Zygomaticomaxillary suture shape analyzed with digital morphometrics: reassessing patterns of variation in American Indian and European populations

Typological classification of human zygomaticomaxillary suture (ZMS) shape is often used in forensic assessment of ancestry, following earlier studies reporting higher frequencies of "angled" sutures among American Indians and higher frequencies of "curved" sutures among Caucasians. In this paper we present a new method of digital morphometrics to quantify and compare ZMS shape in 60 American Indian and 60 European crania. Suture outlines were recorded as three-dimensional (3D) contours on digital models of adult male and female crania created with a portable 3D laser scanner. Each contour was represented by about four hundred point coordinates, which were transformed via Fourier analysis into amplitude coefficients suitable for use in linear discriminant analysis. Discriminant functions were created that accurately predicted group membership for 83% of the crania in the sample, after leave-one-out cross-validation. The results were compared with traditional typological classifications based on visual evaluation of ZMS shape, and the contour-based method was found to be more effective than the typological approach. However, the distribution of ZMS types within the two sample groups did not conform to previously reported patterns. This discrepancy indicates that ZMS shape may reflect not only genetic factors, but also environmental factors such as diet and stress. In addition, some evidence for sexual dimorphism in the zygomaticomaxillary complex was observed. Based on these findings, we recommend caution when using ZMS shape analysis in forensic ancestry determination.     

Twelve short tandem repeat loci Y chromosome haplotypes: genetic analysis on populations residing in North America

A total of 2443 male individuals, previously typed for the 13 CODIS STR loci, distributed across the five North American population groups African American, Asian, Caucasian, Hispanic, and Native American were typed for the Y-STR loci DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439 using the PowerPlex Y System. All population samples were highly polymorphic for the 12 Y-STR loci with the marker DYS385a/b being the most polymorphic across all sample populations. The Native American population groups demonstrated the lowest genetic diversity, most notably at the DYS393 and DYS437 loci. Almost all of the 12-locus haplotypes observed in the sample populations were represented only once in the database. Haplotype diversities were greater than 99.6% for the African Americans, Caucasians, Hispanics, and Asians. The Native Americans had the lowest haplotype diversities (Apaches, 97.0%; Navajo, 98.1%). Population substructure effects were greater for Y-haplotypes, compared with that for the autosomal loci. For the apportionment of variance for the 12 Y-STRs, the within sample population variation was the largest component (>98% for each major population group and approximately 97% in Native Americans), and the variance component contributed by the major population groups was less than the individual component, but much greater than among sample populations within a major group (11.79% versus 1.02% for African Americans/Caucasians/Hispanics and 15.35% versus 1.25% for all five major populations). When each major population is analyzed individually, the R(ST) values were low but showed significant among group heterogeneity. In 692 confirmed father-son pairs, 14 mutation events were observed with the average rate of 1.57x10(-3)/locus/generation (a 95% confidence bound of 0.83x10(-3) to 2.69x10(-3)). Since the Y-STR loci reside on the non-recombining region of the Y chromosome, the counting method is one approach suggested for conveying an estimate of the rarity of the Y-haplotype. Because the Y-STR loci are not all in disequilibrium to the same extent, the counting method is a very conservative approach. The data also support that autosomal STR frequencies can be multiplied by the upper bound frequency estimate of a Y-haplotype in the individual population group or those pooled into major population groups (i.e., Caucasian, African American, Hispanic, and Asian). These analyses support use of the haplotype population data for estimating Y-STR profile frequencies for populations residing in North America.     

A Quantitative Assessment of Zygomatic Projection for Ancestry Estimation

Anterior zygomatic projection (ZP) is historically referenced as a useful trait in ancestry estimation, particularly when differentiating between Native Americans and U.S. Whites and Blacks. However, methods of assessing ZP vary, are susceptible to multiple interpretations, and have not been quantitatively validated. This study uses 228 3D surface scans of U.S. Whites, U.S. Blacks, and Native Americans to quantitatively test the ZP methods published by Rhine in 1990 (Skeletal attribution of race: methods for forensic anthropology, Albuquerque, NM, Maxwell Museum of Anthropology, 1990) and Bass in 1995 (Human osteology: a laboratory and field manual, Columbia, MO: Missouri Archaeological Society, 1995). Two ZP angles and two distances, representing method interpretations, were collected and analyzed via ANOVA and discriminant function analyses. Although significant ancestry differences were found across all variables, only the Bass inferior zygomatic distance successfully differentiated the pooled Native American group from pooled U.S. Whites/Blacks (73.7% correct). Arctic Native Americans, displaying the most projecting zygomas, are driving group differences. Significant overlap in measurement distributions were observed between groups in all variables, indicating limited forensic utility.     

Forensic Applicability of Femur Subtrochanteric Shape to Ancestry Assessment in Thai and White American Males

Ancestry assessment from the postcranial skeleton presents a significant challenge to forensic anthropologists. However, metric dimensions of the femur subtrochanteric region are believed to distinguish between individuals of Asian and non‐Asian descent. This study tests the discriminatory power of subtrochanteric shape using modern samples of 128 Thai and 77 White American males. Results indicate that the samples' platymeric index distributions are significantly different (p ≤ 0.001), with the Thai platymeric index range generally lower and the White American range generally higher. While the application of ancestry assessment methods developed from Native American subtrochanteric data results in low correct classification rates for the Thai sample (50.8–57.8%), adapting these methods to the current samples leads to better classification. The Thai data may be more useful in forensic analysis than previously published subtrochanteric data derived from Native American samples. Adapting methods to include appropriate geographic and contemporaneous populations increases the accuracy of femur subtrochanteric ancestry methods.     

Distribution of Y chromosomal STRs loci in Mayan and Mestizo populations from Guatemala

In this study, a sample of 225 Guatemalan males, comprising 115 Mestizo-Guatemalan and 110 Mayan-Guatemalan, was typed for 17 Y-short tandem repeats (STRs) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, YGATA_H4.1 and DYS385a/b). The haplotype diversity (H = 1) and discrimination capacity (96.86%) were calculated. Analysis of molecular variance (AMOVA) demonstrated a low but significant interpopulation differentiation when compared with the results obtained when we confront the Mestizo and Mayan populations with the European populations.Furthermore, the genetic variability and differences among the American, African, Asian, and European populations were analyzed with the software Statistica 9.1. In addition, the genetic distances were also calculated using other published data. Reynolds and Slatkińs genetic distance was visualized using the multidimensional scaling (MDS) analysis. All the analysis performed locates the Mayan population next to the Native American population, while Guatemalan-Mestizo population was found to be between these populations and the European population, similar to other Mestizo one.The implementation of the estimation of individual ancestry proportions of the whole population sample showed the presence of two well-differentiated population groups.     

Understanding (Mis)classification Trends of Latin Americans in Fordisc 3.1: Incorporating Cranial Morphology,Microgeographic Origin,and Admixture Proportions for Interpretation

Assigning correct population affinity to a skeleton can contribute important information to an investigation—yet recent work highlights high error rates when classifying Latinos with a traditional tool, Fordisc 3.1 (FD3). Our study examines whether misclassification trends exist, and whether these can be used to infer population affinity. We examine the relationships among ancestry, geography, and FD3 misclassifications of Latinos using canonical variate analysis and unsupervised model‐based clustering of craniometrics. Northern Mexicans appear more strongly associated with FD3 references samples with elevated amounts of European ancestry (e.g., American Blacks and Whites), while Southern Mexicans are more strongly associated with FD3 reference samples with reduced amounts of European ancestry (e.g., Guatemalans and Native Americans). FD3 classifications revealed that Latinos exhibited lower posterior probabilities when compared to other common case demographics (Whites and African Americas), even when the classification was “correct.” We make recommendations for practitioner interpretation of FD3 reports for casework.     

Population variation in femur subtrochanteric shape

Use of proximal femur shape to determine ancestry has appeal, but its validity is problematic because of unaddressed issues associated with skeletal plasticity, within- and between-population variation, sample selection, and interobserver error. In this paper, I inspect within- and between-group variation in proximal femur shape using five groups (American Blacks, American Whites, Hispanics, Native Americans, and Polynesians), and examine the affect of three environmental variables (subsistence strategy, physical terrain, and geographical region). Finally. I consider the validity of using the proximal femur to assess ancestry. The results show that there is significant within-group variation in proximal femur shape. Among Native Americans, both geographical location and subsistence strategy have a significant affect on proximal femur shape. Nevertheless, this study generally verifies the assertion that the proximal femur can be used reliably to distinguish Native Americans from American Blacks and Whites, but its precision may be reduced in some geographical regions.     

Analysis of eight mtDNA coding region polymorphisms for characterization of the female lineages ancestry in Alagoas,Brazil

In this work we evaluated eight mitochondrial DNA coding region polymorphisms (8281–8289d, 1736, 13263, 4883, 3594, 10873, 10400, and 12705) in order to identify lineages of African, Amerindian and European origin in Alagoas, Northeastern Brazil. Seven of these polymorphisms were detected by multiplex minisequencing with SnaPshot. For validation purposes a sample previously characterized by sequencing of the HVI and HVII regions was analyzed. Good agreement was observed between the phylogenetic results obtained in this work and the HVI and HVII regions sequencing. The results obtained suggest that the set of markers evaluated in this study can be used in ancestry studies of Brazilian populations.     

Divergent genetic strata in five Bahamian islands

Based on historical records, the genetic landscape of the Bahamian archipelago is presumed to be complex and to exhibit island-specific characteristics, yet the genetic composition of the island chain, which could corroborate or refute these past accounts, remains poorly defined. As such, the current investigation was undertaken to genetically characterize 5 Bahamian populations representing the Northwest (Grand Bahama and Abaco) and Central (Eleuthera, Exuma and Long Island) Bahamas across the 15 autosomal Identifiler loci routinely employed in forensic analyses. Altogether, our findings suggest that Bahamians are a genetically heterogeneous group, with each island sampled receiving differential contributions from African, European, East Asian and Native American sources. Even though the strongest genetic signal in all 5 collections emanates from continental Africa, inter-island differentiation is noted in both the Structure and admixture analyses. The presence of alleles not in common among the 5 insular populations also signals genetic heterogeneity among the islands of the archipelago. This is especially the case when considering the Long Island population, which exhibits statistically significant genetic differences in relation to the other Bahamian collections and the New World groups of African descent (Afro-American and Afro-Caribbean) in the G-test pair-wise comparisons, even after application of the Bonferroni adjustment.     

Differentiating among racial/ethnic groups and its implications for understanding juvenile justice decision making

Both theory and research have been refined to gain a better understanding of when race and ethnicity matter in justice proceedings. In the present research, this line of inquiry was continued by differentiating among minority youth to assess the extent being African American, Native American, and Asian American influenced juvenile justice decision making and how these effects compared to one another and Whites. Utilizing an interpretation of the symbolic threat thesis that emphasizes stereotyping, the authors anticipated Native Americans to be responded to more severely than African Americans, followed by Asian Americans who were anticipated to be responded to more like Whites. The results indicated partial support for these expectations.     

The anatomical diaspora: evidence of early American anatomical traditions in North Dakota

The current focus in forensic anthropology on increasing scientific certainty in ancestry determination reinforces the need to examine the ancestry of skeletal remains used for osteology instruction. Human skeletal remains were discovered on the University of North Dakota campus in 2007. After recovery, the osteological examination resulted in a profile for a 33- to 46-year-old woman of African descent with stature ranging from 56.3 to 61.0 in. The pattern of postmortem damage indicated that the remains had been prepared for use as an anatomical teaching specimen. Review of the American history of anatomical teaching revealed a preference for Black subjects, which apparently extended to states like North Dakota despite extremely low resident populations of people of African descent. This study emphasizes the need to examine the ancestry of older teaching specimens that lack provenience, rather than assuming they are derived from typical (i.e., Indian) sources of anatomical material.     

Genetic structure among 38 populations from the United States based on 11 U.S. core Y chromosome STRs

A DNA database consisting of the 11 Y chromosome short-tandem-repeat (Y-STR) recommended by the Scientific Working Group on DNA Analysis Methods is constructed for 2517 individuals from 38 populations in the United States. The population samples derive from five ethnic groups currently living in 10 states. A multidimensional scaling (MDS) plot places the populations into four discrete clusters (African Americans (AA), European Americans (EA), Hispanic Americans (HA), and Asian Americans (SA)) and one dispersed cluster of Native Americans. An analysis of molecular variance (AMOVA) indicates that a large proportion of the total genetic variance is partitioned among ethnic groups (24.8%), whereas only a small amount (1.5%) is found among-populations within ethnic groups. Separate AMOVA analyses within each ethnic group show that only the NA sample contains statistically significant among-population variation. Pair wise population differentiation tests do uncover heterogeneity among EA and among HA populations; however, this is due to only a single sample within each group. The analyses support the creation of AA, EA, HA, and Asian American databases in which samples from different geographic regions within the United States are pooled. We recommend that separate databases be constructed for different NA groups.     

The Use of Femoral Neck Axis Length to Estimate Sex and Ancestry

Having multiple reliable methods of estimating sex and ancestry from various skeletal features increases the likelihood of identifying skeletal remains. Femoral neck axis length (FNAL), as measured in living individuals, has been shown to vary by sex and ancestry. FNAL has not, however, been previously measured directly from skeletonized remains and investigated for its potential use in forensic anthropological applications. This research proposes a method for measuring FNAL from skeletal remains, determines the reliability and repeatability of the measurement, and assesses the validity of FNAL in sex and ancestry estimation. Results showed low interobserver error in the measurement of FNAL (TEM = 0.33 mm, R = 0.99). Significant differences in FNAL were found between sexes as well as between American Black, American White, and Native American groups. FNAL can correctly classify sex in ~86% of all cases and is considered valuable to sex estimation. The value of FNAL to ancestry estimation, however, is considered limited.     

Application of Fordisc 3.0 to Explore Differences Among Crania of North American and South African Blacks and Whites,

Using discriminant function analysis, classification accuracies for ancestry and sex in white and black South Africans were compared using North American (FDB), African groups in Howells (HDB), and South African (SADB) databases in FORDISC 3.0. (FD3). Twenty‐four standard linear measures were collected from a total of 86 black and 101 white crania obtained from the Pretoria Bone Collection. White and black South Africans classified 73% correctly in FDB, 55% correctly in HDB, and 71% correctly in SADB. The percentage of atypical cases was higher with FDB than SADB. In all three databases, misclassification occurred more with sex than ancestry revealing differences in sexual dimorphism between population groups. Broad ancestral differences may explain low misclassification rates for ancestry. FD3, with a modern South African reference sample, can assist South African anthropologists to standardize methodology and to justify procedures for estimating ancestry.     

Assessing zygomatic shape and size for estimating sex and ancestry in a South African sample

Unidentified, decomposed and skeletonised human remains are frequently found in South Africa, therefore, standardised, reliable and relevant sex and ancestry estimation methods are required for forensic identification. This study assessed sex and ancestral variation in zygomatic size and shape in a South African population using geometric morphometric analyses. The zygoma of 158 South African individuals were sampled. Eight zygomatic landmarks were captured in 3-dimensions using a Microscribe G2 digitiser and assessed using procrustean geometric morphometrics. Shape and size differences were analysed using multivariate linear regression, discriminant function and canonical variate analyses. Males had significantly larger zygomas than females. Significant shape variation was found between ancestral groups. Bantu-speaking and Mixed ancestry individuals had narrower, shorter and more anteriorly projecting orbital margins, whilst Europeans had vertically elongated and receded orbital margins. European ancestral groups were most discernible from Bantu-speakers and Mixed ancestral groups. Ancestry estimation accuracies improved when ancestry was aggregated with sex. Pairwise ancestry-linked comparisons in females were as follows; Bantu-speakers (76%) from Europeans (72%), Bantu-speakers (71%) from Mixed ancestry (59%) and European (72%) from Mixed ancestry (63%). Similarly, ancestry-linked comparisons in males were as follows; Bantu-speakers (77%) from Europeans (81%), Bantu-speakers (53%) from Mixed ancestry (59%) and European (72%) from Mixed ancestry (82%). Size differences are putatively linked to variations in hormone-regulated growth and muscular robusticity between males and females. Shape variations between ancestral groups are likely attributable to the heterogenous genetic and ancestral origins of the South African population. It is challenging to distinguish between South Africa Bantu speakers and Mixed ancestry people due to Mixed ancestry individuals having variable genetic contributions from Khoesan, Bantu-speakers, Europeans and Asians. Bantu-speaking and Mixed ancestry people had zygomatic morphologies consistent with historical thermoregulatory adaptations to sub-Saharan climates, reported in African-descendants. Zygomatic morphology in European descendants suggests ancestral origins from colder climatic regions. This study demonstrated the utility of the zygoma in distinguishing between ancestral groups in South Africa, but further research is required to develop population-specific standards to distinguish between South African populations with shared African ancestry. The zygoma shows a promising ability to estimate sex and ancestry in South Africans, suggesting population specific standards for this bone may be of forensic interest.     

Ancestral analysis of a Native American Ecuadorian family with congenital insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder characterized by self-mutilating behavior, unexplained fever, inability to sweat and intellectual disability. CIPA pathogenesis is associated with genetic loss-of-function mutations of the NTRK1 gene, which is auto phosphorylated activating intracellular signaling transduction such as cell survival, growth and differentiation. CIPA occurs with an incidence of 1 in 125 million newborns, and only some hundreds of cases have been reported worldwide. Most of cases have been reported in Asian countries. Here, we estimate the ancestral proportions of a family with consanguinity background affected with CIPA, who carries the missense pathogenic mutations rs80356677 (Asp674Tyr) in the kinase domain of NTRK1 and rs324420 (Pro129Thr) in the FAAH gene. The ancestral proportion was calculated through 45 ancestry informative markers (AIMs) and the comparison was done through the Human Genome Diversity Project panel. The resulting allele frequencies in CIPA family indicate a prevalence of the Native American ancestral component with 87.9%, and minor proportion for the European (8.9%) and African (3%) components. In conclusion, the genetic variations expressing CIPA in a Native American Ecuadorian family could have been caused by the insertion of certain genetic characteristics, which have been passed down from common ancestors as consequence of migration towards South America.     

Genes involved in damage response caused by UV radiation in Ecuadorian population of different altitude regions

Ecuador has various regions at different altitudes. It is known that at high altitudes, organisms experience multiple stressors, including exposure to ultraviolet (UV) radiation. The UV radiation exposure increases when getting closer to the Equator line. Consequently, cities in the Ecuadorian inter-Andean region and located at 2,800-3,000 m above sea level (masl) are exposed to UV levels approximately 40% higher than those of the lowlands. UV light is a carcinogen that causes mutations, DNA damage and cellular apoptosis. However, the XPC, XPD and XPG genes encode proteins that repair DNA caused by UV radiation. The aim of this study was to evaluate the distribution of three polymorphisms (rs2228001, rs13181 and rs17655) involved in the response to the damage caused by UV radiation in the Ecuadorian populations of high and low altitudes, and thus, correlate the ancestral proportions of these populations. Results showed that the behavior of both groups located at different altitudes is similar. The ancestry of these groups exhibited that the Native American component prevails, and the European and African component varies.     

A reevaluation of the sex prediction accuracy of the minimum supero-inferior femoral neck diameter for modern individuals

The results of an independent test of the minimum supero-inferior femoral neck diameter as a sex predictor are presented. Seidemann et al. (1) generated discriminant functions for Caucasians, African-Americans, and a combined race sample from the Hamann-Todd skeletal collection. Jackknifed classification matrices and the use of independent, random validation samples indicated a sex prediction accuracy in the 90% range. This, combined with a high rate of preservation, makes the femoral neck a significant measure for forensic applications. However, the method has not been evaluated on a truly modern sample. Data were collected for 94 males and 49 females from the Documented Collection at the University of New Mexico. The sample consists of 94 Caucasians, 33 African Americans, three modern Native Americans, two Hispanics, and 11 individuals of unknown ancestry. All individuals were born after the turn of the century. We evaluate the accuracy of the discriminant functions generated from the Hamann-Todd control sample. For Caucasians, 83% were correctly classified, for African Americans 97% were correctly classified and for the combined race function 85% were correctly classified. This decrease in accuracy is the result of the increase in African American male and all female sample means. This effectively decreases the separation between males and females for the femoral neck diameter. We generate new discriminant functions from the modern data and jackknife the classification matrices. The Caucasian function was 84% accurate, the African-American function was 82% accurate and the combined sample function was 85% accurate. The femoral neck may provide a useful alternative to multivariate techniques for individuals who are poorly preserved.