides a relatively sound understanding of the genes necessary and sufficient to make mammalian teeth. However, mouse dentitions are highly derived compared ...with human dentitions, complicating the application of these insights to human biology. We used quantitative genetic analyses of data from living nonhuman primates and extensive osteological and paleontological collections to refine our assessment of dental phenotypes so that they better represent how the underlying genetic mechanisms actually influence anatomical variation. We identify ratios that better characterize the output of two dental genetic patterning mechanisms for primate dentitions. These two newly defined phenotypes are heritable with no measurable pleiotropic effects. When we consider how these two phenotypes vary across neontological and paleontological datasets, we find that the major Middle Miocene taxonomic shift in primate diversity is characterized by a shift in these two genetic outputs. Our results build on the mouse model by combining quantitative genetics and paleontology, and thereby elucidate how genetic mechanisms likely underlie major events in primate evolution.
Gene variants that influence human biology today reflect thousands of years of evolution. Genetic effects on infant health are a major point of selective pressure, given that childhood survival is ...essential to evolutionary success. Knowledge of this evolutionary history can have implications for paediatric research.
Conclusion
An episode of human adaptation to the extremely low ultraviolet radiation environment of the Arctic 20,000 years ago implicates the Ectodysplasin A Receptor (EDAR) and the Fatty Acid Desaturases (FADS) in human lactation and epithelial inflammation.
An organism's anatomy is the result of millions of years of interplay between DNA sequence, developmental processes, the environment, and evolutionary forces. The anatomical sciences are consequently ...highly integrative and interdisciplinary. That said, reaching across all of the relevant disciplines can be a daunting task because scientific publications are produced today at an astounding rate. This manuscript brings together insights from the quantitative genetic analysis of dental variation into the study of human evolutionary odontology within the context of genomics, genetic modularity, and phenomics. It primarily advocates the use of quantitative genetics to not only identify QTLs, but also to assess the patterns of genetic covariance that underlie phenotypic covariance, thereby enabling us to conceptualize phenotypic variation as a reflection of the underlying genetic mechanisms. By highlighting three phenotypes of importance within the study of human evolution (patterning of the dental arcade, enamel thickness, and taurodontism), it is demonstrated how an integrated consideration of quantitative genetics, genomic analyses, and paleontology can bring us to more detailed hypotheses about the evolution of the hominid clade.
The ectodysplasin receptor (EDAR) is a tumor necrosis factor receptor (TNF) superfamily member. A substitution in an exon of EDAR at position 370 (EDARV370A) creates a gain of function mutant present ...at high frequencies in Asian and Indigenous American populations but absent in others. Its frequency is intermediate in populations of Mexican ancestry. EDAR regulates the development of ectodermal tissues, including mammary ducts. Obesity and type 2 diabetes mellitus are prevalent in people with Indigenous and Latino ancestry. Latino patients also have altered prevalence and presentation of breast cancer. It is unknown whether EDARV370A might connect these phenomena. The goals of this study were to determine 1) whether EDARV370A is associated with metabolic phenotypes and 2) if there is altered breast anatomy in women carrying EDARV370A. Participants were from two Latino cohorts, the Arizona Insulin Resistance (AIR) registry and Sangre por Salud (SPS) biobank. The frequency of EDARV370A was 47% in the Latino cohorts. In the AIR registry, carriers of EDARV370A (GG homozygous) had significantly (p < 0.05) higher plasma triglycerides, VLDL, ALT, 2-hour post-challenge glucose, and a higher prevalence of prediabetes/diabetes. In a subset of the AIR registry, serum levels of ectodysplasin A2 (EDA-A2) also were associated with HbA1c and prediabetes (p < 0.05). For the SPS biobank, participants that were carriers of EDARV370A had lower breast density and higher HbA1c (both p < 0.05). The significant associations with measures of glycemia remained when the cohorts were combined. We conclude that EDARV370A is associated with characteristics of the metabolic syndrome and breast density in Latinos.
Evidence of how gestational parameters evolved is essential to understanding this fundamental stage of human life. Until now, these data seemed elusive given the skeletal bias of the fossil record. ...We demonstrate that dentition provides a window into the life of neonates. Teeth begin to form in utero and are intimately associated with gestational development. We measured the molar dentition for 608 catarrhine primates and collected data on prenatal growth rate (PGR) and endocranial volume (ECV) for 19 primate genera from the literature. We found that PGR and ECV are highly correlated (
R
2
= 0.93,
P
< 0.001). Additionally, we demonstrated that molar proportions are significantly correlated with PGR (
P
= 0.004) and log-transformed ECV (
P
= 0.001). From these correlations, we developed two methods for reconstructing PGR in the fossil record, one using ECV and one using molar proportions. Dental proportions reconstruct hominid ECV (
R
2
= 0.81,
P
< 0.001), a result that can be extrapolated to PGR. As teeth dominate fossil assemblages, our findings greatly expand our ability to investigate life history in the fossil record. Fossil ECVs and dental measurements from 13 hominid species both support significantly increasing PGR throughout the terminal Miocene and Plio-Pleistocene, reflecting known evolutionary changes. Together with pelvic and endocranial morphology, reconstructed PGRs indicate the need for increasing maternal energetics during pregnancy over the last 6 million years, reaching a human-like PGR (i.e., more similar to humans than to other extant apes) and ECV in later
Homo
less than 1 million years ago.
Objectives
Although a great deal is known about the biology of tooth development and eruption, there remains disagreement about the factors driving the evolution of dental eruption sequence. We ...assessed postcanine eruption sequence across a large sample of primates to test two hypotheses: (1) Dental eruption sequence is significantly correlated with life history and body size variables that capture postnatal growth and longevity (Schultz's rule), and (2) Dental eruption sequence is conserved phylogenetically.
Materials and methods
We assessed postcanine dental eruption sequence for 194 individuals representing 21 primate genera spanning eight families. With the inclusion of an additional 29 primate genera from the literature, this is the most comprehensive report on dental eruption sequence in primates to date. We used a series of phylogenetic analyses to statistically compare dental eruption sequence to life history and body size and test for phylogenetic signal in these traits.
Results
Dental eruption sequence is conserved phylogenetically in primates, and body and brain size are both significantly associated with dental eruption sequence. Ancestral state reconstruction supports the hypothesis that the third molar erupted before one or more of the premolars in the ancestor of primates, and derived clades within primates evolved an eruption sequence in which the third molar erupts after the premolars.
Discussion
Schultz's rule, as it is currently written and applied, is not supported by this extended data set. Our results demonstrate that dental eruption sequence is a far better predictor of phylogeny and will likely prove useful in phylogenetic hypotheses about relationships between extinct and extant mammalian taxa. The evolution of dental eruption sequence is likely driven by factors that significantly influence body size and mandibular symphyseal fusion.
Because of the ubiquitous adaptability of our material culture, some human populations have occupied extreme environments that intensified selection on existing genomic variation. By 32,000 years ...ago, people were living in Arctic Beringia, and during the Last Glacial Maximum (LGM; 28,000–18,000 y ago), they likely persisted in the Beringian refugium. Such high latitudes provide only very low levels of UV radiation, and can thereby lead to dangerously low levels of biosynthesized vitamin D. The physiological effects of vitamin D deficiency range from reduced dietary absorption of calcium to a compromised immune system and modified adipose tissue function. The ectodysplasin A receptor (EDAR) gene has a range of pleiotropic effects, including sweat gland density, incisor shoveling, and mammary gland ductal branching. The frequency of the human-specific EDAR V370A allele appears to be uniquely elevated in North and East Asian and New World populations due to a bout of positive selection likely to have occurred circa 20,000 y ago. The dental pleiotropic effects of this allele suggest an even higher occurrence among indigenous people in the Western Hemisphere before European colonization. We hypothesize that selection on EDAR V370A occurred in the Beringian refugium because it increases mammary ductal branching, and thereby may amplify the transfer of critical nutrients in vitamin D-deficient conditions to infants via mothers’ milk. This hypothesized selective context for EDAR V370A was likely intertwined with selection on the fatty acid desaturase (FADS) gene cluster because it is known to modulate lipid profiles transmitted to milk from a vitamin D-rich diet high in omega-3 fatty acids.
The diversity of vertebrate skeletons is often attributed to adaptations to distinct ecological factors such as diet, locomotion, and sensory environment. Although the adaptive evolution of skull, ...appendicular skeleton, and vertebral column is well studied in vertebrates, comprehensive investigations of all skeletal components simultaneously are rarely performed. Consequently, we know little of how modes of evolution differ among skeletal components. Here, we tested if ecological and phylogenetic effects led to distinct modes of evolution among the cranial, appendicular and vertebral regions in extant carnivoran skeletons. Using multivariate evolutionary models, we found mosaic evolution in which only the mandible, hindlimb and posterior (i.e. last thoracic and lumbar) vertebrae showed evidence of adaptation towards ecological regimes whereas the remaining skeletal components reflect clade-specific evolutionary shifts. We hypothesize that the decoupled evolution of individual skeletal components may have led to the origination of distinct adaptive zones and morphologies among extant carnivoran families that reflect phylogenetic hierarchies. Overall, our work highlights the importance of examining multiple skeletal components simultaneously in ecomorphological analyses. Ongoing work integrating the fossil and palaeoenvironmental record will further clarify deep-time drivers that govern the carnivoran diversity we see today and reveal the complexity of evolutionary processes in multicomponent systems.
Plane-form enamel hypoplasia (PFEH) is a severe dental defect in which large areas of the crown are devoid of enamel. This condition is rare in humans and even rarer in wild primates. The etiology of ...PFEH has been linked to exposure to severe disease, malnutrition, and environmental toxins and associated with systemic conditions. In this study, we examined the prevalence of enamel hypoplasia in several populations of wild Japanese macaques (Macaca fuscata) with the aim of providing context for severe defects observed in macaques from Yakushima Island. We found that 10 of 21 individuals (48%) from Yakushima Island displayed uniform and significant PFEH; all 10 specimens were from two adjacent locations in the south of the island. In contrast, macaques from other islands and from mainland Japan have a low prevalence of the more common types of enamel hypoplasia and none exhibit PFEH. In Yakushima macaques, every tooth type was affected to varying degrees except for first molars and primary teeth, and the mineral content of the remaining enamel in teeth with PFEH was normal (i.e., no hypo- or hypermineralization). The aetiology of PFEH might be linked to extreme weather events or high rates of environmental fluoride-causing enamel breakdown. However, given that the affected individuals underwent dental development during a period of substantial human-related habitat change, an anthropogenic-related etiology seems most likely. Further research on living primate populations is needed to better understand the causes of PFEH in wild primates.
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