Cargando…

Inferring human neutral genetic variation from craniodental phenotypes

There is a growing consensus that global patterns of modern human cranial and dental variation are shaped largely by neutral evolutionary processes, suggesting that craniodental features can be used as reliable proxies for inferring population structure and history in bioarchaeological, forensic, an...

Descripción completa

Detalles Bibliográficos
Autores principales: Rathmann, Hannes, Perretti, Silvia, Porcu, Valentina, Hanihara, Tsunehiko, Scott, G Richard, Irish, Joel D, Reyes-Centeno, Hugo, Ghirotto, Silvia, Harvati, Katerina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10338903/
https://www.ncbi.nlm.nih.gov/pubmed/37457893
http://dx.doi.org/10.1093/pnasnexus/pgad217
_version_ 1785071730714214400
author Rathmann, Hannes
Perretti, Silvia
Porcu, Valentina
Hanihara, Tsunehiko
Scott, G Richard
Irish, Joel D
Reyes-Centeno, Hugo
Ghirotto, Silvia
Harvati, Katerina
author_facet Rathmann, Hannes
Perretti, Silvia
Porcu, Valentina
Hanihara, Tsunehiko
Scott, G Richard
Irish, Joel D
Reyes-Centeno, Hugo
Ghirotto, Silvia
Harvati, Katerina
author_sort Rathmann, Hannes
collection PubMed
description There is a growing consensus that global patterns of modern human cranial and dental variation are shaped largely by neutral evolutionary processes, suggesting that craniodental features can be used as reliable proxies for inferring population structure and history in bioarchaeological, forensic, and paleoanthropological contexts. However, there is disagreement on whether certain types of data preserve a neutral signature to a greater degree than others. Here, we address this unresolved question and systematically test the relative neutrality of four standard metric and nonmetric craniodental data types employing an extensive computational genotype–phenotype comparison across modern populations from around the world. Our computation draws on the largest existing data sets currently available, while accounting for geographically structured environmental variation, population sampling uncertainty, disparate numbers of phenotypic variables, and stochastic variation inherent to a neutral model of evolution. Our results reveal that the four data types differentially capture neutral genomic variation, with highest signals preserved in dental nonmetric and cranial metric data, followed by cranial nonmetric and dental metric data. Importantly, we demonstrate that combining all four data types together maximizes the neutral genetic signal compared with using them separately, even with a limited number of phenotypic variables. We hypothesize that this reflects a lower level of genetic integration through pleiotropy between, compared to within, the four data types, effectively forming four different modules associated with relatively independent sets of loci. Therefore, we recommend that future craniodental investigations adopt holistic combined data approaches, allowing for more robust inferences about underlying neutral genetic variation.
format Online
Article
Text
id pubmed-10338903
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Oxford University Press
record_format MEDLINE/PubMed
spelling pubmed-103389032023-07-14 Inferring human neutral genetic variation from craniodental phenotypes Rathmann, Hannes Perretti, Silvia Porcu, Valentina Hanihara, Tsunehiko Scott, G Richard Irish, Joel D Reyes-Centeno, Hugo Ghirotto, Silvia Harvati, Katerina PNAS Nexus Biological, Health, and Medical Sciences There is a growing consensus that global patterns of modern human cranial and dental variation are shaped largely by neutral evolutionary processes, suggesting that craniodental features can be used as reliable proxies for inferring population structure and history in bioarchaeological, forensic, and paleoanthropological contexts. However, there is disagreement on whether certain types of data preserve a neutral signature to a greater degree than others. Here, we address this unresolved question and systematically test the relative neutrality of four standard metric and nonmetric craniodental data types employing an extensive computational genotype–phenotype comparison across modern populations from around the world. Our computation draws on the largest existing data sets currently available, while accounting for geographically structured environmental variation, population sampling uncertainty, disparate numbers of phenotypic variables, and stochastic variation inherent to a neutral model of evolution. Our results reveal that the four data types differentially capture neutral genomic variation, with highest signals preserved in dental nonmetric and cranial metric data, followed by cranial nonmetric and dental metric data. Importantly, we demonstrate that combining all four data types together maximizes the neutral genetic signal compared with using them separately, even with a limited number of phenotypic variables. We hypothesize that this reflects a lower level of genetic integration through pleiotropy between, compared to within, the four data types, effectively forming four different modules associated with relatively independent sets of loci. Therefore, we recommend that future craniodental investigations adopt holistic combined data approaches, allowing for more robust inferences about underlying neutral genetic variation. Oxford University Press 2023-07-03 /pmc/articles/PMC10338903/ /pubmed/37457893 http://dx.doi.org/10.1093/pnasnexus/pgad217 Text en © The Author(s) 2023. Published by Oxford University Press on behalf of National Academy of Sciences. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Biological, Health, and Medical Sciences
Rathmann, Hannes
Perretti, Silvia
Porcu, Valentina
Hanihara, Tsunehiko
Scott, G Richard
Irish, Joel D
Reyes-Centeno, Hugo
Ghirotto, Silvia
Harvati, Katerina
Inferring human neutral genetic variation from craniodental phenotypes
title Inferring human neutral genetic variation from craniodental phenotypes
title_full Inferring human neutral genetic variation from craniodental phenotypes
title_fullStr Inferring human neutral genetic variation from craniodental phenotypes
title_full_unstemmed Inferring human neutral genetic variation from craniodental phenotypes
title_short Inferring human neutral genetic variation from craniodental phenotypes
title_sort inferring human neutral genetic variation from craniodental phenotypes
topic Biological, Health, and Medical Sciences
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10338903/
https://www.ncbi.nlm.nih.gov/pubmed/37457893
http://dx.doi.org/10.1093/pnasnexus/pgad217
work_keys_str_mv AT rathmannhannes inferringhumanneutralgeneticvariationfromcraniodentalphenotypes
AT perrettisilvia inferringhumanneutralgeneticvariationfromcraniodentalphenotypes
AT porcuvalentina inferringhumanneutralgeneticvariationfromcraniodentalphenotypes
AT haniharatsunehiko inferringhumanneutralgeneticvariationfromcraniodentalphenotypes
AT scottgrichard inferringhumanneutralgeneticvariationfromcraniodentalphenotypes
AT irishjoeld inferringhumanneutralgeneticvariationfromcraniodentalphenotypes
AT reyescentenohugo inferringhumanneutralgeneticvariationfromcraniodentalphenotypes
AT ghirottosilvia inferringhumanneutralgeneticvariationfromcraniodentalphenotypes
AT harvatikaterina inferringhumanneutralgeneticvariationfromcraniodentalphenotypes