Variation in the fusion sequence of primary and secondary ossification centers in the human skeleton.

OBJECTIVES: One of the biggest challenges for biological anthropologists is determining the minimum number of individuals in commingled skeletal samples in forensic or bioarcheological contexts. The fusion sequence of primary and secondary ossification centers is a promising, yet under-explored, process to improve identification of associated remains of subadults and young adults, but is limited by the lack of understanding of population variation in this aspect of human development. While prior studies show within-population variation in fusion sequence, possible geographic variation has not been systematically explored. MATERIALS AND METHODS: To explore potential variation in fusion sequence in different populations, we analyzed eight skeletal samples of East Asian, North American, African, and European ancestry. Forty-three epiphyses were cross tabulated to determine the order of beginning and completing fusion for each geographic group. Results were distilled into modal sequence (most common order) trajectories, including the variation around the modal sequence. RESULTS: Population variation occurs within and across all geographic groups, especially in later fusing sites. Some sites, such as the acromion and sacral elements, consistently exhibit greater variability. Among outliers from the modal sequence, it is more common for early-fusing sites to fuse late than for later-fusing sites to fuse early. The completing fusion trajectories vary less than the beginning fusion trajectories. DISCUSSION: Despite considerable variation within and among different geographic groups, there are shared commonalities across different samples that can facilitate differentiation of multiple individuals. With fewer outliers, the completing fusion trajectories are potentially of greater practical use in forensic and bioarcheological practice.

Timing of Development of the Permanent Mandibular Dentition: New Reference Values from the Fels Longitudinal Study.

Estimating chronological age or assessing the rate of maturation in immature individuals is an important task in biological anthropology and clinical practice. One of the most reliable ways of doing this is by evaluating one's dental development, specifically tooth mineralization. However, few chronologies include reference values for very young children, and few provide an extensive documentation of the range of variation surrounding the reported reference values. We present a new chronology of development of permanent mandibular canine and postcanine teeth from birth through age 28 years, based on over 6,000 radiographs of 590 participants of the Fels Longitudinal Study, recorded between 1940 and 1982. Tooth mineralization was scored following the 14-stage system of Moorrees, Fanning, and Hunt (Moorrees et al., 1963a) with an additional crypt stage. We calculated ages of attainment, as well as average age in stage, using transition analysis. We find that variation increases throughout ontogeny for all teeth, though it is generally comparable between girls and boys. The tempo of dental development tends to be faster in girls. Compared to the classic chronology of Moorrees et al. (1963a), partly based on Fels radiographs, in our sample the development of crowns tends to occur at earlier, and development of roots at increasingly later ages. Our results are more similar to chronologies based on more recent, clinical samples (Liversidge, 2009), though the development of tooth roots in our sample occurs at older ages. Anat Rec, 302:1733-1753, 2019. © 2019 American Association for Anatomy.

An analysis of dental development in Pleistocene Homo using skeletal growth and chronological age.

OBJECTIVES: This study takes a new approach to interpreting dental development in Pleistocene Homo in comparison with recent modern humans. As rates of dental development and skeletal growth are correlated given age in modern humans, using age and skeletal growth in tandem yields more accurate dental development estimates. Here, I apply these models to fossil Homo to obtain more individualized predictions and interpretations of their dental development relative to recent modern humans. MATERIALS AND METHODS: Proportional odds logistic regression models based on three recent modern human samples (N = 181) were used to predict permanent mandibular tooth development scores in five Pleistocene subadults: Homo erectus/ergaster, Neanderthals, and anatomically modern humans (AMHs). Explanatory variables include a skeletal growth indicator (i.e., diaphyseal femoral length), and chronological age. RESULTS: AMHs Lagar Velho 1 and Qafzeh 10 share delayed incisor development, but exhibit considerable idiosyncratic variation within and across tooth types, relative to each other and to the reference samples. Neanderthals Dederiyeh 1 and Le Moustier 1 exhibit delayed incisor coupled with advanced molar development, but differences are reduced when femoral diaphysis length is considered. Dental development in KNM-WT 15,000 Homo erectus/ergaster, while advanced for his age, almost exactly matches the predictions once femoral length is included in the models. DISCUSSION: This study provides a new interpretation of dental development in KNM-WT 15000 as primarily reflecting his faster rates of skeletal growth. While the two AMH specimens exhibit considerable individual variation, the Neanderthals exhibit delayed incisor development early and advanced molar development later in ontogeny.

Heritability of the Human Craniofacial Complex.

Quantifying normal variation and the genetic underpinnings of anatomical structures is one of the main goals of modern morphological studies. However, the extent of genetic contributions to normal variation in craniofacial morphology in humans is still unclear. The current study addresses this gap by investigating the genetic underpinnings of normal craniofacial morphology. The sample under investigation consists of 75 linear and angular measurements spanning the entire craniofacial complex, recorded from lateral cephalographs of 1,379 participants in the Fels Longitudinal Study. Heritabilities for each trait were estimated using SOLAR, a maximum-likelihood variance components approach utilizing all pedigree information for parameter estimation. Trait means and mean effects of the covariates age, sex, age(2) , sex × age, and sex × age(2) were simultaneously estimated in the analytic models. All traits of the craniofacial complex were significantly heritable. Heritability estimates ranged from 0.10 to 0.60, with the majority being moderate. It is important to note that we found similar ranges of heritability occurring across the different functional/developmental components of the craniofacial complex, the splanchnocranium, the basicranium, and the neurocranium. This suggests that traits from different regions of the craniofacial complex are of comparable utility for the purposes of population history and phylogeny reconstruction. At the same time, this genetic influence on craniofacial morphology signals a caution to researchers of nongenetic studies to consider the implications of this finding when selecting samples for study given their project design and goals.

Relationship between dental development and skeletal growth in modern humans and its implications for interpreting ontogeny in fossil hominins.

Dental development and skeletal growth are central aspects used by anthropologists when investigating the ontogeny of a population or species. The interrelatedness of the two phenomena is often assumed to be high, but the nature of their relationship is obscured by the fact that they are both highly dependent upon chronological age. The exact relationship between the tempo of dental development and skeletal growth is unclear even in modern humans, which limits the ability to extrapolate to archaeological or fossil forms. It is clear that the influence of chronological age on these two aspects of ontogeny must be accounted for before examining their relationship to one another. This study tests whether dental development and skeletal growth are conditionally independent given age using known-age modern human skeletal samples and proportional odds logistic regression. The results suggest that dental development and skeletal growth are moderately correlated and thus not conditionally independent given age. That is, individuals that are dentally advanced relative to their peers also tend to be skeletally advanced. However, this relationship is moderate at best, so dental development does not appear to be a highly reliable proxy for skeletal growth, or vice versa, in modern humans. These findings have implications for the reconstruction of ontogeny and life history of fossil hominin taxa, since the pace of dental development is often used as a life history proxy. Implications of this study suggest that the proposed accelerated dental development in Pleistocene hominins was not necessarily accompanied by faster skeletal growth.

Skeletal growth and the changing genetic landscape during childhood and adulthood.

Growth, development, and decline of the human skeleton are of central importance to physical anthropology. All processes of skeletal growth (longitudinal growth as well as gains and losses of bone mass) are subjected to environmental and genetic influences. These influences, and their relative contributions to the phenotype, can be asserted at any stage of life. We present here the gross phenotypic and genetic landscapes of four skeletal traits, and show how they vary across the life span. Phenotypic sex differences are found in bone diameter and cortical index (a ratio of cortical thickness over bone diameter) at a very early age and continue throughout most of life. Sexual dimorphism in summed cortical thickness and bone length, however, is not evident until shortly after the pubertal growth spurt. Genetic contributions (heritability) to these skeletal phenotypes are generally moderate to high. Bone length and bone diameter (which both scale with body size) tend to have the highest heritability, with heritability of bone length fairly stable across ages (with a notable dip in early childhood) and that of bone diameter peaking in early childhood. The bone traits summed cortical thickness and cortical index that may better reflect bone mass, a more plastic phenomenon, have slightly lower genetic influences, on average. Results from our phenotypic and genetic landscapes serve three key purposes: 1) demonstration of the integrated nature of the genetic and environmental underpinnings of skeletal form, 2) identification of periods of bone's relative sensitivity to genetic and environmental influences, 3) and stimulation of hypotheses predicting the effects of exposure to environmental variables on the skeleton, given variation in the underlying genetic architecture.

The influence of age at menarche on cross-sectional geometry of bone in young adulthood.

Elucidating the somatic and maturational influences on the biomechanical properties of bone in children is crucial for a proper understanding of bone strength and quality in childhood and later life, and has significant potential for predicting adult fracture and osteoporosis risks. The ability of a long bone to resist bending and torsion is primarily a function of its cross-sectional geometric properties, and is negatively impacted by smaller external bone diameter. In pubescent girls, elevated levels of estrogen impede subperiosteal bone growth and increase endosteal bone deposition, resulting in bones averaging a smaller external and internal diameter relative to boys. In addition, given a well-documented secular trend for an earlier menarche, the age at which the rate of subperiosteal bone deposition decreases may also be younger in more recent cohorts of girls. In this study we examined the relationship between pubertal timing and subsequent bone strength in girls. Specifically, we investigated the effects of age at menarche on bone strength indicators (polar moment of inertia and section modulus) determined from cross-sectional geometry of the second metacarpal (MC2) using data derived from serial hand-wrist radiographs of female participants (N=223) in the Fels Longitudinal Study, with repeated measures of MC2 between the ages of 7 and 35 years. Using multivariate regression models, we evaluated the effects of age at menarche on associations between measures of bone strength in early adulthood and the same measures at a prepubertal age. Results indicate that later age at menarche is associated with stronger adult bone (in torsion and bending) when controlling for prepubertal bone strength (R(2) ranged between 0.54 and 0.70, p<0.001). Since cross-sectional properties of bone in childhood may have long lasting implications, they should be considered along with pubertal timing in assessing risk for future fracture and in clinical recommendations.

Cortical bone health shows significant linkage to chromosomes 2p, 3p, and 17q in 10-year-old children.

Genes play an important role in lifelong skeletal health. Genes that influence bone building during childhood have the potential to affect bone health not only throughout childhood but also into adulthood. Given that peak bone mass is a significant predictor of adult fracture risk, it is imperative that the genetic underpinnings of the normal pediatric skeleton are uncovered. In a sample of 600 10-year-old children from 144 families in the Fels Longitudinal Study, we examined radiographic cortical bone measures of the second metacarpal. Morphometic measurements included bone width, medial and lateral cortical thicknesses, and the calculated cortical index representing the amount of cortex relative to bone width. We then conducted genome-wide linkage analysis on these traits in 440 genotyped individuals using the SOLAR analytic platform. Significant quantitative trait loci (QTL) were identified for bone traits on three separate chromosomes. A QTL for medial cortical thickness was localized to chromosome 2p25.2. A QTL for lateral cortical thickness was localized to chromosomal region 3p26.1-3p25.3. Finally, a QTL detected for cortical index was localized to the 17q21.2 chromosomal region. Each region contains plausible candidate genes for pediatric skeletal health, some of which confirm findings from studies of adulthood bone, and for others represent novel candidate genes for skeletal health.