CE12 - Génétique, génomique et ARN

Tracking the evolution of human craniodental structures – GenoMorph

GenoMorph – Tracking the evolution of human craniodental structures

Recent advances in comparative cranial and dental structural morphology of extinct and extant hominins demonstrated that valuable (paleo)biological information can be extracted from their mineralized tissues for assessing taxonomy, evolutionary pathways and phylogenetic relationships. Substantial genetic component likely explains the variation of many of their morphological features. However, the genomic architecture of craniodental structures remains vastly unknown in humans.

Uncovering the relationships between genotype and phenotype in craniodental structures

Comprehending the relationship between genotype and phenotype is the keystone in evolutionary biology and will allow us to shed new lights on the study of the paleoanthropological record. The GenoMorph project is based on a multidisciplinary approach mixing (paleo)genetics and morphological data based on X-ray virtual imaging. This research program aims to better understand the genetic mechanisms underlying the evolution of human craniodental structures.<br />The field of craniodental phenomics, an emerging frontier in biology that regards the interplay between genes, development and morphology, provides new opportunities to elucidate the roles of the genetic component in bone and tooth structural organization through extensive and intensive phenotyping. With this respect, GenoMorph will couple state-of-the-art genetic analyses and virtual imaging techniques to correlate molecular and morphological information. By relying upon the collaboration among specialists in (paleo)anthropology, odontology, (paleo)genetics, computational biology, virtual imaging and biostatistics, we aim to provide the first multidisciplinary approach to investigate the genetic architecture underlying the human cranial and dental organization based on a number of morphostructural features - i.e., cranial vault thickness, skull and endocranium shape, crown and root tissue proportions, enamel-dentine junction conformation - by crossing genetic and morphological data extracted from the same individuals we aim to test hypotheses on living humans and build models on genotype-phenotype relationships to infer evolutionary changes in our lineage.

The cohort of patients will be constituted on voluntary participation of adult individuals of both sexes and following an established ethic protocol of strict confidentiality. They will be recruited among the citizens recorded in the French public health care system. The volunteers will be informed beforehand in details about the aims of this pilot research program and granted that the collected data will be anonymized and used only for scientific purposes. Once a participant will agree, a written informed consent form will be signed between him/her and the institutions involved in the project. The 3,000 participants estimated here will represent one of the largest cohorts ever investigated for this kind of genotype/phenotype studies. Half of the participants will be recruited for the study of cranial structures among the patients which have been previously independently prescribed a 3D computed tomography (CT) and the other half of the cohort will be selected for the study of dental structures among volunteers who were prescribed a high-resolution cone-beam (CBCT) of the jaw. Various French institutions are involved in the project (University Hospital of Bordeaux, Dental Faculties of Bordeaux and Toulouse, Medical Imaging Center of Bordeaux, Rangueil Hospital and Pasteur Clinic of Toulouse, Lille Catholic Hospitals), thus maximizing the success of data sampling.

The innovative combination of genomic analyses and craniodental quantitative morphology assessed in a large and representative extant human sample and the complementary integration of original evidence from the paleoanthropological record will provide a solid background for reliably testing hypotheses about the evolutionary processes having shaped our skull and teeth. There is a huge potential for the detection of high-effect variants and for the discovery of new candidate genes throughout our research program. But the most promising research track likely regards the joined extraction and one-to-one comparison of the genetic and the morphostructural signals, to unveil their intimate links and to provide a comprehensive understanding on the genomic architecture underlying craniodental morphology and the evolutionary processes at play during the course of human evolution. Another valuable outcome concerns the potential applications of the results in forensic sciences.

In addition to to the results and applications of GenoMorph to the study of human evolution, the identification of genes affecting morphology may reveal new gene candidates potentially involved in developmental disorders. Identifying such genes and possible mutations would open new avenues to novel management strategies to treat these disorders and thus lead to promising discoveries with medical applications.

Scientific papers are expected to be published in high-impact international peer-reviewed journals.

Recent advances in comparative cranial and dental structural morphology of extinct and extant hominins demonstrated that valuable (paleo)biological information can be extracted from their mineralized tissues for assessing taxonomy, evolutionary pathways and phylogenetic relationships. Substantial genetic component likely explains the variation of many of their morphological features. However, the genomic architecture of craniodental structures remains vastly unknown in humans. Comprehending the relationship between genotype and phenotype is the keystone in evolutionary biology and will allow us to shed new lights on the study of the paleoanthropological record. The GenoMorph project is based on a multidisciplinary approach mixing (paleo)genetics and morphological data based on X-ray virtual imaging. This research program aims to better understand the genetic mechanisms underlying the evolution of human craniodental structures.

Project coordination

Clément Zanolli (DE LA PREHISTOIRE A L'ACTUEL : CULTURE, ENVIRONNEMENT ET ANTHROPOLOGIE)

The author of this summary is the project coordinator, who is responsible for the content of this summary. The ANR declines any responsibility as for its contents.

Partner

PACEA DE LA PREHISTOIRE A L'ACTUEL : CULTURE, ENVIRONNEMENT ET ANTHROPOLOGIE
EA4490 PHYSIOPATHOLOGIE DES MALADIES OSSEUSES INFLAMMATOIRES
Clinique Pasteur de Toulouse / Radiologie
CENTRE D IMAGERIE MEDICALE / Radiologie
AMIS ANTHROPOLOGIE MOLECULAIRE ET IMAGERIE DE SYNTHESE
CEA - CNRGH CEA - Centre National de Recherche en Génomique Humaine
Pôle Spécialités Chirurgicales
The Open University / Faculty of Science, Technology, Engineering & Mathematics, School of Mathematics and Statistics
National University of La Plata / División Antropología
University College of London / Genetics, Evolution & Environment
University of the Witwatersrand / School of Geography, Archaeology and Environmental Sciences

Help of the ANR 302,672 euros
Beginning and duration of the scientific project: April 2021 - 42 Months

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