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This study aims to expand our understanding of the genetic architecture of crown morphology in the human diphyodont dentition. Here, we present bivariate genetic correlation estimates for deciduous and permanent molar traits and evaluate the patterns of pleiotropy within (e.g., m1-m2) and between (e.g., m2-M1) dentitions. Morphology was observed and scored from dental models representing participants of an Australian twin and family study (deciduous n = 290, permanent n = 339). Data collection followed Arizona State University Dental Anthropology System standards. Genetic correlation estimates were generated using maximum likelihood variance components analysis in SOLAR v.8.1.1. Approximately 23% of deciduous variance components models and 30% of permanent variance components models yielded significant genetic correlation estimates. By comparison, over half (56%) of deciduous-permanent homologues (e.g., m 2 hypocone-M 1 hypocone) were significantly genetically correlated. It is generally assumed that the deciduous and permanent molars represent members of a meristic molar field emerging from the primary dental lamina. However, stronger genetic integration among m2-M1/M2 homologues than among paired deciduous traits suggests the m2 represents the anterior-most member of a "true" molar field. The results indicate genetic factors act at distinct points throughout development to generate homologous molar form, starting with the m2, which is later replaced by a permanent premolariform crown.

Objective: This study presents a quantitative genetic analysis of human anterior dental morphology in a longitudinal sample of known genealogy. The primary aim of this work is to generate a suite of genetic correlations within and between deciduous and permanent characters to access patterns of integration across the diphyodont dental complex., Design: Data were recorded from casted tooth crowns representing participants of a long-term Australian twin and family study (deciduous n = 290, permanent n = 339). Morphological trait expression was observed and scored following Arizona State University Dental Anthropology System standards. Bivariate genetic correlations were estimated using maximum likelihood variance decomposition models in SOLAR v.8.1.1., Results: Genetic correlation estimates indicate high levels of integration between antimeres but low to moderate levels among traits within a tooth row. Only 9% of deciduous model comparisons were significant, while pleiotropy was indicated for one third of permanent trait pairs. Canine characters stood out as strongly integrated, especially in the deciduous dentition. For homologous characters across dentitions (e.g., deciduous i 1 shoveling and permanent I 1 shoveling), ∼70% of model comparisons yielded significant genetic correlations., Conclusions: Patterns of genetic correlation suggest a morphological canine module that spans the primary and secondary dentition. Results also point to the existence of a genetic mechanism conserving morphology across the diphyodont dental complex, such that paired deciduous and permanent traits are more strongly integrated than characters within individual tooth rows/teeth., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

The aim of this review is to highlight some key recent developments in studies of tooth number, size and shape that are providing better insights into the roles of genetic, environmental and epigenetic factors in the process of dental development. Advances in molecular genetics are helping to clarify how epigenetic factors influence the spatial and temporal regulation of the complex processes involved in odontogenesis. At the phenotypic level, the development of sophisticated systems for image analysis is enabling new dental phenotypes to be defined. The 2D and 3D data that are generated by these imaging systems can then be analysed with mathematical approaches, such as geometric morphometric analysis. By gathering phenotypic data and DNA from twins, it is now possible to use 'genome-wide' association studies and the monozygotic co-twin design to identify important genes in odontogenesis and also to clarify how epigenetic and environmental factors can affect this process. Given that many of the common dental anomalies affecting the human dentition are interrelated, apparently reflecting pleiotropic genetic effects, the discoveries and new directions described in this paper should have important implications for clinical dental practice in the future.

This paper reviews the concept of morphogenetic fields within the dentition that was first proposed by Butler (Butler PM. Studies of the mammalian dentition. Differentiation of the post-canine dentition. Proc Zool Soc Lond B 1939;109:1-36), then adapted for the human dentition by Dahlberg (Dahlberg AA. The changing dentition of man. J Am Dent Assoc 1945;32:676-90; Dahlberg AA. The dentition of the American Indian. In: Laughlin WS, editor. The Physical Anthropology of the American Indian. New York: Viking Fund Inc.; 1951. p. 138-76). The clone theory of dental development, proposed by Osborn (Osborn JW. Morphogenetic gradients: fields versus clones. In: Butler PM, Joysey KA, editors Development, function and evolution of teeth. London: Academic Press, 1978. p. 171-201), is then considered before these two important concepts are interpreted in the light of recent findings from molecular, cellular, genetic and theoretical and anthropological investigation. Sharpe (Sharpe PT. Homeobox genes and orofacial development. Connect Tissue Res 1995;32:17-25) put forward the concept of an odontogenic homeobox code to explain how different tooth classes are initiated in different parts of the oral cavity in response to molecular cues and the expression of specific groups of homeobox genes. Recently, Mitsiadis and Smith (Mitsiadis TA, Smith MM. How do genes make teeth to order through development? J Exp Zool (Mol Dev Evol) 2006; 306B:177-82.) proposed that the field, clone and homeobox code models could all be incorporated into a single model to explain dental patterning. We agree that these three models should be viewed as complementary rather than contradictory and propose that this unifying view can be extended into the clinical setting using findings on dental patterning in individuals with missing and extra teeth. The proposals are compatible with the unifying aetiological model developed by Brook (Brook AH. A unifying aetiological explanation for anomalies of tooth number and size. Archs Oral Biol 1984;29:373-78) based on human epidemiological and clinical findings. Indeed, this new synthesis can provide a sound foundation for clinical diagnosis, counselling and management of patients with various anomalies of dental development as well as suggesting hypotheses for future studies.

Two metaphors are presented to highlight concepts that could lead to a paradigm shift in dental studies of twins. The first, derived from the Song of Solomon in the Bible, refers to teeth as being twins. This viewpoint emphasises that each tooth should be viewed as a paired structure, not only with its antimere (within the same arch) but also with its isomer (in the opposing arch). The other metaphor provided by Waddington in 1957 is visual and involves 'an epigenetic landscape' that represents the processes of decision-making by cells during development. It likens the different stages of cellular decision-making to a ball rolling down an undulating landscape of interconnecting hills and valleys. This viewpoint helps to explain how distinct differences in dental phenotypes may arise both within and between monozygotic (MZ) co-twins due to relatively minor temporospatial effects during development. Measurements of maximum mesiodistal diameters of teeth in a pair of MZ twins, using calipers and also 2D and 3D imaging systems, have demonstrated that differences in dental crown size occur between antimeric pairs and between corresponding teeth of MZ co-twins. By defining new dental phenotypes that provide more comprehensive descriptions of tooth size and shape, and by drawing on the metaphors described, we are confident of providing new insights into the reasons for observed similarities and differences within, and between, the dentitions of twins. Our approaches will focus on multivariate analyses that take into account the paired arrangement of teeth and also explore epigenetic, as well as genetic and environmental, sources of variation., (Copyright (c) 2009 S. Karger AG, Basel.)

Background: Three-dimensional measurement of dental morphology is providing new variables and shape information not available previously, and the reliability of these data has proved to be substantial. Accurate superimposition of 2D and 3D data-sets has several applications in dental research when making comparisons of similar structures. For example, two data-sets of the same object can be superimposed to highlight differences apparent in limited region(s) of the tooth crown. When significant regions represented by the two data-sets are identical, registration of the images can be achieved by standard superimposition methods. However, for comparisons of crown morphologies between monozygotic and dizygotic co-twins, the data sets are similar but not identical so a new approach to superimposition has been developed., Aim: To develop a non 'best fit' (Synetic) method for the 3D superimposition of non-similar objects that forms one comparable interface providing enhanced methodology for the analysis of differences within the dentition of twins., Method: A minimised least-squares registration approach is followed by diffusion based registration to provide global minimisation between points that is not based on a best fit algorithm. This process is linear and therefore the method ensures uniqueness of the superimposition., Results: Initial results indicate a reliable method producing only one output as opposed to best fit approaches that may generate a different output each time., Conclusion: Diffusion-based registration offers a more reliable approach to superimposing non-identical objects, such as the tooth crowns of monozygotic co-twins, than conventional best-fit methods., (Copyright (c) 2009 S. Karger AG, Basel.)

Objective: To assess the reproducibility of a mobile non-contact camera-based digital imaging system (DIS) for measuring tooth colour under in vitro and in vivo conditions., Methods: One in vitro and two in vivo studies were performed using a mobile non-contact camera-based digital imaging system. In vitro study: two operators used the DIS to image 10 dry tooth specimens in a randomised order on three occasions. In vivo study 1:25 subjects with two natural, normally aligned, upper central incisors had their teeth imaged using the DIS on four consecutive days by one operator to measure day-to-day variability. On one of the four test days, duplicate images were collected by three different operators to measure inter- and intra-operator variability. In vivo study 2:11 subjects with two natural, normally aligned, upper central incisors had their teeth imaged using the DIS twice daily over three days within the same week to assess day-to-day variability. Three operators collected images from subjects in a randomised order to measure inter- and intra-operator variability., Results: Subject-to-subject variability was the largest source of variation within the data. Pairwise correlations and concordance coefficients were > 0.7 for each operator, demonstrating good precision and excellent operator agreement in each of the studies. Intraclass correlation coefficients (ICCs) for each operator indicate that day-to-day reliability was good to excellent, where all ICC's where > 0.75 for each operator., Conclusion: The mobile non-contact camera-based digital imaging system was shown to be a reproducible means of measuring tooth colour in both in vitro and in vivo experiments.