Twenty-five thousand-year-old triple burial from Dolní Věstonice: An ice-age family?

In 1986 a palaeolithic triple burial was discovered near Dolní Věstonice (Czech Republic). The occurrence of anatomic variants in all three skeletons gave rise to speculations that the buried individuals may have been closely related. To test this hypothesis the skeletons were submitted to a systematic kinship analysis based on odontologic and other non-metric traits. Statistical tests showed that the coincident occurrence of several rare traits in the individuals is highly unlikely to occur at random. This and further data included in the analysis therefore suggest that the three individuals buried together were genetically related and actually belonged to one family. Am J Phys Anthropol 102:123–131. © 1997 Wiley-Liss, Inc.     

Identification of family relationships by epigenetic traits

In analyzing family burials, it is often necessary to establish the nature of the family relationship. This study examines 18 skulls from the 14th and 15th century, presumptively assigned to the family of the Counts of Celje from the territory of present-day Slovenia. Though DNA analysis is the identification method of choice, it is not always possible to apply it. In our case we were unable to isolate the genetic material and had to use classical identification methods. After determining sex and age, we established the kinship by comparison of X-ray images of paranasal cavities (frontal and maxillary sinuses, and also orbital and nasal cavities), the shape and size of which are autosomal dominant inherited characters. The comparison also extends to numerous other likewise inherited epigenetic trait similarities on the skulls. We identified all skulls, compared them with historical and genealogical data, grouped them into nuclear families--one of them is presented in this article-, and proved that they belong to the assigned family. This multidisciplinary work, based on latest epigenetic research, is highly relevant for modern non-genetic identification studies and verification of kinship by skulls collectively interred and can be applied in similar cases where isolation of DNA is no longer possible, even though the skeletal remains may not be old.     

The facial restoration of Antal Simon, a Hungarian priest-teacher of the 19th c.

A large series of well documented, naturally mummified individuals were discovered during reconstruction works at the Dominican church in Vác in 1994--1995. Among them was Antal Simon (1772--1808), a well-known priest and teacher, the director of the Institute of the Deaf in Vác in the 19th century. His remains were used to reconstruct the facial appearance, employing standard techniques. There is an authentic painted portrait of him. The finished facial reconstruction was compared to this portrait. As a measure of the effectiveness of the reconstruction, the technique of superimposition was also used, which represented a direct comparison of the features of the portrait with those of the reconstructed face. The topographical, morphological and anatomical characteristics of the two faces were compared with the following results: 62% of the reconstructed traits showed great resemblance to the original face, 35% showed close resemblance and 3% showed approximate resemblance.     

Geometric morphometric assessment of sexually dimorphic characteristics of the distal humerus

A number of recent studies investigated the use of morphological characteristics of the distal humerus to estimate the sex of unknown individuals. Using visual assessment, accuracies ranging from 74% to more than 90% were reported. The aim of this study was to assess these traits with geometric morphometrics, in order to determine if they corroborate the findings described with pure visual assessment. A total sample of 155 female and 175 male humeri of South Africans were used. All humeri were photographed in standardized positions from a posterior and inferior view, and homologous landmarks assigned. Olecranon fossa shape, angle of the medial epicondyle and trochlear symmetry were assessed. Males and females could be separated with accuracies ranging from 78% to 91%. The results of this study confirm the existence of these traits and their usability in assessment of sex from skeletal remains, and the observed anatomical characteristics largely agree with what have been described by visual assessment.     

Osteological and molecular identification of Brucellosis in ancient Butrint, Albania

Ancient skeletal remains can harbor unique information about past civilizations at both the morphological and molecular levels. For instance, a number of diseases manifest in bone, some of which have been confirmed through DNA analysis, verifying their presence in ancient populations. In this study, anthropological analysis of skeletal remains from the ancient Albanian city of Butrint identified individuals with severe circular lytic lesions on their thoracic and lumbar vertebrae. Differential diagnosis suggested that the lesions resulted from pathologies known to affect these skeletal regions, such as tuberculosis (TB) or brucellosis. Relevant bones of two adolescent males from the 10th to 13th century AD that displayed the lesions, along with unaffected individuals, were collected in the field. Genetic screening of the skeletal samples for TB was repeatedly negative, thus additional testing for Brucella spp.-bacteria of livestock and the causative agent of brucellosis in humans-was conducted. Two Brucella DNA markers, the IS6501 insertion element and Bcsp31 gene, amplified from the affected vertebrae and/or ribs, whereas all unaffected individuals and control samples were negative. Subsequent DNA sequencing confirmed the presence of the brucellar IS6501 insertion element. On the basis of the skeletal lesions, negative tests for TB, and positive Brucella findings, we report a confirmed occurrence of brucellosis in archaeologically recovered human bone. These findings suggest that brucellosis has been endemic to the area since at least the Middle Ages.     

An argument for the use of total side frequencies of bilateral nonmetric skeletal traits in population distance analysis: The regression of symmetry on incidence

In population studies based on frequencies of bilateral nonmetric skeletal traits, the choice between sampling by individuals or by sides should depend less on the exigencies imposed by fragmentary remains than on fundamental assumptions about the biological meaning of symmetry/asymmetry. Though the latter has been interpreted in various ways, little attention has focused on the possibility that bilateral correlation is meaningful in quantifying genetic liability for a trait. Analysis of two independent mandibular features, mylohyoid bridge and suppressed third molar, in Indian and Eskimo population samples (total N ? 1,200) reveals a statistically significant pattern of increasing bilateral occurrence with increasing population incidence. This pattern is consistent with the theory that liability for a “quasi-continuous” variant is normally distributed with constant increment between thresholds on an underlying scale. According to theory, phenotypes with more pronounced expression (bilateral occurrence) have greater genetic potential than those with less pronounced expression (unilateral occurrence). Therefore, scoring traits in total left and right sides, by giving greater weight to bilaterally affected individuals, may provide a better estimate of the liability for the trait in the population. Viewed in a theoretical context broader than that of the sampling debate, this pattern of positive regression of symmetry on incidence means that prevalence of unilateral occurrence probably cannot be used to assess the relative strength of genetic versus nongenetic control of threshold variants.     

Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis

In contrast to large GWA studies based on thousands of individuals and large meta-analyses combining GWAS results, we analyzed a small case/control sample for uric acid nephrolithiasis. Our cohort of closely related individuals is derived from a small, genetically isolated village in Sardinia, with well-characterized genealogical data linking the extant population up to the 16(th) century. It is expected that the number of risk alleles involved in complex disorders is smaller in isolated founder populations than in more diverse populations, and the power to detect association with complex traits may be increased when related, homogeneous affected individuals are selected, as they are more likely to be enriched with and share specific risk variants than are unrelated, affected individuals from the general population. When related individuals are included in an association study, correlations among relatives must be accurately taken into account to ensure validity of the results. A recently proposed association method uses an empirical genotypic covariance matrix estimated from genome-screen data to allow for additional population structure and cryptic relatedness that may not be captured by the genealogical data. We apply the method to our data, and we also investigate the properties of the method, as well as other association methods, in our highly inbred population, as previous applications were to outbred samples. The more promising regions identified in our initial study in the genetic isolate were then further investigated in an independent sample collected from the Italian population. Among the loci that showed association in this study, we observed evidence of a possible involvement of the region encompassing the gene LRRC16A, already associated to serum uric acid levels in a large meta-analysis of 14 GWAS, suggesting that this locus might lead a pathway for uric acid metabolism that may be involved in gout as well as in nephrolithiasis.     

基于高密度单核苷酸多态性的共祖远亲缘关系预测算法准确性研究

目的 研究构建基于共祖（identity-by-descent，IBD）片段算法预测远亲缘关系分析流程并评估预测准确性。方法 采用高密度单核苷酸多态性（single nucleotide polymorphism，SNP）芯片对253份家系样本进行检测，研究基于IBD片段算法的分析流程进行两两个体间亲缘关系预测，评估预测准确性。随机减少SNP位点，评估位点数对算法预测准确性的影响。结果 IBD片段算法预测1~7级亲缘关系平均置信区间准确率为94.72%，预测可信度为99.77%，6级及以上亲缘关系预测时出现假阴性。随着SNP数量减少，预测准确性会出现一定程度的下降。结论 IBD片段算法可用于7级以内亲缘关系的预测，该算法在群体遗传学、法医遗传学等领域有重要应用价值。     

Familial segregation in the iron age community of Alfedena, Abruzzo, Italy, based on osteodental trait analysis

Numerous authors have studied human cemetery remains with an eye toward identifying different socially stratified ethnic or kinship groups within the same population. The interments of the protohistoric graveyard of Alfedena, Abruzzo, Italy, show recurrent organization in separate structures, suggesting to several involved archaeologists that these structures express family groups and/or differences in social function of the occupants. This has induced us to analyze the possible biological implications of specific models for kinship groups, lineages, or mating forms in graveyards. One hundred ninety-six metric and nonmetric skeletal and dental variables were collected. The analysis of metric features was performed by analysis of variance and by calculating divergences between each pair of individuals. The position parameters of the inter-and intragroup distance distributions were then compared by means of nonparametric tests. The nonmetric features were analyzed by contingency tables. The partition of intercircle variance is twice as frequently significant for males (20 variables) as for females (10). For metric variables in males, 20.9% displayed a probability level less than 5% for the null hypothesis of random distribution of individuals in the circles. Fewer (10.3%, but still more than expected at random) reached this level of significance for the females. In the male groups, 19% of nonmetric features showed significant frequency differences, but this was true in only 4.3% of the females.(ABSTRACT TRUNCATED AT 250 WORDS)     

The relationship between kinship marriages and longevity in Azerbaijan

In order to elucidate the role of inbreeding in human longevity, the individuals of both sexes aged 80-100 and more, all residents of the Azerbaijan SSR, were exposed to a genealogical examination. It was found that 22.46% of men and 12.92% of women were born in kinship marriages. The familial longevity indices appeared to be high in this examination. The inbreeding in the presence of favourable heredity does not reduce the level of longevity in the above region.     

Evaluation of morphological sex determinations by molecular analyses

The study presents an evaluation of morphological sex determinations of adult skeletal individuals based on traits of the ossa coxae and the cranium. The evaluation criterion was genetic analysis of the amelogenine gene, which represents parts of the X- and the Y-chromosome (Mannucci et al. 1994). The study was carried out on 33 human skeletons from an early modern burial site in Lower Saxony. In this skeletal series, 88% of the morphological sex determinations matched the genetic sex. The percentage of matches was further improved, if only those morphological determinations were taken into account that were classified as unambiguous by a self-evaluation. In the reverse case, a significant number of non-matching determinations (33%) resulted from those cases in which a sex determination still seemed possible but was classified as "ambiguous" in the self-evaluation. At least within this skeletal series, no clear connection could be detected between the number of matching results and the presence or absence of the ossa coxae. This might be due to a strong cranial dimorphism within this particular skeletal series.     

Quantitative founder-effect analysis of French Canadian families identifies specific loci contributing to metabolic phenotypes of hypertension

The Saguenay-Lac St-Jean population of Quebec is relatively isolated and has genealogical records dating to the 17th-century French founders. In 120 extended families with at least one sib pair affected with early-onset hypertension and/or dyslipidemia, we analyzed the genetic determinants of hypertension and related cardiovascular and metabolic conditions. Variance-components linkage analysis revealed 46 loci after 100,000 permutations. The most prominent clusters of overlapping quantitative-trait loci were on chromosomes 1 and 3, a finding supported by principal-components and bivariate analyses. These genetic determinants were further tested by classifying families by use of LOD score density analysis for each measured phenotype at every 5 cM. Our study showed the founder effect over several generations and classes of living individuals. This quantitative genealogical approach supports the notion of the ancestral causality of traits uniquely present and inherited in distinct family classes. With the founder effect, traits determined within population subsets are measurably and quantitatively transmitted through generational lineage, with a precise component contributing to phenotypic variance. These methods should accelerate the uncovering of causal haplotypes in complex diseases such as hypertension and metabolic syndrome.     

Kin and kinship psychology both influence cooperative coordination in Yasawa,Fiji

Genes shared through common ancestry are among the oldest social bonds. Despite these ancient roots, humans often co-opt the psychology of genetic relatedness and extend it to genetically unrelated others through culturally-acquired kinship systems. We investigate how genealogical relatedness and kinship norms might mutually support or oppose each other within a known kin network in Yasawa, Fiji. Yasawans' reliance on intensive, kin-based cooperation for daily life makes Yasawan kinship an interesting test case to compare the effects of genealogy and kinship norms. Confirming qualitative ethnographic claims, we find that Yasawan kin terms can be described in two dimensions of respect/closeness and joking/authority. Individual players use different strategies for genealogical relatives and non-relatives by making economic game choices that are increasingly beneficial to partners who share a higher percentage of genes through common ancestry. However, pairs of players are most successful in coordinating their game choices despite conflicting self-interests based upon kinship norms relevant to hierarchy. Thus, while genealogical relatedness may boost generosity, the extra behavioral structuring from kinship norms facilitates more productive but difficult coordinated action even when communication is not possible.     

Genetic Divergence in Mandible Form in Relation to Molecular Divergence in Inbred Mouse Strains

Genetic divergence in the form of the mandible is examined in ten inbred strains of mice. Several univariate and multivariate genetic distance estimates are given for the morphological data and these estimates are compared to measures of genealogical and molecular divergence. Highly significant divergence occurs among the ten strains in all 11 mandible traits considered individually and simultaneously. Genealogical relationship among strains is highly correlated with genetic divergence in single locus molecular traits. However, the concordance between genealogical relationship and multivariate genetic divergence in morphology is much more complex. Whether there is a significant correlation between morphological divergence and genealogy depends upon the method of analysis and the particular genetic distance statistic being employed.     

Sexually dimorphic pelvic morphology in South African whites and blacks

It is well known that there is metric and morphologic variation in the expression of sexual dimorphism between racial phenotypes and populations. Therefore, the purpose of this research is to assess morphologic sex differences in the pelves of South African whites and blacks. Results will be used to improve the identification of human skeletal remains by producing group specific standards. Morphologic features of both left and right os coxae were studied in a sample of 400 known sex/race individuals from the Pretoria and Dart collections. Bones that were clearly pathologic or visibly deformed were excluded from the study. Data were subjected to SPSS analysis.

Results indicated that overall, pubic bone shape was the easiest to assess and was the most consistently reliable morphological indicator of sex in both sexes and population groups. At 88% average accuracy, the most discriminating traits in whites were pubic bone shape and subpubic concavity form. In blacks, greater sciatic notch form allowed the highest separation, averaging 87.5%, followed by pubic shape at 84.5%. Important findings included the fact that there were significant differences in the accuracy of sex determination from pelvic morphology between both males and females and whites and blacks.

In conclusion, this study provides quantification of individual morphological traits in the os coxae of white and black South Africans that will be of value in forensic and archaeological analyses, especially when dealing with fragmentary remains. It also demonstrates that population differences affect the expression of sexual dimorphism and must be accounted for to develop the most effective methods of analysis.     

Ancient DNA reveals kinship burial patterns of a pre-Columbian Andean community

ABSTRACT: BACKGROUND: A detailed genetic study of the pre-Columbian population inhabiting the Tompullo 2 archaeological site (department Arequipa, Peru) was undertaken to resolve the kin relationships between individuals buried in six different chullpas. Kin relationships were an important factor shaping the social organization in the pre-Columbian Andean communities, centering on the ayllu, a group of relatives that shared a common land and responsibilities. The aim of this study was to evaluate whether this Andean model of a social organization had an influence on mortuary practices, in particular to determine whether chullpas served as family graves. RESULTS: The remains of forty-one individuals were analyzed with both uniparental (mtDNA, Y-chromosome) and biparental (autosomal microsatellites) markers. Reproducible HVRI sequences, autosomal and Y chromosomal STR profiles were obtained for 24, 16 and 11 individuals, respectively. Mitochondrial DNA diversity was comparable to that of ancient and contemporary Andean populations. The Tompullo 2 population exhibited the closest relationship with the modern population from the same region. A kinship analysis revealed complex pattern of relations within and between the graves. However mean relatedness coefficients regarding the pairs of individuals buried in the same grave were significantly higher than those regarding pairs buried in different graves. The Y chromosome profiles of 11 males suggest that only members of one male line were buried in the same grave. CONCLUSIONS: Genetic investigation of the population that inhabited Tompullo 2 site shows continuity between pre-Columbian and modern Native Amerindian populations inhabiting the Arequipa region. This suggests that no major demographic processes have influenced the mitochondrial DNA diversity of these populations during the past five hundred years. The kinship analysis involving uni- and biparental markers suggests that the community that inhabited the Tompullo 2 site was organized into extended family groups that were buried in different graves. This finding is in congruence with known models of social organization of Andean communities.     

Concordance of cranial and dental morphological traits and evidence for endogamy in ancient Egypt

A biological affinities study based on frequencies of cranial nonmetric traits in skeletal samples from three cemeteries at predynastic Naqada, Egypt, confirms the results of a recent nonmetric dental morphological analysis. Both cranial and dental traits analyses indicate that the individuals buried in a cemetery characterized archaeologically as high status are significantly different from individuals buried in two other, apparently nonelite cemeteries and that the nonelite samples are not significantly different from each other. A comparison with neighbouring Nile Valley skeletal samples suggests that the high status cemetery represents an endogamous ruling or elite segment of the local population at Naqada, which is more closely related to populations in northern Nubia than to neighbouring populations in southern Egypt. © 1996 Wiley-Liss, Inc.     

Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?

Risk of cutaneous malignant melanoma (CMM) is increased in sun-exposed whites, particularly those with a pale complexion. This study was designed to investigate the relationship of the melanocortin-1 receptor (MC1R) genotype to CMM risk, controlled for pigmentation phenotype. We report the occurrence of five common MC1R variants in an Australian population-based sample of 460 individuals with familial and sporadic CMM and 399 control individuals-and their relationship to such other risk factors as skin, hair, and eye color; freckling; and nevus count. There was a strong relationship between MC1R variants and hair color and skin type. Moreover, MC1R variants were found in 72% of the individuals with CMM, whereas only 56% of the control individuals carried at least one variant (P<.001), a finding independent of strength of family history of melanoma. Three active alleles (Arg151Cys, Arg160Trp, and Asp294His), previously associated with red hair, doubled CMM risk for each additional allele carried (odds ratio 2.0; 95% confidence interval 1. 6-2.6). No such independent association could be demonstrated with the Val60Leu and Asp84Glu variants. Among pale-skinned individuals alone, this association between CMM and MC1R variants was absent, but it persisted among those reporting a medium or olive/dark complexion. We conclude that the effect that MC1R variant alleles have on CMM is partly mediated via determination of pigmentation phenotype and that these alleles may also negate the protection normally afforded by darker skin coloring in some members of this white population.     

Phenotypic variation and water selection potential in the stem structure of invasive alligator weed

The morphological and anatomical characteristics of stems have been found to be related to drought resistance in plants. Testing the phenotypic selection of water availability on stem anatomical traits would be useful for exploring the evolutionary potential of the stem in response to water availability. To test the phenotypic variation of the stem anatomical traits of an invasive plant in response to water availability, we collected a total of 320 individuals of Alternanthera philoxeroides from 16 populations from terrestrial and aquatic habitats in 8 plots in China and then analyzed the variation, differentiation, plasticity and selection potential of water availability on the stem anatomical traits. We found that except for the thickness of the cortex, all of the examined phenotypic parameters of the A. philoxeroides stem were significantly and positively correlated with soil water availability. The phenotypic differentiation coefficient for all of the anatomical structural parameters indicated that most of the variation existed between habitats within the same plot, whereas there was little variation among plots or among individuals within the same habitat except for variation in the thickness of the cortex. A significant phenotypic plasticity response to water availability was found for all of the anatomical traits of A. philoxeroides stem except for the thickness of the cortex. The associations between fitness and some of the anatomical traits, such as the stem diameter, the cortex area-to-stem area ratio, the pith cavity area-to-stem area ratio and the density of vascular bundles, differed with heterogeneous water availability. In both the aquatic and terrestrial habitats, no significant directional selection gradient was found for the stem diameter, the cortex area-to-stem area ratio or the density of vascular bundles. These results indicated that the anatomical structure of the A. philoxeroides stem may play an important role in the adaptation to changes in water availability.     

Consistency between marker- and genealogy-based heritability estimates in an experimental stand of Prosopis alba (Leguminosae)

Prosopis represents a valuable forest resource in arid and semiarid regions. Management of promising species requires information about genetic parameters, mainly the heritability (h(2)) of quantitative profitable traits. This parameter is traditionally estimated from progeny tests or half-sib analysis conducted in experimental stands. Such an approach estimates h(2) from the ratio of between-family/total phenotypic variance. These analyses are difficult to apply to natural populations of species with a long life cycle, overlapping generations, and a mixed mating system, without genealogical information. A promising alternative is the use of molecular marker information to infer relatedness between individuals and to estimate h(2) from the regression of phenotypic similarity on inferred relatedness. In the current study we compared h(2) of 13 quantitative traits estimated by these two methods in an experimental stand of P. alba, where genealogical information was available. We inferred pairwise relatedness by Ritland's method using six microsatellite loci. Relatedness and heritability estimates from molecular information were highly correlated to the values obtained from genealogical data. Although Ritland's method yields lower h(2) estimates and tends to overestimate genetic correlations between traits, this approach is useful to predict the expected relative gain of different quantitative traits under selection without genealogical information.