Anne Marie Sohler-Snoddy, Stephanie Chan, Rebecca Weastell, Victoria Chen, Benjamin J. Wheeler, Deanna Beckett, Carolina Loch
{"title":"Serum Vitamin D Levels at Birth Are Not Associated With the Formation of Interglobular Dentin in Deciduous Teeth of Modern New Zealand Children","authors":"Anne Marie Sohler-Snoddy, Stephanie Chan, Rebecca Weastell, Victoria Chen, Benjamin J. Wheeler, Deanna Beckett, Carolina Loch","doi":"10.1002/ajpa.70370","DOIUrl":"https://doi.org/10.1002/ajpa.70370","url":null,"abstract":"<p>Interglobular dentin (IGD) has been used as a biomarker for vitamin D deficiency (VDD) in past populations. However, an evidence-based threshold for the levels of serum vitamin D associated with IGD occurrence has not been established. Here, we explore the association between perinatal serum vitamin D levels, presence of IGD, and biological sex in the deciduous teeth of modern children from Otago, New Zealand. Ground sections were created from the deciduous central or lateral mandibular incisors of 54 five to 6-year-old children (27 M, 27 F) with known perinatal blood vitamin D levels. Vitamin D levels at birth were classified as deficient (≤ 30 nmol/L), insufficient (> 30mn/L–< 50 nmol/L), or sufficient (≥ 50 nmol/L), and scanned slides were scored blind by two observers for IGD presence or absence. Thirty-seven individuals (68.5%) exhibited IGD. The distribution of IGD was similar across vitamin D levels considered deficient (35.1%), insufficient (32.4%), and sufficient (32.4%), with no significant association between IGD presence and vitamin D status (<i>p</i> = 0.97) or IGD presence and sex (<i>p</i> = 0.77). Our findings do not support an association between IGD formation in deciduous teeth and vitamin D levels at birth. The prevalence of IGD across the sample, particularly in secondary dentin, suggests IGD may represent a normal developmental feature. However, it is important to note that cord blood vitamin D levels do not reflect the individual's vitamin D status during the entire period of deciduous incisor formation. Further longitudinal clinical research is required to better understand the relationship between VDD and the formation of IGD.</p>","PeriodicalId":29759,"journal":{"name":"American Journal of Biological Anthropology","volume":"191 2","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajpa.70370","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149205643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kori Mecklenburg, Christine Pink, Heather J. H. Edgar, Tyler S. Gibb, Philip J. Kroth, Shamsi Daneshvari Berry
{"title":"The Ethical Use and Legality of Medical Examiner Data: Preliminary Lessons From the New Mexico Decedent Image Database","authors":"Kori Mecklenburg, Christine Pink, Heather J. H. Edgar, Tyler S. Gibb, Philip J. Kroth, Shamsi Daneshvari Berry","doi":"10.1002/ajpa.70369","DOIUrl":"10.1002/ajpa.70369","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Advances in postmortem imaging technologies are transforming medical examiner practice, enabling the creation of large-scale digital collections of decedent data that support research across medicine, public health, forensics, bioarchaeology, paleoanthropology, demographics, and anthropology in general. Drawing on the case of the New Mexico Decedent Image Database (NMDID), this paper explores the promises and risks of virtual medicolegal collections, introduces the perspectives of next-of-kin from a pilot focus group, and confronts the gaps in existing professional and legal frameworks. Finally, this work attempts to establish a foundation for developing standards for ethical stewardship of digital remains in the modern medicolegal landscape.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>One pilot focus group (<i>n</i> = 5) was conducted in Kalamazoo, Michigan in 2022. De-identified transcripts underwent a thematic analysis by anthropologists, ethicists, and biomedical informaticians. Themes were determined when the majority of the focus group agreed or shared the same or similar statement.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>From the small group of five participants, seven unique themes were identified relating to the use of decedent data, from the conversations with NOK: legitimate identifiability, closure, advocacy, legitimacy of research, timing of inquiry, notification, and agency.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Despite not obtaining saturation due to small group size, the thematic analysis still provides an important stakeholder perspective to help identify key aspects of the history and legal context of the unique ethical challenges posed by using medical examiner imaging-based collections for research purposes. Building on this foundation, we propose eight <i>preliminary</i> ethical guidelines that emphasize confidentiality, security, stewardship, and respect for next-of-kin.</p>\u0000 </section>\u0000 </div>","PeriodicalId":29759,"journal":{"name":"American Journal of Biological Anthropology","volume":"191 2","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149196667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Constancy of Sexual Dimorphism in the Infracranial Skeleton","authors":"Siam Knecht, Fréderic Santos, Sacha Kacki, Gabriele Krüger, Leandi Liebenberg, Lucie Biehler-Gomez, Cristina Cattaneo, Bérénice Chevalier, Alexandra Boucherie, Charlotte Boyer, Trenton Holliday, Aline Thomas, Sébastien Villotte","doi":"10.1002/ajpa.70363","DOIUrl":"10.1002/ajpa.70363","url":null,"abstract":"<p>Sexual dimorphism in the human infracranial skeleton has been extensively studied, yet its structural organization across skeletal regions remains incompletely characterized at a global scale. Using a geographically diverse sample of 3177 individuals of known sex (1219 females; 1958 males) drawn from five documented skeletal collections, this study quantifies sexual dimorphism across 12 long bones measurements of the humerus, radius, femur, and tibia. Dimorphism indices (DS%), two-way ANOVAs with partial <i>η</i><sup>2</sup>, Mahalanobis distances, Hedges' <i>g</i>, and <i>D</i>-index were computed to characterize the magnitude and the consistency of sex differences across groups. Results reveal a clear anatomical gradient in the expression of sexual dimorphism. Maximum bone lengths exhibit the lowest dimorphism (DS% = 8.5%–11.5%) with high stability and low within-sex variability. Articular breadths show the strongest association with sex (partial <i>η</i><sup>2</sup> > 56%) combined with relatively low intra-sexual dispersion. Diaphyseal diameters, particularly in the upper limb, display the highest DS% values but also the greatest coefficients of variation, reflecting greater biomechanical and methodological sensitivity. Sex × Group interactions are weak or non-significant across all variables, and rank concordance analyses confirm that this hierarchical pattern is consistent across populations (Kendall's <i>W</i> = 0.707–0.814, <i>p</i> < 0.001). These findings strongly support previous studies demonstrating the reliability of articular breadths for sex estimation in skeletal remains, and confirm that the metric signal of sexual dimorphism in long bones reflects a fundamental and broadly shared structural organization of the human appendicular skeleton.</p>","PeriodicalId":29759,"journal":{"name":"American Journal of Biological Anthropology","volume":"191 2","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mallika S. Sarma, Cara J. Ocobock, Shannon Rochelle, Sarah Martin, Shalender Bhasin, Clare Super, S. Finn Warrick, Lee T. Gettler
{"title":"Changes in Cortisol and Testosterone During Acclimatization and the Relationship to Energetic Outcomes","authors":"Mallika S. Sarma, Cara J. Ocobock, Shannon Rochelle, Sarah Martin, Shalender Bhasin, Clare Super, S. Finn Warrick, Lee T. Gettler","doi":"10.1002/ajpa.70360","DOIUrl":"https://doi.org/10.1002/ajpa.70360","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>When in energetically demanding environments (e.g., high altitude, backcountry expeditions), humans acclimatize to compounded intensive stressors. Acclimatization is possible in part by using the dynamically responsive neuroendocrine system, with changes to hormones like cortisol (CORT) and testosterone (T), which both play important metabolic roles. We sought to examine how these hormones change during acclimatization and what their relationship was to energetic outcomes (i.e., physical activity intensity and average energy expenditure (AEE)).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>Data were collected from 70 healthy individuals (age range: 18–53 years; female = 39) throughout a 3-month long expedition in the American Rockies. Repeated measures of pre-activity salivary baseline and acute change (i.e., reactivity) samples of CORT and T were taken throughout the 3-month period. Physical activity intensity and energy expenditure were also assessed in a subset of participants using the wGT3X-BT Actigraph monitor.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Over the 3-month period, we found that time on the course moderated the relationship between CORT reactivity and physical activity intensity (%MVPA) and AEE. Compared to the start of the expedition, female baseline T was significantly higher in the middle and end, and male baseline T was significantly higher at the end. Additionally, female T acutely declined significantly more at the end of the expedition compared to the beginning. We also found that time on course and sex moderated the relationship between T reactivity and activity intensity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These findings suggest a dynamic relationship between neuroendocrine and energetic outcomes during acclimatization, which may further differ between sexes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":29759,"journal":{"name":"American Journal of Biological Anthropology","volume":"191 2","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajpa.70360","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149146073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ammie K. Kalan, Mimi Arandjelovic, Hjalmar Kuehl, Skye Bartel-Ens, Amy Christensen, Julia Whelan, Anthony Agbor, Paula Dieguez, Juan Lapuente, Amelia C. Meier, Fotios Alexandros Karakostis
{"title":"Sticks and Stones: Hand Preference and Grip in Wild Chimpanzee Tool-Use","authors":"Ammie K. Kalan, Mimi Arandjelovic, Hjalmar Kuehl, Skye Bartel-Ens, Amy Christensen, Julia Whelan, Anthony Agbor, Paula Dieguez, Juan Lapuente, Amelia C. Meier, Fotios Alexandros Karakostis","doi":"10.1002/ajpa.70364","DOIUrl":"https://doi.org/10.1002/ajpa.70364","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Humans exhibit a near-universal right-handed bias, linked to hemispheric brain lateralization, yet its evolutionary origins remain unclear. Wild chimpanzees, one of our closest living relatives, show diverse tool-use behaviors and substantial variability, providing an appropriate context to investigate the emergence and functional significance of handedness in ecologically relevant settings. This study aimed to assess chimpanzee handedness and grip at both the individual and behavioral levels to determine whether specific tool-use tasks elicit consistent preferences.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We investigated hand preferences and grasping patterns in wild chimpanzees for three tool-use behaviors observed in three different communities: accumulative stone throwing, algae fishing, and nut cracking. Our dataset consisted of camera-trap videos of unhabituated wild chimpanzees with individuals identified across videos.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We found 20/21 individual chimpanzees were consistent in their hand preference during primary tool-use actions: fishing, hammering, or throwing. Insufficient observations of a further 16 chimpanzees prevented assessment of their hand preference. We found no evidence for behavior- or population-level biases in hand preference. Grips were only possible to code for algae fishing, where we found pronounced inter-individual variability in grasping, with notable trends between left- and right-handed chimpanzees. Also, right-handed individuals appeared to fish for longer durations, although the implications for tool-use performance remain unclear.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>This study highlights challenges and complexity associated with plant-based precision-grasping tool-use behaviors like algae fishing. During the early stages of hominin evolution, the efficient execution of such manual behaviors likely benefited from key evolutionary adaptations favoring improved dexterity, motor skills, and enhanced brain-hand coordination.</p>\u0000 </section>\u0000 </div>","PeriodicalId":29759,"journal":{"name":"American Journal of Biological Anthropology","volume":"191 2","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajpa.70364","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149146070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Faye McGechie, Lucas K. Delezene, Kevin M. Middleton, Mariam C. Nargolwalla, David R. Begun, Halszka Glowacka
{"title":"Metric Variation in Pliopithecoid Mandibular Molars From the Late Miocene Fossil Locality of Rudabánya, Hungary","authors":"Faye McGechie, Lucas K. Delezene, Kevin M. Middleton, Mariam C. Nargolwalla, David R. Begun, Halszka Glowacka","doi":"10.1002/ajpa.70355","DOIUrl":"10.1002/ajpa.70355","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Rudabánya II (RII) is a 10-million-year-old fossil locality in Hungary that preserves a rich assemblage of vertebrate fossils, including specimens attributed to the pliopithecoid <i>Anapithecus hernyaki</i>. The RII dental remains of this stem catarrhine vary in mandibular molar morphology, particularly in the length and degree of tapering of the M<sub>3</sub>. The goal of this study is to quantify metric variation in the RII fossil pliopithecoid mandibular dental sample and determine if it exceeds variation in extant anthropoid taxa.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>Using a bootstrapping approach, we compared variation in RII pliopithecoid mandibular molar shape ratios and relative size to a taxonomically broad sample of extant anthropoids. We also used 2D geometric morphometrics to compare the occlusal morphology of the RII pliopithecoid sample with other fossil and extant catarrhines and explored the relationship between mandibular molar shape in the more sexually dimorphic taxa.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In many cases, the RII pliopithecoid mandibular molars are more variable in shape than the comparative extant samples when comparing ratios of linear measures and in geometric morphometric analysis. In shape space, the RII pliopithecoid mandibular molars are distinct from other pliopithecoids. Mandibular molar size is not related to shape.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>We address two potential sources of elevated variation in the RII pliopithecoid sample: (1) a high degree of sexual dimorphism, which exceeds that of extant anthropoid species, and (2) the presence of two pliopithecoid species in the RII fossil assemblage. Sexual dimorphism is not likely to be the cause of elevated variation in this sample.</p>\u0000 </section>\u0000 </div>","PeriodicalId":29759,"journal":{"name":"American Journal of Biological Anthropology","volume":"191 2","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149115786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Of Monsters and Monkeys: Queering the Study of Genetic Chimerism in Primates","authors":"Rachel Voyt","doi":"10.1002/ajpa.70362","DOIUrl":"10.1002/ajpa.70362","url":null,"abstract":"<p>Scientific research is a political enterprise, and is therefore susceptible to cultural biases. With its central role in understanding humans as a species, primatology is particularly vulnerable to this dynamic, requiring researchers to carefully assess both the influences shaping their work and the implications of their results. Here, I engage in this practice by critically examining the study of chimerism in callitrichid primates, a prominent model taxon in studies of human health and evolution. Chimerism, which refers to cells derived from two or more zygotic lineages within a single organism, is a defining feature of callitrichid biology. Chimerism also challenges the boundaries by which many biological categories are defined. Using the lens of queer monster theory, I investigate the relationship between the study of callitrichid chimerism and the conceptualization of callitrichid and human bodies, with particular attention to the role of “queer” sex and reproduction. I first discuss the origins of chimerism within biological discourse, showing how the biological chimera inherited “unnatural” connotations that continue to shape scientific research. I then examine how similar monster-making practices surface in studies of callitrichids, arguing that patterns of omission and claims of exceptionalism serve to manage chimerism as a categorical threat. Finally, I explore the promises that callitrichid chimeras present as monstrous informants. I show that callitrichid chimeras can be used not only to expose the cultural boundary-work structuring sex and reproduction, but to invite research practices that treat categorical deviation not as abnormal, but as evidence that these categories must be changed.</p>","PeriodicalId":29759,"journal":{"name":"American Journal of Biological Anthropology","volume":"191 2","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13639375/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149115722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yeganeh Sekhavati, Thomas Cody Prang, David Strait
{"title":"Environmental Context of Hominin Foot Evolution","authors":"Yeganeh Sekhavati, Thomas Cody Prang, David Strait","doi":"10.1002/ajpa.70340","DOIUrl":"10.1002/ajpa.70340","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>This study investigates the environmental contexts that influenced the evolution of hominin foot morphology, focusing on when, where, and under what conditions key synapomorphies evolved. We test whether shifts in ecological conditions are associated with changes in locomotor function.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We used phylogenetic and biogeographical analyses with paleoenvironmental data to evaluate the relationships between foot morphology and environmental context. Phylogenetic trees were inferred using the fossilized birth-death model and time-calibrated. Multiple topologies were used to explore alternative evolutionary hypotheses. Historical biogeography was reconstructed using BioGeoBEARS. Finally, environmental conditions at key ancestral nodes were inferred by linking reconstructed geographical regions with paleoenvironmental proxies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The results suggest that the origin of bipedalism likely occurred during intervals of increasing aridity. Later in hominin evolution, wetter environments became more important, and most derived traits evolved during wet or mixed environments. The last common ancestors (LCA) of most <i>Australopithecus</i> and <i>Paranthropus</i> species likely lived in wetter environments, and the LCA of Homo lived in both dry and wet environments. Across all trees, an average of 5.3 synapomorphies evolved in wet environments, 5.0 in dry and wet environments, and 4.3 in mixed environments. The results suggest that a considerable number of foot synapomorphies evolved during periods of ecological transition.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Ecological flexibility seems to be significant in hominin foot evolution, enabling synapomorphies to persist as hominins faced different environmental conditions. These findings illustrate how environments influenced the evolution of key adaptations in hominins.</p>\u0000 </section>\u0000 </div>","PeriodicalId":29759,"journal":{"name":"American Journal of Biological Anthropology","volume":"191 2","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13633444/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149115773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Angel Criollo-Rayo, Catalina Rubio-Vargas, Carlos Puentes, Daniel Molina-Campos, Mabel Elena Bohórquez, Angel Carracedo, Ana Estrada-Flórez, Danna Díaz-Carmona, Fabian Castro-Valencia, Luis Carvajal-Carmona, María Magdalena Echeverry
{"title":"Runs of Homozygosity and Signatures of Positive Selection in Colombian Native American Populations: Genetic Architecture and Demographic History","authors":"Angel Criollo-Rayo, Catalina Rubio-Vargas, Carlos Puentes, Daniel Molina-Campos, Mabel Elena Bohórquez, Angel Carracedo, Ana Estrada-Flórez, Danna Díaz-Carmona, Fabian Castro-Valencia, Luis Carvajal-Carmona, María Magdalena Echeverry","doi":"10.1002/ajpa.70361","DOIUrl":"https://doi.org/10.1002/ajpa.70361","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Runs of homozygosity (ROHs) are suitable for studying population demographic history. This study analyzed whole-genome patterns of homozygosity and natural selection in Colombian indigenous populations to identify their role in population structure and demographic history.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>Individuals from four indigenous groups (Nasa, Pijao, Wayuu, and Emberá) were genotyped using an array of 758,740 SNPs. ROH distribution across the genome and signatures of selection were characterized and compared with reference populations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Colombian Native Americans showed a population structure similar to that of Central and South American indigenous groups, with higher genome-wide homozygosity (mean = 179.40 Mb, median = 168.77 Mb, SD = 98.08 Mb), and the Emberá group showed the highest mean ROH size (2.46 Mb) and <i>F</i><sub>ROH</sub> (0.092). Admixture was negatively correlated with ROH content and length. We described 16 ROH islands and selection signatures, including <i>EDAR</i>, <i>F13A1</i>, <i>SASH1</i>, <i>IYD</i>, and <i>FADS1</i>, with the strongest ROH–selection co-occurrence at 2q24.2. These genomic regions showed larger haplotype blocks and reduced diversity compared with Europeans and Africans.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Frequent ROH islands in Colombian indigenous groups revealed homozygous chromosomal regions enriched for genes previously reported to be associated with cancer and metabolic and cardiovascular conditions. These islands harbor highly differentiated alleles in Native Americans, including signals of natural selection. However, the presence of these genes within ROH regions does not imply a direct association with disease in the populations analyzed here. Rather, these findings provide a foundational genomic resource for future phenotype-inclusive studies of complex disease architecture in Native American populations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":29759,"journal":{"name":"American Journal of Biological Anthropology","volume":"191 2","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149068567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}