The Interaction Between Genetics and Climate on Craniofacial Variation

The Interaction Between Genetics and Climate on Craniofacial Variation PDF Author: Amber Plemons
Publisher:
ISBN:
Category : Electronic dissertations
Languages : en
Pages : 0

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Book Description
Anthropologists have an extensive history using cranial form to measure group relatedness in past and present populations to answer a range of questions concerning population histories and cultural practices. However, most biological distance studies using skeletal remains do not consider extrinsic forces influencing modern human variation. Researchers have explored evolutionary and plastic responses in cranial form using measurements of the cranium and mandible, but these studies generally drew inferences through population comparisons or using inadequate statistical and biological models that so often lead to conflicting findings or confounding interpretations. To fill this gap in our current understanding of modern human variation, I have combined global craniofacial morphological, climatic, and genetic datasets to measure the magnitude and directionality of several climate variables on craniofacial form, while controlling for population structure (e.g., microevolutionary forces and population history). Craniofacial morphological data from the Macromorphoscopic Databank (MaMD) are used in conjunction with microsatellite data from Pemberton (2013), representing populations that overlap in geographic space with those in the MaMD. Finally, climate data from the National Oceanic and Atmospheric Association (NOAA) and Climate Research Unit (CRU) websites were obtained for weather stations in close proximity to populations under study. This combined dataset is used to explore the interaction between climate and genetics on craniofacial variation across 11 geographic regions using a mixed model approach known as Bayesian Sparse Factor Analysis of Genetic Covariance Matrices (BSFG). Data analysis follows the methods described by Katz and colleagues (2016) but expands their study through the exploration of selection processes using additional climate variables, including coldest month and driest month averages and annual ranges of temperature and absolute humidity. Overall, the study found significant correlation between genetic and phenotypic data indicating MMS traits can serve as genetic proxies in biodistance analyses. Several traits had higher heritability estimates (malar tubercle, zygomaticomaxillary suture course, postbregmatic depression and anterior nasal spine). Features associated with the nasal complex and facial breadth, particularly anterior nasal spine, nasal bone contour, and interorbital breadth, had strong associations to climate. These climate findings correspond to previous research on nasal form and environment where cold-dry environments select for high, narrow noses. Further evidence of selective forces in MMS traits are apparent with the reduction of these features in more variable climates where the respiratory system experiences less stress. The evolutionary mechanisms behind craniometric data have been explored extensively. Such studies use a full suite of traits that capture overall size and shape of the human cranium; however, MMS traits focus on macroscopic assessments primarily in the midfacial skeleton. MMS trait data are particularly important for expanding our understanding of natural selection whereby a large portion of cranial evolutionary research has centered around the neutral evolutionary processes. The wealth of research demonstrating the nasal complex is highly responsive to climate due to respiratory stress emphasizes the importance of exploring the proportion of genetics and environments on MMS trait manifestation. This project provides an evolutionary foundation of the neutral evolutionary and selection processes controlling systematic patterns of global craniofacial variation in the Macromorphoscopic Databank (MaMD).

The Interaction Between Genetics and Climate on Craniofacial Variation

The Interaction Between Genetics and Climate on Craniofacial Variation PDF Author: Amber Plemons
Publisher:
ISBN:
Category : Electronic dissertations
Languages : en
Pages : 0

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Book Description
Anthropologists have an extensive history using cranial form to measure group relatedness in past and present populations to answer a range of questions concerning population histories and cultural practices. However, most biological distance studies using skeletal remains do not consider extrinsic forces influencing modern human variation. Researchers have explored evolutionary and plastic responses in cranial form using measurements of the cranium and mandible, but these studies generally drew inferences through population comparisons or using inadequate statistical and biological models that so often lead to conflicting findings or confounding interpretations. To fill this gap in our current understanding of modern human variation, I have combined global craniofacial morphological, climatic, and genetic datasets to measure the magnitude and directionality of several climate variables on craniofacial form, while controlling for population structure (e.g., microevolutionary forces and population history). Craniofacial morphological data from the Macromorphoscopic Databank (MaMD) are used in conjunction with microsatellite data from Pemberton (2013), representing populations that overlap in geographic space with those in the MaMD. Finally, climate data from the National Oceanic and Atmospheric Association (NOAA) and Climate Research Unit (CRU) websites were obtained for weather stations in close proximity to populations under study. This combined dataset is used to explore the interaction between climate and genetics on craniofacial variation across 11 geographic regions using a mixed model approach known as Bayesian Sparse Factor Analysis of Genetic Covariance Matrices (BSFG). Data analysis follows the methods described by Katz and colleagues (2016) but expands their study through the exploration of selection processes using additional climate variables, including coldest month and driest month averages and annual ranges of temperature and absolute humidity. Overall, the study found significant correlation between genetic and phenotypic data indicating MMS traits can serve as genetic proxies in biodistance analyses. Several traits had higher heritability estimates (malar tubercle, zygomaticomaxillary suture course, postbregmatic depression and anterior nasal spine). Features associated with the nasal complex and facial breadth, particularly anterior nasal spine, nasal bone contour, and interorbital breadth, had strong associations to climate. These climate findings correspond to previous research on nasal form and environment where cold-dry environments select for high, narrow noses. Further evidence of selective forces in MMS traits are apparent with the reduction of these features in more variable climates where the respiratory system experiences less stress. The evolutionary mechanisms behind craniometric data have been explored extensively. Such studies use a full suite of traits that capture overall size and shape of the human cranium; however, MMS traits focus on macroscopic assessments primarily in the midfacial skeleton. MMS trait data are particularly important for expanding our understanding of natural selection whereby a large portion of cranial evolutionary research has centered around the neutral evolutionary processes. The wealth of research demonstrating the nasal complex is highly responsive to climate due to respiratory stress emphasizes the importance of exploring the proportion of genetics and environments on MMS trait manifestation. This project provides an evolutionary foundation of the neutral evolutionary and selection processes controlling systematic patterns of global craniofacial variation in the Macromorphoscopic Databank (MaMD).

Gene-environment Interactions in Common Craniofacial Malformations

Gene-environment Interactions in Common Craniofacial Malformations PDF Author: Joshua Lucas Everson
Publisher:
ISBN:
Category :
Languages : en
Pages : 157

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Book Description
Unraveling the complex interactions between genetic and environmental influences that cause birth defects is necessary for identifying sensitive populations and developing prevention strategies. This dissertation focuses on two etiologically-complex and debilitating human craniofacial birth defects, orofacial clefts (OFCs) of the lip and palate and holoprosencephaly (HPE). The objective of this body of work was to identify specific etiologically-relevant genetic and environmental factors and to investigate their interaction in the genesis of these birth defects. These studies focused upon Sonic Hedgehog (Shh) signaling because this pathway is a critical regulator of craniofacial morphogenesis and is sensitive to both genetic and environmental disruption. First, complementary in vivo and in vitro models of Shh pathway modulation were utilized to identify Shh pathway targets in the cranial neural crest-mesenchyme of the facial growth centers that form the upper lip. Comparative transcriptomic analysis identified biological processes regulated by Shh signaling during facial morphogenesis, including previously unrecognized roles in perivascular biology and angiogenesis. This approach also identified several Shh-regulated genes that serve as candidate human orofacial clefting genes. Illustrating the utility of this approach, we demonstrated that Shh directly regulates Foxf2 which drives cranial neural crest cell proliferation during lip morphogenesis and cleft pathogenesis, and that polymorphisms in FOXF2 are associated with cleft lip in humans. We then investigated specific gene-environment interactions in the genesis of HPE, a malformation of the forebrain that commonly co-occurs with OFCs. We demonstrated for the first time that homozygous mutations in the Shh pathway transcriptional activator Gli2 cause HPE in the mouse, and that normally-silent, single-allele Gli2 mutations lower the threshold for teratogen-induced HPE. These findings set the stage for investigating the teratogenic potential of environmentally-relevant Shh pathway inhibitors. We focused upon the pesticide synergist piperonyl butoxide (PBO) because this compound was reported to inhibit the Shh pathway, has widespread and increasing commercial and household use, and had not been rigorously examined for potential developmental toxicity. We confirmed that PBO is a potent inhibitor of the Shh pathway and that a single dose targeted to forebrain and face development causes full blown HPE in the mouse. Highlighting potential gene-environment interactions, we also demonstrated that the teratogenic effect of PBO is exacerbated in mice with normally-silent, single allele mutations in Shh. Dose-response assays demonstrated a lowest observable effect level for PBO-induced malformations more than 30-fold lower than the value currently utilized in risk assessment. These findings illuminate the etiological complexity of OFCs and HPE and provide a framework to understand how variable outcomes--from apparently normal to severely affected-- are often observed in a single human pedigree. By providing specific genetic and environmental risk factors, these studies also inform prevention strategies based upon identification of sensitive populations and specific interacting environmental factors.

Human Craniofacial Variation and Dental Anomalies: An anthropological investigation into the relationship between human craniometric variation and the expression of orthodontic anomalies

Human Craniofacial Variation and Dental Anomalies: An anthropological investigation into the relationship between human craniometric variation and the expression of orthodontic anomalies PDF Author: Joseph R Krecioch
Publisher: diplom.de
ISBN: 3954898292
Category : Medical
Languages : en
Pages : 194

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Book Description
Dental anomalies of number, shape, and position are frequently analysed in the orthodontic and clinical literature but are rarely discussed in an anthropological or archaeological context. Dental anomalies and occlusal disorders are often hypothesised to be the result of a modern, urbanised lifestyle as a response to reduced masticatory stress and subsequent crowding of the dentition. This study of skulls from Classical to medieaval Macedonia and England examines the relationship between craniofacial variation and the expression of dental anomalies. Standard craniometric measurements were taken to estimate relative sizes of cranial functional complexes and determine whether or not, or to what extent, changes in the shape or size of these variables were associated with the expression of dental anomalies. Statistical analyses determined that the null hypothesis, that there is no relationship between craniometrics and dental anomalies, can be rejected. A number of dental anomalies were found to have a relationship with reduced sizes in cranial and masticatory elements, although dental crowding was not as significant a factor in masticatory complex reduction. A cause and effect relationship cannot be determined but the data presented here suggests that both heredity and environmental causes may be influential in the expression of dental anomalies.

Scientific Frontiers in Developmental Toxicology and Risk Assessment

Scientific Frontiers in Developmental Toxicology and Risk Assessment PDF Author: National Research Council
Publisher: National Academies Press
ISBN: 0309070864
Category : Nature
Languages : en
Pages : 348

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Book Description
Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.

Craniofacial Development

Craniofacial Development PDF Author: Peter Thorogood
Publisher:
ISBN:
Category : Bones
Languages : en
Pages : 274

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Book Description


Three-Dimensional Imaging for Orthodontics and Maxillofacial Surgery

Three-Dimensional Imaging for Orthodontics and Maxillofacial Surgery PDF Author: Chung H. Kau
Publisher: John Wiley & Sons
ISBN: 1444347640
Category : Medical
Languages : en
Pages : 359

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Book Description
Three Dimensional Imaging for Orthodontics and Maxillofacial Surgery is a major new specialist resource that identifies and applies the principles of three dimensional imaging to orthodontic practice. Readers are introduced to three-dimensional imaging, comparing it with the traditional two-dimensional assessments and exploring the benefits and drawbacks of these imaging modalities. Three Dimensional Imaging for Orthodontics and Maxillofacial Surgery centers on the appropriate application of three-dimensional imaging in the various practices related to orthodontic delivery and craniofacial surgery. The book guides the reader through detailed and illustrated examples of three-dimensional patient management in the context of daily practice. Both three-dimensional static and motion analyses are explored. The book also addresses growth, orthodontic treatment and surgical prediction, both static and dynamic and explores the use of morphing and finite element analyses with particular focus on surgical intervention. A key resource for specialist working in the fields of orthodontics and cranio-maxillofacial surgery. KEY FEATURES · Applies principles of 3D imaging to orthodontic practice · Surveys and analyzes current technologies and modalities, relating them to clinical usage · Companion website with motion images ( www.wiley.com/go/kau) · Richly illustrated in full color throughout · Brings together expert contributors for an international perspective

Research Grants Index

Research Grants Index PDF Author: National Institutes of Health (U.S.). Division of Research Grants
Publisher:
ISBN:
Category : Medicine
Languages : en
Pages : 1360

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Research Awards Index

Research Awards Index PDF Author:
Publisher:
ISBN:
Category : Medicine
Languages : en
Pages : 826

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Book Description


Patterns of Human Growth

Patterns of Human Growth PDF Author: Barry Bogin
Publisher: Cambridge University Press
ISBN: 9780521564380
Category : Medical
Languages : en
Pages : 476

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Book Description
A revised edition of an established text on human growth and development from an anthropological and evolutionary perspective.

Oral Health in America

Oral Health in America PDF Author:
Publisher:
ISBN:
Category : Dental public health
Languages : en
Pages : 32

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Book Description