Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 34
Filtrar
Mais filtros










Intervalo de ano de publicação
1.
Am J Biol Anthropol ; : e24933, 2024 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-38676665

RESUMO

OBJECTIVES: Early colonial documents from central Mesoamerica detail raising and planting of European livestock and crops alongside native ones. The extent to which Indigenous people, especially of the rural commoner class, consumed newly introduced foods is less known. This gap in knowledge is addressed through stable isotope analysis and comparison to published archaeological botanical, human, and faunal data. MATERIALS AND METHODS: Stable isotope analysis of bone collagen and bioapatite is applied to 74 skeletal samples of Indigenous human remains representing Colonial period individuals from El Japón-a farming hamlet in the Xochimilco area-to provide insight into long-term individual dietary practices in the context of a rapidly transforming Mesoamerican world. RESULTS: Carbon isotope ratios in collagen (δ13Ccollagen) average -8.10/00 VPDB (SD 0.55), while δ15N averages 8.90/00 AIR (SD 0.50). δ13Cbioapatite averages -2.90/00 VPDB (SD 0.60). Modest increase in carbon isotopic diversity is observed among more recent males from El Japón when compared to earlier males and females. DISCUSSION: Based on the isotopic results, it is estimated that the individuals of El Japón consumed maize or other C4 plants as a central source of carbohydrates. Dietary protein was largely supplied through domestic maize-fed fauna but potentially supplemented by wild terrestrial and aquatic fauna and fowl. Similarity in skeletal isotopic composition between precontact Mesoamericans from other sites and El Japón individuals of both earlier and later stratigraphy is interpreted as continuity in local diets and foodways despite potentially available European alternatives. Colonial taxation demands on preexisting agricultural regimes may have incentivized maize production, thus indirectly contributing to the maize-centered aspect of local foodways.


OBJETIVOS: Los textos de la época colonial temprana del centro de México documentan la producción de cultivos y ganado europeo a la par de los productos agropecuarios nativos. La magnitud a la cuál las comunidades indígenas consumieron estos productos se conoce con menos certeza en especial dentro de los asentamientos rurales. En este trabajo, se analiza la variabilidad de datos de isótopos estables en el sitio El Japón, Xochimilco y los resultados se comparan con respecto al sexo biológico y la cronología; así como también con datos publicados de muestras humanas y faunísticas. MATERIALES Y MÉTODOS: Se aplican los estudios de isotopos estables en colágeno y bioapatita a 74 muestras esqueléticas de El Japón de la época colonial temprana, una aldea agrícola del área de Xochimilco, con tal de abordar las practicas dietéticas en el contexto de un mundo Mesoamericano en transformación tras el contacto europeo. RESULTADOS: Los isótopos estables de carbono en colágeno (δ13Ccollagen) producen un promedio de −8.10/00 VPDB (DE 0.55), mientras tanto los isótopos estables de nitrógeno en el mismo tejido producen un promedio de 8.90/00 AIR (DE 0.50). Los isótopos estables de carbono en la bioapatita (δ13Cbioapatite) producen un promedio de −2.90/00 VPDB (DE 0.60). Se observa un incremento mínimo en la diversidad isotópica entre los individuos de sexo masculino en comparación a los individuos de sexo femenino de la etapa temprana y tardía del sitio. DISCUSIÓN: Con base en los resultados isotópicos, y con base en comparación a muestras humanas de contextos arqueológicos europeos y norteamericanos se estima que los individuos de El Japón consumieron maíz u otros cultivos tipo C4 como fuentes principales de carbohidratos. Las fuentes de proteína dietética posiblemente fueron fauna alimentada con maíz, pero también se pudieron haber suplementado con alimentos silvestres incluyendo aves silvestres, y fauna terrestre o acuática. La similitud en variación isotópica entre sitios mesoamericanos que preceden el contacto europeo y El Japón de ambas etapas (temprana y tardía) se interpretan como persistencia en fuentes de alimentación y tradiciones culinarias a pesar de las posibles alternativas europeas. Las demandas tributarias coloniales sobre la producción agrícola chinampera pudiesen haber contribuido indirectamente a la continuidad del maíz como fuente alimenticia principal.

2.
Commun Biol ; 6(1): 958, 2023 10 10.
Artigo em Inglês | MEDLINE | ID: mdl-37816865

RESUMO

The Nav1.7 voltage-gated sodium channel plays a key role in nociception. Three functional variants in the SCN9A gene (encoding M932L, V991L, and D1908G in Nav1.7), have recently been identified as stemming from Neanderthal introgression and to associate with pain symptomatology in UK BioBank data. In 1000 genomes data, these variants are absent in Europeans but common in Latin Americans. Analysing high-density genotype data from 7594 Latin Americans, we characterized Neanderthal introgression in SCN9A. We find that tracts of introgression occur on a Native American genomic background, have an average length of ~123 kb and overlap the M932L, V991L, and D1908G coding positions. Furthermore, we measured experimentally six pain thresholds in 1623 healthy Colombians. We found that Neanderthal ancestry in SCN9A is significantly associated with a lower mechanical pain threshold after sensitization with mustard oil and evidence of additivity of effects across Nav1.7 variants. Our findings support the reported association of Neanderthal Nav1.7 variants with clinical pain, define a specific sensory modality affected by archaic introgression in SCN9A and are consistent with independent effects of the Neanderthal variants on Nav1.7 function.


Assuntos
Homem de Neandertal , Limiar da Dor , Humanos , Animais , Homem de Neandertal/genética , Dor/genética , Canal de Sódio Disparado por Voltagem NAV1.7/genética , Nociceptividade
3.
Commun Biol ; 6(1): 481, 2023 05 08.
Artigo em Inglês | MEDLINE | ID: mdl-37156940

RESUMO

We report a genome-wide association study of facial features in >6000 Latin Americans based on automatic landmarking of 2D portraits and testing for association with inter-landmark distances. We detected significant associations (P-value <5 × 10-8) at 42 genome regions, nine of which have been previously reported. In follow-up analyses, 26 of the 33 novel regions replicate in East Asians, Europeans, or Africans, and one mouse homologous region influences craniofacial morphology in mice. The novel region in 1q32.3 shows introgression from Neanderthals and we find that the introgressed tract increases nasal height (consistent with the differentiation between Neanderthals and modern humans). Novel regions include candidate genes and genome regulatory elements previously implicated in craniofacial development, and show preferential transcription in cranial neural crest cells. The automated approach used here should simplify the collection of large study samples from across the world, facilitating a cosmopolitan characterization of the genetics of facial features.


Assuntos
Homem de Neandertal , Humanos , Animais , Camundongos , Homem de Neandertal/genética , Estudo de Associação Genômica Ampla , Nariz , Diferenciação Celular
4.
Mol Biol Evol ; 39(4)2022 04 11.
Artigo em Inglês | MEDLINE | ID: mdl-35460423

RESUMO

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.


Assuntos
Genética Populacional , Genoma Humano , Genômica/métodos , Hispânico ou Latino/genética , Humanos , Polimorfismo de Nucleotídeo Único/genética , População Branca/genética
5.
Elife ; 102021 08 05.
Artigo em Inglês | MEDLINE | ID: mdl-34350829

RESUMO

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.


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.


Assuntos
DNA Antigo/análise , Pessoas Escravizadas/história , Genoma Viral/genética , Vírus da Hepatite B/genética , Parvovirus B19 Humano/genética , População Negra/história , Vírus da Hepatite B/isolamento & purificação , Sequenciamento de Nucleotídeos em Larga Escala , História do Século XVI , História do Século XVII , História do Século XVIII , Humanos , Metagenômica , Parvovirus B19 Humano/isolamento & purificação
6.
Forensic Sci Int Genet ; 53: 102517, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33865096

RESUMO

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.


Assuntos
Cor de Olho/genética , Cor de Cabelo/genética , Polimorfismo de Nucleotídeo Único , Pigmentação da Pele/genética , Conjuntos de Dados como Assunto , Genética Populacional , Genótipo , Humanos , América Latina , Modelos Logísticos , Fenótipo
7.
Sci Adv ; 7(6)2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33547071

RESUMO

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.


Assuntos
Face , Polimorfismo de Nucleotídeo Único , Proteínas de Transporte Vesicular , Animais , Face/anatomia & histologia , Estudo de Associação Genômica Ampla , Genótipo , Hispânico ou Latino/genética , Humanos , Camundongos , Fenótipo , Proteínas de Transporte Vesicular/genética
8.
Philos Trans R Soc Lond B Biol Sci ; 375(1812): 20190580, 2020 11 23.
Artigo em Inglês | MEDLINE | ID: mdl-33012233

RESUMO

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'.


Assuntos
Genoma Bacteriano , Infecções por Bactérias Gram-Negativas/história , Periodontite/história , Tannerella forsythia/genética , Arqueologia , Genômica , Infecções por Bactérias Gram-Negativas/microbiologia , História do Século XV , História do Século XVI , História do Século XVII , História do Século XVIII , História Antiga , História Medieval , Humanos , México , Periodontite/microbiologia
9.
Rev. esp. med. legal ; 46(1): 12-19, ene.-mar. 2020. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-193985

RESUMO

INTRODUCCIÓN: El objetivo de este estudio fue la obtención de funciones discriminantes para estimación del sexo a partir de mediciones directas en metacarpos y metatarsos para contribuir en la identificación de individuos desconocidos. MATERIAL Y MÉTODOS: Se analizaron métricamente los metacarpos y metatarsos de 112 esqueletos adultos contemporáneos (49 femeninos y 63 masculinos) de la Colección-UNAM del Laboratorio de Antropología Física, Facultad de Medicina, UNAM. Empleando un vernier digital se tomaron 5 medidas (longitud máxima 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 asignación sexual correcta, siendo el segundo metacarpo el hueso más dimórfico 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 más dimórfico. De manera general, las anchuras en ambas epífisis fueron las medidas más dimórficas. 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 identificación humana, en restos completos o fragmentados, en el caso de no contar con otro elemento óseo, 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


Assuntos
Humanos , Masculino , Feminino , Determinação do Sexo pelo Esqueleto/métodos , Metacarpo/anatomia & histologia , Metatarso/anatomia & histologia , Antropometria/métodos , Identificação Biométrica/métodos , Antropologia Forense/métodos , Tamanho do Órgão , México , Reprodutibilidade dos Testes
10.
Nat Commun ; 10(1): 358, 2019 01 21.
Artigo em Inglês | MEDLINE | ID: mdl-30664655

RESUMO

We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple independent signals of association in the 11q14 and 15q13 regions (comprising the GRM5/TYR and HERC2/OCA2 genes, respectively) and several epistatic interactions among independently associated alleles. Strongest association with skin pigmentation at 19p13 was observed for an Y182H missense variant (common only in East Asians and Native Americans) in MFSD12, a gene recently associated with skin pigmentation in Africans. We show that the frequency of the derived allele at Y182H is significantly correlated with lower solar radiation intensity in East Asia and infer that MFSD12 was under selection in East Asians, probably after their split from Europeans.


Assuntos
Epistasia Genética , Cor de Olho/genética , Genoma Humano , Locos de Características Quantitativas , Pigmentação da Pele/genética , Alelos , Povo Asiático , Evolução Biológica , Etnicidade , Feminino , Expressão Gênica , Frequência do Gene , Genética Populacional , Estudo de Associação Genômica Ampla , Fatores de Troca do Nucleotídeo Guanina/genética , Humanos , América Latina , Masculino , Proteínas de Membrana/genética , Proteínas de Membrana Transportadoras/genética , Polimorfismo de Nucleotídeo Único , Receptor de Glutamato Metabotrópico 5/genética , Ubiquitina-Proteína Ligases , População Branca
11.
Nat Commun ; 9(1): 5388, 2018 12 19.
Artigo em Inglês | MEDLINE | ID: mdl-30568240

RESUMO

Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the intermixing (admixture) of Native Americans, Europeans and Sub-Saharan Africans. Using novel haplotype-based methods, here we infer sub-continental ancestry in over 6,500 Latin Americans and evaluate the impact of regional ancestry variation on physical appearance. We find that Native American ancestry components in Latin Americans correspond geographically to the present-day genetic structure of Native groups, and that sources of non-Native ancestry, and admixture timings, match documented migratory flows. We also detect South/East Mediterranean ancestry across Latin America, probably stemming mostly from the clandestine colonial migration of Christian converts of non-European origin (Conversos). Furthermore, we find that ancestry related to highland (Central Andean) versus lowland (Mapuche) Natives is associated with variation in facial features, particularly nose morphology, and detect significant differences in allele frequencies between these groups at loci previously associated with nose morphology in this sample.


Assuntos
Migração Humana , Indígenas Norte-Americanos/genética , Indígenas Sul-Americanos/genética , Haplótipos , Humanos , México , Nariz/anatomia & histologia , América do Sul
12.
J Forensic Leg Med ; 54: 87-90, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29331714

RESUMO

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 Menéndez et al. (2014) criteria, at the Facultad de Medicina (School of Medicine) of the Universidad Nacional Autónoma de México. 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.


Assuntos
Estatura , Fêmur/anatomia & histologia , Úmero/anatomia & histologia , Tíbia/anatomia & histologia , Feminino , Antropologia Forense , Humanos , Modelos Lineares , Masculino , México
13.
Sci Rep ; 8(1): 963, 2018 01 17.
Artigo em Inglês | MEDLINE | ID: mdl-29343858

RESUMO

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.


Assuntos
Face/anatomia & histologia , Face/fisiologia , Desenvolvimento Maxilofacial/genética , Adolescente , Adulto , Feminino , Estudo de Associação Genômica Ampla/métodos , Humanos , América Latina , Masculino , Pessoa de Meia-Idade , Fenótipo , Adulto Jovem
14.
Rev. esp. med. legal ; 43(4): 146-154, oct.-dic. 2017. tab, ilus, graf
Artigo em Espanhol | IBECS | ID: ibc-167691

RESUMO

Introducción. El presente trabajo tuvo como objetivos: conocer el grado de dimorfismo sexual entre una población de la Ciudad de México y otra de Hidalgo, México; y el desarrollo de funciones discriminantes para la estimación de sexo por medio de la mandíbula, para identificación humana. Material y métodos. Se analizaron morfométricamente mandíbulas de dos muestras, una procedente de la Ciudad de México (MEX) (Colección-UNAM) y otra de Santa María Xigui, Alfajayucan, Hidalgo, México (XIG). La muestra MEX consistió en 108 mandíbulas (75 masculinos y 33 femeninos) y en la muestra XIG se utilizaron 56 mandíbulas (33 femeninos y 30 masculinos), con una edad media entre 49,2 y 55,1 años. Se tomaron 18 medidas mandibulares y se desarrollaron cuatro funciones discriminantes para estimar el sexo con cada muestra. Resultados. Se observó el mismo patrón de diferenciación en ambas poblaciones, no obstante se presentaron diferencias entre estas, ya que se demostró que existe mayor grado de diferencias sexuales en XIG. Las funciones discriminantes desarrolladas para ambas poblaciones, alcanzaron entre el 76,4 y 84% de clasificación sexual correcta. Conclusiones. La muestra XIG presentó mayor dimorfismo sexual que la muestra MEX, con mandíbulas más alargadas y mentones altos y alargados. Las funciones discriminantes del presente trabajo presentan porcentajes de clasificación mayores a los de las demás propuestas existentes. Y al ser desarrolladas a partir de población contemporánea, pueden ser utilizadas en contextos forenses para identificación humana con restos completos o fragmentados y/o incompletos (AU)


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. Material and methods. Two samples of mandibles were analysed morphometrically, one from Mexico City (Colección-UNAM) (MEX), and the other from Santa María Xigui, Alfajayucan, Hidalgo, México (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 to 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. Conclusions. 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 (AU)


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Mandíbula , Determinação do Sexo pelo Esqueleto/métodos , Diferenciação Sexual , Caracteres Sexuais , Antropologia Forense/legislação & jurisprudência , Antropometria/métodos , Queixo/fisiologia , 28599 , Antropologia Forense/métodos
16.
Am J Phys Anthropol ; 162(3): 600-604, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28117482

RESUMO

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 María 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.


Assuntos
Antropologia Física/métodos , Ossos Pélvicos/anatomia & histologia , Determinação do Sexo pelo Esqueleto/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , México , Pessoa de Meia-Idade , Modelos Estatísticos , Reprodutibilidade dos Testes , Adulto Jovem
17.
PLoS One ; 12(1): e0169287, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28060876

RESUMO

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 associations between 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 socioeconomic status) and facial asymmetries.


Assuntos
Assimetria Facial/epidemiologia , Assimetria Facial/genética , Adolescente , Adulto , Feminino , Heterozigoto , Hispânico ou Latino/genética , Humanos , Masculino , Pessoa de Meia-Idade , Classe Social , Adulto Jovem
18.
Nat Commun ; 7: 11616, 2016 05 19.
Artigo em Inglês | MEDLINE | ID: mdl-27193062

RESUMO

We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10(-8)) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ∼3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion.


Assuntos
Proteínas Relacionadas a Caderinas/genética , Subunidade alfa 1 de Fator de Ligação ao Core/genética , Receptor Edar/genética , Face/anatomia & histologia , Proteínas do Tecido Nervoso/genética , Fatores de Transcrição Box Pareados/genética , Proteína Gli3 com Dedos de Zinco/genética , Adulto , Variação Anatômica , Animais , Estudo de Associação Genômica Ampla , Humanos , América Latina , Desenvolvimento Maxilofacial/genética , Camundongos , Polimorfismo de Nucleotídeo Único , Adulto Jovem
19.
Nat Commun ; 7: 10815, 2016 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-26926045

RESUMO

We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10(-8) to 3 × 10(-119)), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair.


Assuntos
Face/fisiologia , Regulação da Expressão Gênica/fisiologia , Estudo de Associação Genômica Ampla , Cabelo/crescimento & desenvolvimento , Grupos Raciais , Couro Cabeludo/fisiologia , Feminino , Variação Genética , Humanos , Masculino
20.
Am J Hum Biol ; 28(1): 118-28, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26126704

RESUMO

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.


Assuntos
Arqueologia , Cefalometria , Dieta , Mastigação , Crânio/anatomia & histologia , Análise de Variância , Pontos de Referência Anatômicos , Argentina , Feminino , Humanos , Masculino , México , Ohio
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...