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Background: Genome-wide association studies (GWASs) have identified genes influencing skin ageing and mole count in Europeans, but little is known about the relevance of these (or other genes) in non-Europeans. - Objectives: To conduct a GWAS for facial skin ageing and mole count in adults

We report a genome-wide association study for facial features in > 6,000 Latin Americans. We placed 106 landmarks on 2D frontal photographs using the cloud service platform Face++. After Procrustes superposition, genome-wide association testing was performed for 301 inter-landmark distances. We detected nominally significant association (P-value − 8) for 42 genome regions. Of these, 9 regions have been previously reported in GWAS of facial features. In follow-up analyses, we replicated 26 of the 33 novel regions (in East Asians or Europeans). The replicated regions include 1q32.3, 3q21.1, 8p11.21, 10p11.1, and 22q12.1, all comprising strong candidate genes involved in craniofacial development. Furthermore, the 1q32.3 region shows evidence of introgression from archaic humans. These results provide novel biological insights into facial variation and establish that automatic landmarking of standard 2D photographs is a simple and informative approach for the genetic analysis of facial variation, suitable for the rapid analysis of large population samples.

Throughout human evolutionary history, large-scale migrations have led to intermixing (i.e., admixture) between previously separated human groups. Although classical and recent work have shown that studying admixture can yield novel historical insights, the extent to which this process contributed to adaptation remains underexplored. Here, we introduce a novel statistical model, specific to admixed populations, that identifies loci under selection while determining whether the selection likely occurred post-admixture or prior to admixture in one of the ancestral source populations. Through extensive simulations, we show that this method is able to detect selection, even in recently formed admixed populations, and to accurately differentiate between selection occurring in the ancestral or admixed population. We apply this method to genome-wide SNP data of ∼4,000 individuals in five admixed Latin American cohorts from Brazil, Chile, Colombia, Mexico, and Peru. Our approach replicates previous reports of selection in the human leukocyte antigen region that are consistent with selection post-admixture. We also report novel signals of selection in genomic regions spanning 47 genes, reinforcing many of these signals with an alternative, commonly used local-ancestry-inference approach. These signals include several genes involved in immunity, which may reflect responses to endemic pathogens of the Americas and to the challenge of infectious disease brought by European contact. In addition, some of the strongest signals inferred to be under selection in the Native American ancestral groups of modern Latin Americans overlap with genes implicated in energy metabolism phenotypes, plausibly reflecting adaptations to novel dietary sources available in the Americas.

After the European colonization of the Americas, there was a dramatic population collapse of the Indigenous inhabitants caused in part by the introduction of new pathogens. Although there is much speculation on the etiology of the Colonial epidemics, direct evidence for the presence of specific viruses during the Colonial era is lacking. To uncover the diversity of viral pathogens during this period, we designed an enrichment assay targeting ancient DNA (aDNA) from viruses of clinical importance and applied it to DNA extracts from individuals found in a Colonial hospital and a Colonial chapel (16th–18th century) where records suggest that victims of epidemics were buried during important outbreaks in Mexico City. This allowed us to reconstruct three ancient human parvovirus B19 genomes and one ancient human hepatitis B virus genome from distinct individuals. The viral genomes are similar to African strains, consistent with the inferred morphological and genetic African ancestry of the hosts as well as with the isotopic analysis of the human remains, suggesting an origin on the African continent. This study provides direct molecular evidence of ancient viruses being transported to the Americas during the transatlantic slave trade and their subsequent introduction to New Spain. Altogether, our observations enrich the discussion about the etiology of infectious diseases during the Colonial period in Mexico., eLife digest The arrival of European colonists to the Americas, beginning in the 15th century, contributed to the spread of new viruses amongst Indigenous people. This led to massive outbreaks of disease, and millions of deaths that caused an important Native population to collapse. The exact viruses that caused these outbreaks are unknown, but smallpox, measles, and mumps are all suspected. During these times, traders and colonists forcibly enslaved and displaced millions of people mainly from the West Coast of Africa to the Americas. The cruel, unsanitary, and overcrowded conditions on ships transporting these people across the Atlantic contributed to the spread of infectious diseases onboard. Once on land, infectious diseases spread quickly, partly due to the poor conditions that enslaved and ndigenous people were made to endure. Native people were also immunologically naïve to the newly introduced pathogens, making them susceptible to severe or fatal outcomes. The new field of paleovirology may help scientists identify the viruses that were circulating in the first years of colonization and trace how viruses arrived in the Americas. Using next-generation DNA sequencing and other cutting-edge techniques, Guzmán-Solís et al. extracted and enriched viral DNA from skeletal remains dating back to the 16th century. These remains were found in mass graves that were used to bury epidemic victims at a colonial hospital and chapel in what is now Mexico City. The experiments identified two viruses, human parvovirus B19 and a human hepatitis B virus. These viral genomes were recovered from human remains of first-generation African people in Mexico, as well as an individual who was an Indigenous person. Although the genetic material of these ancient viruses resembled pathogens that originated in Africa, the study did not determine if the victims died from these viruses or another cause. On the other hand, the results indicate that viruses frequently found in modern Africa were circulating in the Americas during the slave trade period of Mexico. Finally, the results provide evidence that colonists who forcibly brought African people to the Americas participated in the introduction of viruses to Mexico. This constant influx of viruses from the old world, led to dramatic declines in the populations of Indigenous people in the Americas.

Resumen Introduccion El objetivo de este estudio fue la obtencion de funciones discriminantes para estimacion del sexo a partir de mediciones directas en metacarpos y metatarsos para contribuir en la identificacion de individuos desconocidos. Material y metodos Se analizaron metricamente los metacarpos y metatarsos de 112 esqueletos adultos contemporaneos (49 femeninos y 63 masculinos) de la Coleccion-UNAM del Laboratorio de Antropologia Fisica, Facultad de Medicina, UNAM. Empleando un vernier digital se tomaron 5 medidas (longitud maxima y 4 anchuras) en cada uno de los huesos del metacarpo y del metatarso. Resultados Se desarrollaron 14 funciones discriminantes para los metacarpos, con porcentajes del 79,5% a 85,3% de asignacion sexual correcta, siendo el segundo metacarpo el hueso mas dimorfico de la muestra. Para el caso de los metatarsos se obtuvieron 5 funciones que van del 77,8% al 83,2% de certidumbre, siendo el primer metatarso el hueso mas dimorfico. De manera general, las anchuras en ambas epifisis fueron las medidas mas dimorficas. Conclusiones Las funciones discriminantes de metacarpos y metatarsos obtenidas presentan, de manera general, porcentajes por encima del 80%, lo cual concuerda con lo reportado para otras poblaciones; por lo tanto, pueden ser utilizadas en contextos forenses para la identificacion humana, en restos completos o fragmentados, en el caso de no contar con otro elemento oseo, como la pelvis.

Introduction The aim of this study was to obtain discriminant functions for estimating gender from direct measurements of the metacarpal and metatarsal bones for identification of unknown individuals. Material and methods An analysis was performed on metacarpal and metatarsals bones of 112 adult contemporary skeletons (49 females and 63 males). The sample belongs to the Autonomous University of Mexico (UNAM) Collection from the Physical Anthropology Laboratory, UNAM Faculty of Medicine. Five measurements were taken (maximum length and four widths) of each metacarpal and metatarsal bones employing a digital calliper. Results Fourteen discriminant functions were developed for metacarpals with percentages from 79.5% to 85.3% of correct gender classification. The second metacarpal was the most dimorphic of the sample. For metatarsals, five discriminant functions were obtained, ranging from 77.8% to 83.2% of certainty. In this case the first metatarsal was the most dimorphic. In general terms, the widths of both epiphyses were the most dimorphic measurements. Conclusions The discriminant functions of metacarpal and metatarsal bones obtained are generally above 80%, which is similar to reports from other populations. Therefore, it can be used in forensic contexts for human identification with complete or fragmented remains, in the cases where no other bone element is available, such as the pelvis.

Here we evaluate the accuracy of prediction for eye, hair and skin pigmentation in a dataset of > 6500 individuals from Mexico, Colombia, Peru, Chile and Brazil (including genome-wide SNP data and quantitative/categorical pigmentation phenotypes - the CANDELA dataset CAN). We evaluated accuracy in relation to different analytical methods and various phenotypic predictors. As expected from statistical principles, we observe that quantitative traits are more sensitive to changes in the prediction models than categorical traits. We find that Random Forest or Linear Regression are generally the best performing methods. We also compare the prediction accuracy of SNP sets defined in the CAN dataset (including 56, 101 and 120 SNPs for eye, hair and skin colour prediction, respectively) to the well-established HIrisPlex-S SNP set (including 6, 22 and 36 SNPs for eye, hair and skin colour prediction respectively). When training prediction models on the CAN data, we observe remarkably similar performances for HIrisPlex-S and the larger CAN SNP sets for the prediction of hair (categorical) and eye (both categorical and quantitative), while the CAN sets outperform HIrisPlex-S for quantitative, but not for categorical skin pigmentation prediction. The performance of HIrisPlex-S, when models are trained in a world-wide sample (although consisting of 80% Europeans, https://hirisplex.erasmusmc.nl), is lower relative to training in the CAN data (particularly for hair and skin colour). Altogether, our observations are consistent with common variation of eye and hair colour having a relatively simple genetic architecture, which is well captured by HIrisPlex-S, even in admixed Latin Americans (with partial European ancestry). By contrast, since skin pigmentation is a more polygenic trait, accuracy is more sensitive to prediction SNP set size, although here this effect was only apparent for a quantitative measure of skin pigmentation. Our results support the use of HIrisPlex-S in the prediction of categorical pigmentation traits for forensic purposes in Latin America, while illustrating the impact of training datasets on its accuracy. Fil: Palmal, Sagnik. Centre National de la Recherche Scientifique; Francia. Aix-Marseille Université; Francia Fil: Kaustubh Adhikari. The Open University; Reino Unido. University College London; Estados Unidos Fil: Mendoza Revilla, Javier. Universidad Peruana Cayetano Heredia; Perú. Institut Pasteur de Paris.; Francia Fil: Fuentes Guajardo, Macarena. Universidad de Tarapacá; Chile Fil: Silva de Cerqueira, Caio Cesar. Scientific Police of São Paulo State; Brasil Fil: Bonfante, Betty. Aix-Marseille Université; Francia. Centre National de la Recherche Scientifique; Francia Fil: Chacón Duque, Juan Camilo. Natural History Museum; Reino Unido Fil: Sohail, Anood. Kinnaird College for Women. Department of Biotechnology; Pakistán Fil: Hurtadeo, Malena. Universidad Peruana Cayetano Heredia; Perú Fil: Villegas, Valeria. Universidad Peruana Cayetano Heredia; Perú Fil: Granja, Vanessa. Universidad Peruana Cayetano Heredia; Perú Fil: Jaramillo, Claudia. Kinnaird College for Women. Department of Biotechnology; Pakistán. Universidad de Antioquia; Colombia Fil: Arias, Williams. Universidad de Antioquia; Colombia Fil: Barquera Lozano, Rodrigo. Instituto Nacional de Antropología e Historia; México. Max Planck Institute for the Science of Human History. Department of Archaeogenetics; Alemania Fil: Everardo Martínez, Paola. Instituto Nacional de Antropología e Historia; México Fil: Gómez Valdés, Jorge. Instituto Nacional de Antropología e Historia; México Fil: Villamil Ramirez, Hugo. Universidad Nacional Autónoma de México; México Fil: Hünemeier, Tábita. Universidade de Sao Paulo; Brasil Fil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina. Universidade Federal do Rio Grande do Sul; Brasil Fil: Parolin, María Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto de Diversidad y Evolución Austral; Argentina Fil: Gonzalez, Rolando Jose. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Schüler-Faccini, Lavinia. Universidade Federal do Rio Grande do Sul, Porto Alegre; Brasil Fil: Bortolini, María Cátira. Universidade Federal do Rio Grande do Sul; Brasil Fil: Acuña Alonzo, Victor. Instituto Nacional de Antropología e Historia; México. Universidade Federal do Rio Grande do Sul; Brasil Fil: Canizales Quinteros, Samuel. Universidad Nacional Autónoma de México; México Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú Fil: Poletti, Giovanni. Universidad Peruana Cayetano Heredia; Perú Fil: Bedoya, Gabriel. Universidad de Antioquia; Colombia Fil: Rothhammer, Francisco. Universidad de Tarapacá; Chile. Universidad de Chile; Chile Fil: Balding, David. University College London; Reino Unido. University of Melbourne; Australia Fil: Faux, Pierre. Aix-Marseille Université; Francia. Centre National de la Recherche Scientifique; Francia Fil: Ruiz Linares, Andrés. Aix-Marseille Université; Francia. Centre National de la Recherche Scientifique; Francia. University College London; Reino Unido. Fudan University; República de China

We carried out a genome-wide association study in Latin Americans and identified novel face morphology loci.., To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development. The associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype common in Native Americans affecting particularly lip thickness. Among the nine previously unidentified face morphology loci we identified is the VPS13B gene region, and we show that variants in this region also affect midfacial morphology in mice.

We report an evaluation of prediction accuracy for eye, hair and skin pigmentation based on genomic and phenotypic data for over 6,500 admixed Latin Americans (the CANDELA dataset). We examined the impact on prediction accuracy of three main factors: (i) The methods of prediction, including classical statistical methods and machine learning approaches, (ii) The inclusion of non-genetic predictors, continental genetic ancestry and pigmentation SNPs in the prediction models, and (iii) Compared two sets of pigmentation SNPs: the commonly-used HIrisPlex-S set (developed in Europeans) and novel SNP sets we defined here based on genome-wide association results in the CANDELA sample. We find that Random Forest or regression are globally the best performing methods. Although continental genetic ancestry has substantial power for prediction of pigmentation in Latin Americans, the inclusion of pigmentation SNPs increases prediction accuracy considerably, particularly for skin color. For hair and eye color, HIrisPlex-S has a similar performance to the CANDELA-specific prediction SNP sets. However, for skin pigmentation the performance of HIrisPlex-S is markedly lower than the SNP set defined here, including predictions in an independent dataset of Native American data. These results reflect the relatively high variation in hair and eye color among Europeans for whom HIrisPlex-S was developed, whereas their variation in skin pigmentation is comparatively lower. Furthermore, we show that the dataset used in the training of prediction models strongly impacts on the portability of these models across Europeans and Native Americans.

The ‘red complex’ is an aggregate of three oral bacteria (Tannerella forsythia, Porphyromonas gingivalis and Treponema denticola) responsible for severe clinical manifestation of periodontal disease. Here, we report the first direct evidence of ancient T. forsythia DNA in dentin and dental calculus samples from archaeological skeletal remains that span from the Pre-Hispanic to the Colonial period in Mexico. We recovered twelve partial ancient T. forsythia genomes and observed a distinct phylogenetic placement of samples, suggesting that the strains present in Pre-Hispanic individuals likely arrived with the first human migrations to the Americas and that new strains were introduced with the arrival of European and African populations in the sixteenth century. We also identified instances of the differential presence of genes between periods in the T. forsythia ancient genomes, with certain genes present in Pre-Hispanic individuals and absent in Colonial individuals, and vice versa. This study highlights the potential for studying ancient T. forsythia genomes to unveil past social interactions through analysis of disease transmission. Our results illustrate the long-standing relationship between this oral pathogen and its human host, while also unveiling key evidence to understand its evolutionary history in Pre-Hispanic and Colonial Mexico. This article is part of the theme issue ‘Insights into health and disease from ancient biomolecules'.

After the European colonization of the Americas there was a dramatic population collapse of the Indigenous inhabitants caused in part by the introduction of new pathogens. Although there is much speculation on the etiology of the Colonial epidemics, direct evidence for the presence of specific viruses during the Colonial era is lacking. To uncover the diversity of viral pathogens during this period, we designed an enrichment assay targeting ancient DNA (aDNA) from viruses of clinical importance and applied it on DNA extracts from individuals found in a Colonial hospital and a Colonial chapel (16thc. – 18thc.) where records suggest victims of epidemics were buried during important outbreaks in Mexico City. This allowed us to reconstruct three ancient human parvovirus B19 genomes, and one ancient human hepatitis B virus genome from distinct individuals. The viral genomes are similar to African strains, consistent with the inferred morphological and genetic African ancestry of the hosts as well as with the isotopic analysis of the human remains, suggesting an origin on the African continent. This study provides direct molecular evidence of ancient viruses being transported to the Americas during the transatlantic slave trade and their subsequent introduction to New Spain. Altogether, our observations enrich the discussion about the etiology of infectious diseases during the Colonial period in Mexico.

Stature estimation is an important step to create a biological profile for human identification of unknown individuals in forensic anthropological practice, and it is well known that the long bone length is highly correlated with this feature. The purpose of the present study is to develop formulae for height estimation, based on simple linear regression model for humerus, femur and tibia in Mexican contemporary population. Stature was taken in 56 males and 30 female corpses as well as maximum length of three long bones of the limbs after autopsy following the Menendez et al. (2014) criteria, at the Facultad de Medicina (School of Medicine) of the Universidad Nacional Autonoma de Mexico. Based on this data, equations for each sex and for the three long bones were developed, obtaining a highly significant (p < .001) linear regression models with correlation coefficients of r = 0.820 for female femur and r = 0.855 for male tibia. In this manner, the new formulae provide better and reliable results of stature estimation for the contemporary population of Mexico.

Resumen Introduccion El presente trabajo tuvo como objetivos: conocer el grado de dimorfismo sexual entre una poblacion de la Ciudad de Mexico y otra de Hidalgo, Mexico; y el desarrollo de funciones discriminantes para la estimacion de sexo por medio de la mandibula, para identificacion humana. Material y metodos Se analizaron morfometricamente mandibulas de dos muestras, una procedente de la Ciudad de Mexico (MEX) (Coleccion-UNAM) y otra de Santa Maria Xigui, Alfajayucan, Hidalgo, Mexico (XIG). La muestra MEX consistio en 108 mandibulas (75 masculinos y 33 femeninos) y en la muestra XIG se utilizaron 56 mandibulas (33 femeninos y 30 masculinos), con una edad media entre 49,2 y 55,1 anos. Se tomaron 18 medidas mandibulares y se desarrollaron cuatro funciones discriminantes para estimar el sexo con cada muestra. Resultados Se observo el mismo patron de diferenciacion en ambas poblaciones, no obstante se presentaron diferencias entre estas, ya que se demostro que existe mayor grado de diferencias sexuales en XIG. Las funciones discriminantes desarrolladas para ambas poblaciones, alcanzaron entre el 76,4 y 84% de clasificacion sexual correcta. Conclusiones La muestra XIG presento mayor dimorfismo sexual que la muestra MEX, con mandibulas mas alargadas y mentones altos y alargados. Las funciones discriminantes del presente trabajo presentan porcentajes de clasificacion mayores a los de las demas propuestas existentes. Y al ser desarrolladas a partir de poblacion contemporanea, pueden ser utilizadas en contextos forenses para identificacion humana con restos completos o fragmentados y/o incompletos.

Introduction The aims of the present study were to determine the level of sexual dimorphism among two populations, one from Mexico City and the other from Hidalgo, Mexico, as well as the development of discriminant functions for gender assessment using the mandible, for human identification. Materials and methods Two samples of mandibles were analysed morphometrically, one from Mexico City (Coleccion-UNAM) (MEX), and the other from Santa Maria Xigui, Alfajayucan, Hidalgo, Mexico (XIG). The sample MEX consisted of 108 mandibles (75 male and 33 female), and XIG sample with 56 mandibles (33 female and 30 male), with a mean age between 49.2 and 55.1 years old. Eighteen measurements were taken to create four discriminant functions for gender estimation for each sample. Results The differentiation pattern among populations (samples) was the same. Nevertheless, there were differences between them, with a higher degree of sexual difference in XIG. The discriminant functions, developed for both populations, achieved a correct classification in between 76.4 and 84%, respectively. Conclusion The XIG sample showed greater sexual dimorphism than the MEX sample, with longer mandibles and higher and elongated chins. The discriminant functions generated in this study, present higher classification percentages than the other existing proposals. Furthermore, being developed from the contemporary population, they can be used in forensic contexts for human identification, with complete or fragmented/incomplete remains.

Objectives The aim of this study was to test the accuracy of the Klales et al. (2012) equation for sex estimation in contemporary Mexican population. Materials and Methods Our investigation was carried out on a sample of 203 left innominates of identified adult skeletons from the UNAM-Collection and the Santa Maria Xigui Cemetery, in Central Mexico. The Klales' original equation produces a sex bias in sex estimation against males (86–92% accuracy versus 100% accuracy in females). Based on these results, the Klales et al. (2012) method was recalibrated for a new cutt-of-point for sex estimation in contemporary Mexican populations. Results and Discussion The results show cross-validated classification accuracy rates as high as 100% after recalibrating the original logistic regression equation. Recalibration improved classification accuracy and eliminated sex bias. This new formula will improve sex estimation for Mexican contemporary populations.

The ‘red complex’ is an aggregate of three oral bacteria ( Tannerella forsythia , Porphyromonas gingivalis and Treponema denticola ) responsible for severe clinical manifestation of periodontal disease. Here, we report the first direct evidence of ancient T. forsythia DNA in dentin and dental calculus samples from archaeological skeletal remains that span from the Pre-Hispanic to the Colonial period in Mexico. We recovered twelve partial ancient T. forsythia genomes and observed a distinct phylogenetic placement of samples, suggesting that the strains present in Pre-Hispanic individuals likely arrived with the first human migrations to the Americas and that new strains were introduced with the arrival of European and African populations in the sixteenth century. We also identified instances of the differential presence of genes between periods in the T. forsythia ancient genomes, with certain genes present in Pre-Hispanic individuals and absent in Colonial individuals, and vice versa . This study highlights the potential for studying ancient T. forsythia genomes to unveil past social interactions through analysis of disease transmission. Our results illustrate the long-standing relationship between this oral pathogen and its human host, while also unveiling key evidence to understand its evolutionary history in Pre-Hispanic and Colonial Mexico. This article is part of the theme issue ‘Insights into health and disease from ancient biomolecules'.

Objective Here we evaluate morphological integration patterns and magnitudes in different skull regions to detect if shifts in morphological integration are correlated to the appearance of more processed (softer) diets. Methods To do so, three transitional populations were analyzed, including samples from groups that inhabited the same geographical region and for which the evidence shows that major changes occurred in their subsistence mode. Ninety three-dimensional landmarks were digitized on 357 skulls and used as the raw data to develop geometric morphometric analyses. The landmark coordinates were divided into several different regions of biomechanical interest, following a three-level hierarchically nested scheme: the whole skull, further subdivided into neurocranium (divided into the vault and basicranium), the facial (divided into the lower and upper facial), and the masticatory apparatus (divided into alveolar, temporal, and temporo-mandibular joint). Results Our results indicate that the morphological integration and variability patterns significantly vary across skull regions but are maintained across the transitions. The alveolar border and the lower facial are the regions manifesting greater value of morphological integration and variability, while the upper facial, the temporo-mandibular joint, and the basicranium are highly integrated and poorly variable. Conclusions The transition to softer diets increased morphological variation across cranial regions that are more exposed to masticatory strains effects. Am. J. Hum. Biol., 2015. © 2015 Wiley Periodicals, Inc.

En este trabajo se evalúa la relación entre la asimetría fluctuante facial (AFF) y los tratamientos hormonales, cirugías maxilofaciales, ortodoncia, traumatismos y malformaciones. En el marco del proyecto CANDELA, se tomaron cinco fotografías faciales de 3162 voluntarios entre los 18 y 85 años. Por fotogrametría se colocaron 34 landmarks o puntos en 3D y mediante el método Procrustes ANOVA se obtuvieron valores individuales de asimetría fluctuante facial. Se realizó una prueba de ANOVA de una vía y la prueba de Welch y Levene para conocer las diferencias entre media y varianza de los valores de asimetría facial y las variables respuesta. También, se caracterizó la variación morfológica del componente asimétrico de la forma facial mediante técnicas multivariadas sobre los grupos que resultaran diferentes significativamente. Las mujeres que reportaron haber recibido algún tipo de tratamiento hormonal mostraron mayores valores de asimetría fluctuante facial respecto al grupo sin tratamiento. Esta asociación se mantuvo una vez removido el efecto de la ancestría genética y sin interactuar con el resto de variables incluidas en el análisis. Los cambios morfológicos asociados a este factor se concentran en el mentón, maxilar labio inferior, región perifrontal, región nasal y orejas. Algunos trabajos anteriores dieron cuenta de la posible relación entre la asimetría facial y los niveles de hormonas, pero no hay estudios que sustenten la relación causal o directa entre la asociación aquí planteada. El presente trabajo es una evidencia más de la asociación entre el consumo de hormonas y modificaciones de caracteres faciales en para poblaciones urbanas mestizas latinoamericanas.

Facial asymmetries are usually measured and interpreted as proxies to developmental noise. However, analyses focused on its developmental and genetic architecture are scarce. To advance on this topic, studies based on a comprehensive and simultaneous analysis of modularity, morphological integration and facial asymmetries including both phenotypic and genomic information are needed. Here we explore several modularity hypotheses on a sample of Latin American mestizos, in order to test if modularity and integration patterns differ across several genomic ancestry backgrounds. To do so, 4104 individuals were analyzed using 3D photogrammetry reconstructions and a set of 34 facial landmarks placed on each individual. We found a pattern of modularity and integration that is conserved across sub-samples differing in their genomic ancestry background. Specifically, a signal of modularity based on functional demands and organization of the face is regularly observed across the whole sample. Our results shed more light on previous evidence obtained from Genome Wide Association Studies performed on the same samples, indicating the action of different genomic regions contributing to the expression of the nose and mouth facial phenotypes. Our results also indicate that large samples including phenotypic and genomic metadata enable a better understanding of the developmental and genetic architecture of craniofacial phenotypes. Fil: Quinto Sanchez, Mirsha Emmanuel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Muñoz-Muñoz, Francesc. Universidad Nacional Autónoma de México; México Fil: Gomez-Valdes, Jorge. Universitat Autònoma de Barcelona; España Fil: Cintas, Celia. Instituto Nacional de Antropologia E Historia, Mexico; México Fil: Navarro, Pablo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Cerqueira, Caio Cesar Silva De. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Paschetta, Carolina Andrea. Equipe de Perícias Criminalísticas de Ourinhos; Fil: de Azevedo, Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Acuña-Alonzo, Victor. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Adhikari, Kaustubh. Colegio Universitario de Londres; Reino Unido Fil: Fuentes-Guajardo, MacArena. Instituto Nacional de Antropologia E Historia, Mexico; México Fil: Hünemeier, Tábita. Colegio Universitario de Londres; Reino Unido Fil: Everardo, Paola. Universidad de Tarapaca de Arica; Chile Fil: De Avila, Francisco. Colegio Universitario de Londres; Reino Unido Fil: Jaramillo, Claudia. Universidade de Sao Paulo; Brasil Fil: Arias, Williams. Instituto Nacional de Antropologia E Historia, Mexico; México Fil: Gallo, Carla. Universidad Nacional Autónoma de México; México Fil: Poletti, Giovani. Instituto Nacional de Antropologia E Historia, Mexico; México Fil: Bedoya Berrío, Gabriel. Universidad de Antioquia; Colombia Fil: Bortolini, Maria Catira. Universidad de Antioquia; Colombia Fil: Canizales-Quinteros, Samuel. Universidad Peruana Cayetano Heredia; Perú Fil: Rothhammer, Francisco. Universidad Peruana Cayetano Heredia; Perú Fil: Rosique, Javier. Universidad de Antioquia; Colombia Fil: Ruiz-Linares, Andres. Universidade Federal do Rio Grande do Sul; Brasil Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina

Fluctuating and directional asymmetry are aspects of morphological variation widely used to infer environmental and genetic factors affecting facial phenotypes. However, the genetic basis and environmental determinants of both asymmetry types is far from being completely known. The analysis of facial asymmetries in admixed individuals can be of help to characterize the impact of a genome's heterozygosity on the developmental basis of both fluctuating and directional asymmetries. Here we characterize the association between genetic ancestry and individual asymmetry on a sample of Latin-American admixed populations. To do so, three-dimensional (3D) facial shape attributes were explored on a sample of 4,104 volunteers aged between 18 and 85 years. Individual ancestry and heterozygosity was estimated using more than 730,000 genome-wide markers. Multivariate techniques applied to geometric morphometric data were used to evaluate the magnitude and significance of directional and fluctuating asymmetry (FA), as well as correlations and multiple regressions aimed to estimate the relationship between facial FA scores and heterozygosity and a set of covariates. Results indicate that directional and FA are both significant, the former being the strongest expression of asymmetry in this sample. In addition, our analyses suggest that there are some specific patterns of facial asymmetries characterizing the different ancestry groups. Finally, we find that more heterozygous individuals exhibit lower levels of asymmetry. Our results highlight the importance of including ancestry-admixture estimators, especially when the analyses are aimed to compare levels of asymmetries on groups differing on socioeconomic levels, as a proxy to estimate developmental noise.

Objectives The head can be used as a model to study complex phenotypes controlled simultaneously by morphological integration (MI) due to common factors, and modular patterns caused by local factors affecting the development and functional demands of specific structures. The fibroblast growth factor and receptor system (FGF/FGFR) participates in cell communication and pattern formation in osseous tissues, among others, and there is compelling evidence from mouse model studies suggesting a role of the FGF/FGFR pathway as a covariance-generating signaling process in head development. Here we use human data to test if specific genetic variants of another gene of this pathway, the FGFR1 gene, can be associated with differences in the integration of the head. Methods We explored whether and how three specific variants on FGFR1, previously associated with human cephalic index, influence the pattern and level of head integration of one Native American and one admixed group from Mexico. MI, measured as the intensity of covariation among head traits, was assessed using data from three-dimensional head landmark coordinates taken on 176 individuals. Results Individuals carrying the derived allele of the rs4647905:G>C polymorphism present significantly greater levels of head MI, especially in facial structures and on the shape space where the modular portion of the covariation is explicitly removed. Conclusions Since FGFR genes present nonconservative and tissue-specific splicing sites, they may have some effect on protein structure and performance likely involved in developmental processes responsible for the magnitude and pattern of MI in the human head. Am. J. Hum. Biol. 26:164–175, 2014. © 2013 Wiley Periodicals, Inc.

A3P-PACEA, UMR 5199 CNRS, University Bordeaux I, Talence 33405, FranceKEY WORDS shape analysis; hip bone; sex assessment; curve segmentation; SVM learn-ing modelABSTRACT The greater sciatic notch (GSN) is one ofthe most important and frequently used characteristics fordetermining the sex of skeletons, but objective assessmentof this characteristic is not without its difficulties. We testedthe robustness of GSN sex classification on the basis of geo-metric morphometrics (GM) and support vector machines(SVM), using two different population samples. Using pho-tographs, the shape of the GSN in 229 samples from twoassemblages (documented collections of a Euroamericanpopulation from the Maxwell Museum, University of NewMexico, and a Hispanic population from Universidad Nacio-nal Autonoma de Mexico, Mexico City) was segmentedautomatically and evaluated using six curve representa-tions. The optimal dimensionality for each representationwas determined by finding the best sex classification. Theclassification accuracy of the six curve representations inour study was similar but the highest and concurrentlyhomologous cross-validated accuracy of 92% was achievedfor a pooled sample using Fourier coefficient and Legendrepolynomial methods. The success rate of our classificationwas influenced by the number of semilandmarks or coeffi-cients and was only slightly affected by GSN marginalpoint positions. The intrapopulation variability of thefemale GSN shape was significantly lower compared withthe male variability, possibly as a consequence of theintense selection pressure associated with reproduction.Males were misclassified more often than females. Ourresults show that by using a suitable GSN curve represen-tation, a GM approach, and SVM analysis, it is possible toobtain a robust separation between the sexes that is stablefor a multipopulation sample. Am J Phys Anthropol152:558–565, 2013.

Our interdisciplinary study provides new information and interpretations of Ossuary I, a large assemblage of human bones associated with the ceremonial center dedicated to a life-size clay figure of a splendidly attired human skeleton (often identified as Mictlantecuhtli in the archaeological literature) at the site of El Zapotal in south-central Veracruz-Recovered in 1971, this assemblage has been interpreted as a ritual deposit of women who died during childbirth, whose bodies were dedicated in later Aztec lore to the Tlazolteotl goddess. The present paper provides new insights into the depositional sequence, the type and number of individuals within the assemblage, the sex and age profile of the mostly female cohort, the distribution of artificial head shapes as an ethnic marker, and evidence of perimortem violence and postmortem processing in the form of flaying. Our evidence indicates that Ossuary I represents the slow accumulation of loose bones and limb segments of partially skinned individuals in a circular shaft. Postdating the functioning of the Death God adoratorio and showing fluctuations in the patterns of pre-depositional body treatment, the assemblage expresses the Late Classic period ritual practice of flaying both males and females in Veracruz. In later stages, the ossuary was used again for a female cult, consistent with the original interpretation of women who died during childbirth.

The expression of facial asymmetries has been recurrently related with poverty and/or disadvantaged socioeconomic status. Departing from the developmental instability theory, previous approaches attempted to test the statistical relationship between the stress experienced by individuals grown in poor conditions and an increase in facial and corporal asymmetry.Here we aim to further evaluate such hypothesis on a large sample of admixed Latin Americans individuals by exploring if low socioeconomic status individuals tend to exhibit greater facial fluctuating asymmetry values. To do so, we implement Procrustes analysis of variance and Hierarchical Linear Modelling (HLM) to estimate potential associationsbetween facial fluctuating asymmetry values and socioeconomic status. We report significant relationships between facial fluctuating asymmetry values and age, sex, and genetic ancestry, while socioeconomic status failed to exhibit any strong statistical relationship with facial asymmetry. These results are persistent after the effect of heterozygosity (a proxy for genetic ancestry) is controlled in the model. Our results indicate that, at least on the studied sample, there is no relationship between socioeconomic stress (as intended as low socioeconomicstatus) and facial asymmetries. Fil: Quinto Sanchez, Mirsha Emmanuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina. Universidad Nacional Autónoma de México; México Fil: Cintas, Celia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Silva de Cerqueira, Caio Cesar. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina. Universidad Nacional Autónoma de México; México. Superintendência da Polícia Técnico-Científica do Estado de São Paulo; Brasil Fil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Acuña Alonzo, Victor. University College London; Estados Unidos. Instituto Nacional de Antropología E Historia; México Fil: Adhikari, Kaustubh. University College London; Estados Unidos Fil: Castillo, Lucía Daniela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina Fil: Gomez Valdés, Jorge. Escuela Nacional de Antropología e Historia; México Fil: Everardo, Paola. Instituto Nacional de Antropología E Historia; México Fil: De Avila, Francisco. Instituto Nacional de Antropología E Historia; México Fil: Hünemeier, Tábita. Universidade de Sao Paulo; Brasil Fil: Jaramillo, Claudia. Universidad de Antioquia; Colombia Fil: Arias, Williams. Universidad de Antioquia; Colombia Fil: Fuentes, Macarena. University College London; Estados Unidos. Universidad de Tarapacá; Chile Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú Fil: Poletti, Giovani. Universidad Peruana Cayetano Heredia; Perú Fil: Schuler Faccini, Lavinia. Universidade Federal do Rio Grande do Sul; Brasil Fil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasil Fil: Canizales Quinteros, Samuel. Universidad Nacional Autónoma de México; México Fil: Rothhammer, Francisco. Universidad de Tarapacá; Chile Fil: Bedoya, Gabriel. Universidad de Antioquia; Colombia Fil: Rosique, Javier. Universidad de Antioquia; Colombia Fil: Ruiz Linares, Andrés. University College London; Estados Unidos. Fudan University; China. Aix Marseille Univ; Francia Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina

The Mexica Empire reached an outstanding social, economic and politic organization among Mesoamerican civilizations. Even though archaeology and history provide substantial information about their past, their biological origin and the demographic consequences of their settlement in the Central Valley of Mexico remain unsolved. Two main hypotheses compete to explain the Mexica origin: a social reorganization of the groups already present in the Central Valley after the fall of the Classic centres or a population replacement of the Mesoamerican groups by migrants from the north and the consequent setting up of the Mexica society. Here, we show that the main changes in the facial phenotype occur during the Classic–Postclassic transition, rather than in the rise of the Mexica. Furthermore, Mexica facial morphology seems to be already present in the early phases of the Postclassic epoch and is not related to the northern facial pattern. A combination of geometric morphometrics with Relethford–Blangero analyses of within- versus among-group variation indicates that Postclassic groups are more variable than expected. This result suggests that intense gene exchange was likely after the fall of the Classic and maybe responsible for the Postclassic facial phenotype. The source population for the Postclassic groups could be located somewhere in western Mesoamerica, since North Mexico and Central Mesoamerican Preclassic and Classic groups are clearly divergent from the Postclassic ones. Similarity among Preclassic and Classic groups and those from Aridoamerica could be reflecting the ancestral phenotypic pattern characteristic of the groups that first settled Mesoamerica. Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina Fil: Martínez Abadías, Neus. Universidad de Barcelona; España Fil: González Martín, Antonio. Universidad Complutense de Madrid; España Fil: Bautista Martínez, Josefina. Instituto Nacional de Antropología e Historia; México Fil: Gómez Valdés, Jorge. Instituto Nacional de Antropología e Historia; México Fil: Quinto Sánchez, Mirsha Emmanuel. Universidad Autónoma del Estado de Hidalgo. Área Académica de Historia y Antropología; México Fil: Hernández, Miquel. Universidad de Barcelona; España

Here we evaluate morphological integration patterns and magnitudes in different skull regions to detect if shifts in morphological integration are correlated to the appearance of more processed (softer) diets.To do so, three transitional populations were analyzed, including samples from groups that inhabited the same geographical region and for which the evidence shows that major changes occurred in their subsistence mode. Ninety three-dimensional landmarks were digitized on 357 skulls and used as the raw data to develop geometric morphometric analyses. The landmark coordinates were divided into several different regions of biomechanical interest, following a three-level hierarchically nested scheme: the whole skull, further subdivided into neurocranium (divided into the vault and basicranium), the facial (divided into the lower and upper facial), and the masticatory apparatus (divided into alveolar, temporal, and temporo-mandibular joint).Our results indicate that the morphological integration and variability patterns significantly vary across skull regions but are maintained across the transitions. The alveolar border and the lower facial are the regions manifesting greater value of morphological integration and variability, while the upper facial, the temporo-mandibular joint, and the basicranium are highly integrated and poorly variable.The transition to softer diets increased morphological variation across cranial regions that are more exposed to masticatory strains effects.

The head can be used as a model to study complex phenotypes controlled simultaneously by morphological integration (MI) due to common factors, and modular patterns caused by local factors affecting the development and functional demands of specific structures. The fibroblast growth factor and receptor system (FGF/FGFR) participates in cell communication and pattern formation in osseous tissues, among others, and there is compelling evidence from mouse model studies suggesting a role of the FGF/FGFR pathway as a covariance-generating signaling process in head development. Here we use human data to test if specific genetic variants of another gene of this pathway, the FGFR1 gene, can be associated with differences in the integration of the head.We explored whether and how three specific variants on FGFR1, previously associated with human cephalic index, influence the pattern and level of head integration of one Native American and one admixed group from Mexico. MI, measured as the intensity of covariation among head traits, was assessed using data from three-dimensional head landmark coordinates taken on 176 individuals.Individuals carrying the derived allele of the rs4647905:GC polymorphism present significantly greater levels of head MI, especially in facial structures and on the shape space where the modular portion of the covariation is explicitly removed.Since FGFR genes present nonconservative and tissue-specific splicing sites, they may have some effect on protein structure and performance likely involved in developmental processes responsible for the magnitude and pattern of MI in the human head.

Objectives: The polymorphic site rs4647905 of the FGFR1 gene was previously associated with a decrease in cephalic index (CI). Here, we evaluate the relationships between genotypes and cephalometric measurements and indices in one Mexican Native and two mestizo Mexican populations using two haplotype-tag SNPs (rs4647905 and rs3213849) that represent >85% of the FGFR1 variability, plus three other SNPs (rs2293971, rs2304000, and rs930828) situated nearby. In addition, we genotyped five South American natives, two European, one African, and one Siberian populations to evaluate their intra and intercontinental population diversity. Methods: The five SNPs were tested and the craniofacial measurements and indices were collected using standardized procedures. Principal Component Analysis was used to verify individual/population comparisons. Associations were performed through the generalized linear model (GLM), coefficient of determination R2 and linear regression tests. Results: We found a tendency for a decrease in CI in individuals homozygous for allele rs4647905C, regardless of the population to which they belong, though the effect is more pronounced in mestizo. When the GLM analyses were performed using the absolute/linear cephalometric measurements, a statistically significant association was found between four SNPs and head length in the mestizo population. Conclusions: FGFR1 polymorphisms, especially rs4647905, can have an important role in the normal human skull variation, primarily due to their influence in head length, which would affect other cephalometric absolute/linear measures as well as indices like CI as a result of the pervasive nature of the morphological integration that characterizes the human skull. Am. J. Hum. Biol. 2013. © 2012 Wiley Periodicals, Inc.

Shifts in social structure and cultural practices can potentially promote unusual combinations of allele frequencies that drive the evolution of genetic and phenotypic novelties during human evolution. These cultural practices act in combination with geographical and linguistic barriers and can promote faster evolutionary changes shaped by gene–culture interactions. However, specific cases indicative of this interaction are scarce. Here we show that quantitative genetic parameters obtained from cephalometric data taken on 1,203 individuals analyzed in combination with genetic, climatic, social, and life-history data belonging to six South Amerindian populations are compatible with a scenario of rapid genetic and phenotypic evolution, probably mediated by cultural shifts. We found that the Xavánte experienced a remarkable pace of evolution: the rate of morphological change is far greater than expected for its time of split from their sister group, the Kayapó, which occurred around 1,500 y ago. We also suggest that this rapid differentiation was possible because of strong social-organization differences. Our results demonstrate how human groups deriving from a recent common ancestor can experience variable paces of phenotypic divergence, probably as a response to different cultural or social determinants. We suggest that assembling composite databases involving cultural and biological data will be of key importance to unravel cases of evolution modulated by the cultural environment. Fil: Hünemeier, Tábita. Universidade Federal do Rio Grande do Sul; Brasil Fil: Gómez Valdés, Jorge. Universidad Nacional Autónoma de México; México Fil: Ballesteros Romero, Mónica. Escuela Nacional de Antropología e Historia; México Fil: de Azevedo, Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico; Argentina Fil: Martínez Abadías, Neus. State University of Pennsylvania; Estados Unidos Fil: Esparza, Mireia. Universidad de Barcelona; España Fil: Sjøvold,Torstein. Stockholms Universitet; Suecia Fil: Bonatto, Sandro L.. Pontificia Universidade Catolica Do Rio Grande Do Sul; Brasil Fil: Salzano, Francisco Mauro. Universidade Federal do Rio Grande do Sul; Brasil Fil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasil Fil: González José, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico; Argentina

Sex estimation is the first step for biological profile reconstruction of an unknown skeleton (archaeological or contemporary) and consequently for positive identification of skeletal remains recovered from forensic settings. Several tools have been developed using different osseous structures. With the intention to provide an objective method comparison, we reported the analysis of three different methods (visual, metric and geometric morphometrics) for sex assessment of the greater sciatic notch. One hundred and thirty pelvic bones (45.4% females and 54.6% males) from the National Autonomous University of Mexico Skeletal Collection pertaining to the contemporary Mexican population were analyzed.We used the ROC-analysis to test between desired false positive thresholds (1-specificity) and expected true positive rates (sensitivity) in order to predict the best approach to sex assessment. The comparison of the area under the ROC-curves shows significant differences among visual and metric methods. At the same time, the analysis suggested that higher morphological variation among the sexes is independent of the methodological approach.The results indicate that the metric (angle), with a high percent of indeterminate cases (34.6%), and visual, with 26.2% of the cases allocated as intermediate cases, were poorly accurate; we cannot recommend these techniques for sexing an unknown specimen. On the other hand, the geometric morphometrics approach improves sex estimation in 82.3% of correctly classified individuals with more than 95% of posterior probability.In addition to the method comparison, the major sexual variation of the greater sciatic notch was determined to be located on its posterior border. Fil: Gómez Valdés, Jorge A.. Universidad Nacional Autónoma de México; México Fil: Quinto Sanchez, Mirsha Emmanuel. Escuela Nacional de Antropología e Historia; México. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Nacional Patagónico; Argentina Fil: Menéndez Garmendia, Antinea. Universidad Nacional Autónoma de México; México Fil: Veleminska, Jana. Charles University; República Checa Fil: Sánchez Mejorada, Gabriela. Universidad Nacional Autónoma de México; México Fil: Bruzek, Jaroslav. Universidad Nacional Autónoma de México; México. Universite de Bordeaux; Francia