OBJECTIVES: This study presents biological affinities between the last hunter-fisher-gatherers and first food-producing societies from the Nile Valley. We investigate odontometric and dental tissue proportion changes between these populations from the Middle Nile Valley and acknowledge the biological processes behind them. MATERIALS AND METHODS: Dental remains of 329 individuals from Nubia and Central Sudan that date from the Late Pleistocene to the mid-Holocene are studied. Using 3D imaging techniques, we investigated outer and inner metric aspects of upper central incisors, and first and second upper molars. RESULTS: Late Paleolithic and Mesolithic foragers display homogeneous crown dimensions, dental tissue proportions, and enamel thickness distribution. This contrasts with Neolithic trends for significant differences from earlier samples on inner and outer aspects. Finally, within the Neolithic sample differences are found between Nubian and Central Sudanese sites. DISCUSSION: Substantial dental variation appears to have occurred around 6000 bce in the Nile Valley, coinciding with the emergence of food-producing societies in the region. Archeological and biological records suggest little differences in dietary habits and dental health during this transition. Furthermore, the substantial variations identified here would have happened in an extremely short time, a few centuries at most. This does not support in situ diet-related adaptation. Rather, we suggest these data are consistent with some level of population discontinuity between the Mesolithic and Neolithic samples considered here. Complex settlement processes could also explain the differences between Nubia and Central Sudan, and with previous results based on nonmetric traits.

• MeSH
• History, Ancient MeSH
• Diet history   MeSH
• Adult MeSH
• Humans MeSH
• Molar anatomy & histology   MeSH
• Paleodontology * MeSH
• Incisor anatomy & histology   MeSH
• Tooth anatomy & histology   chemistry   MeSH
• Check Tag
• History, Ancient MeSH
• Adult MeSH
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Historical Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Sudan MeSH

On the basis of new examination of ancient DNA and craniometric analyses, Neolithic dispersal in Central Europe has been recently explained as reflecting colonization or at least a major influx of near eastern farmers. Given the fact that Neolithic dispersal in Central Europe was very rapid and extended into a large area, colonization would have to be associated with high population growth and fertility rates of an expanding Neolithic population. We built three demographic models to test whether the growth and fertility rates of Neolithic farmers were high enough to allow them to colonize Central Europe without admixture with foragers. The principle of the models is based on stochastic population projections. Our results demonstrate that colonization is an unlikely explanation for the Neolithic dispersal in Central Europe, as the majority of fertility and growth rate estimates obtained in all three models are higher than levels expected in the early Neolithic population. On the basis of our models, we derived that colonization would be possible only if (1) more than 37% of women survived to mean age at childbearing, (2) Neolithic expansion in Central Europe lasted more than 150 years, and (3) the population of farmers grew in the entire settled area. These settings, however, represent very favorable demographic conditions that seem unlikely given current archaeological and demographic evidence. Therefore, our results support the view that Neolithic dispersal in Central Europe involved admixture of expanding farmers with local foragers. We estimate that the admixture contribution from foragers may have been between 55% and 72%.

• MeSH
• Survival Analysis MeSH
• Anthropology, Physical MeSH
• Models, Biological MeSH
• History, Ancient MeSH
• DNA analysis   genetics   MeSH
• Emigration and Immigration MeSH
• Cephalometry MeSH
• Humans MeSH
• Parity MeSH
• Population Dynamics history   MeSH
• Regression Analysis MeSH
• Stochastic Processes MeSH
• Agriculture MeSH
• Check Tag
• History, Ancient MeSH
• Humans MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Historical Article MeSH
• Geographicals
• Europe MeSH

Uniparentally-inherited markers on mitochondrial DNA (mtDNA) and the non-recombining regions of the Y chromosome (NRY), have been used for the past 30 years to investigate the history of humans from a maternal and paternal perspective. Researchers have preferred mtDNA due to its abundance in the cells, and comparatively high substitution rate. Conversely, the NRY is less susceptible to back mutations and saturation, and is potentially more informative than mtDNA owing to its longer sequence length. However, due to comparatively poor NRY coverage via shotgun sequencing, and the relatively low and biased representation of Y-chromosome variants on capture assays such as the 1240 k, ancient DNA studies often fail to utilize the unique perspective that the NRY can yield. Here we introduce a new DNA enrichment assay, coined YMCA (Y-mappable capture assay), that targets the "mappable" regions of the NRY. We show that compared to low-coverage shotgun sequencing and 1240 k capture, YMCA significantly improves the mean coverage and number of sites covered on the NRY, increasing the number of Y-haplogroup informative SNPs, and allowing for the identification of previously undiscovered variants. To illustrate the power of YMCA, we show that the analysis of ancient Y-chromosome lineages can help to resolve Y-chromosomal haplogroups. As a case study, we focus on H2, a haplogroup associated with a critical event in European human history: the Neolithic transition. By disentangling the evolutionary history of this haplogroup, we further elucidate the two separate paths by which early farmers expanded from Anatolia and the Near East to western Europe.

• MeSH
• Alleles * MeSH
• Genetic Markers MeSH
• Genetic Testing MeSH
• Haplotypes * MeSH
• Polymorphism, Single Nucleotide MeSH
• Humans MeSH
• Chromosomes, Human, Y * MeSH
• DNA, Mitochondrial MeSH
• Genetics, Population * methods   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

The Neolithic transition in west Eurasia occurred in two main steps: the gradual development of sedentism and plant cultivation in the Near East and the subsequent spread of Neolithic cultures into the Aegean and across Europe after 7000 cal BCE. Here, we use published ancient genomes to investigate gene flow events in west Eurasia during the Neolithic transition. We confirm that the Early Neolithic central Anatolians in the ninth millennium BCE were probably descendants of local hunter-gatherers, rather than immigrants from the Levant or Iran. We further study the emergence of post-7000 cal BCE north Aegean Neolithic communities. Although Aegean farmers have frequently been assumed to be colonists originating from either central Anatolia or from the Levant, our findings raise alternative possibilities: north Aegean Neolithic populations may have been the product of multiple westward migrations, including south Anatolian emigrants, or they may have been descendants of local Aegean Mesolithic groups who adopted farming. These scenarios are consistent with the diversity of material cultures among Aegean Neolithic communities and the inheritance of local forager know-how. The demographic and cultural dynamics behind the earliest spread of Neolithic culture in the Aegean could therefore be distinct from the subsequent Neolithization of mainland Europe.

• MeSH
• Archaeology MeSH
• History, Ancient MeSH
• Genome, Human * MeSH
• Genomics MeSH
• Humans MeSH
• Human Migration history   MeSH
• Gene Flow * MeSH
• Farmers history   MeSH
• Agriculture history   MeSH
• Check Tag
• History, Ancient MeSH
• Humans MeSH
• Publication type
• Journal Article MeSH
• Historical Article MeSH
• Geographicals
• Greece MeSH
• Turkey MeSH

To analyze the contribution of the Czech population to the Y-chromosome diversity landscape of Europe and to reconstruct past demographic events, we typed 257 males from five locations for 21 UEPs. Moreover, 141 carriers of the three most common haplogroups were typed for 10 microsatellites and coalescent analyses applied. Sixteen Hg's characterized by derived alleles were identified, the most common being R1a-SRY(10831) and P-DYS257*(xR1a). The pool of haplogroups within I-M170 represented the third most common clade. Overall, the degree of population structure was low. The ages for Hg I-M170, P-DYS257*(xR1a), and R1a-SRY(10831) ap peared to be comparable and compatible with their presence during or soon after the LGM. A signal of population growth beginning in the first millennium B.C. was detected. Its similarity among the three most common Hg's indicated that growth was characteristic for a gene pool that already contained all of them. The Czech population appears to be influenced, to a very moderate extent, by genetic inputs from outside Europe in the post-Neolithic and historical times. Population growth postdated the archaeologically documented introduction of Neolithic technology and the estimated central value coincides with a period of repeated changes driven by the development of metal technologies and the associated social and trade organization.

• MeSH
• Analysis of Variance MeSH
• DNA Primers MeSH
• Genetic Variation * MeSH
• Haplotypes genetics   MeSH
• Humans MeSH
• Chromosomes, Human, Y genetics   MeSH
• Microsatellite Repeats genetics   MeSH
• Evolution, Molecular * MeSH
• Population Dynamics * MeSH
• Check Tag
• Humans MeSH
• Male MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Comparative Study MeSH
• Geographicals
• Czech Republic MeSH

• MeSH
• Biological Evolution MeSH
• Genetic Phenomena MeSH
• Cultural Evolution MeSH
• Paleontology MeSH
• Genetics, Population MeSH
• Publication type
• Monograph MeSH

• Conspectus
• Obecná genetika. Obecná cytogenetika. Evoluce
• NML Fields
• genetika, lékařská genetika
• biologie

Human culture, biology, and health were shaped dramatically by the onset of agriculture ∼12,000 y B.P. This shift is hypothesized to have resulted in increased individual fitness and population growth as evidenced by archaeological and population genomic data alongside a decline in physiological health as inferred from skeletal remains. Here, we consider osteological and ancient DNA data from the same prehistoric individuals to study human stature variation as a proxy for health across a transition to agriculture. Specifically, we compared “predicted” genetic contributions to height from paleogenomic data and “achieved” adult osteological height estimated from long bone measurements for 167 individuals across Europe spanning the Upper Paleolithic to Iron Age (∼38,000 to 2,400 B.P.). We found that individuals from the Neolithic were shorter than expected (given their individual polygenic height scores) by an average of −3.82 cm relative to individuals from the Upper Paleolithic and Mesolithic (P = 0.040) and −2.21 cm shorter relative to post-Neolithic individuals (P = 0.068), with osteological vs. expected stature steadily increasing across the Copper (+1.95 cm relative to the Neolithic), Bronze (+2.70 cm), and Iron (+3.27 cm) Ages. These results were attenuated when we additionally accounted for genome-wide genetic ancestry variation: for example, with Neolithic individuals −2.82 cm shorter than expected on average relative to pre-Neolithic individuals (P = 0.120). We also incorporated observations of paleopathological indicators of nonspecific stress that can persist from childhood to adulthood in skeletal remains into our model. Overall, our work highlights the potential of integrating disparate datasets to explore proxies of health in prehistory.

• MeSH
• History, Ancient MeSH
• Child MeSH
• Adult MeSH
• Genetic Variation MeSH
• Genomics MeSH
• Skeleton * anatomy & histology   MeSH
• Humans MeSH
• Paleopathology MeSH
• DNA, Ancient MeSH
• Body Height * genetics   MeSH
• Health * history   MeSH
• Farmers * history   MeSH
• Agriculture * history   MeSH
• Check Tag
• History, Ancient MeSH
• Child MeSH
• Adult MeSH
• Humans MeSH
• Publication type
• Journal Article MeSH
• Historical Article MeSH
• Geographicals
• Europe MeSH

Increased sedentism during the Holocene has been proposed as a major cause of decreased skeletal robusticity (bone strength relative to body size) in modern humans. When and why declining mobility occurred has profound implications for reconstructing past population history and health, but it has proven difficult to characterize archaeologically. In this study we evaluate temporal trends in relative strength of the upper and lower limb bones in a sample of 1,842 individuals from across Europe extending from the Upper Paleolithic [11,000-33,000 calibrated years (Cal y) B.P.] through the 20th century. A large decline in anteroposterior bending strength of the femur and tibia occurs beginning in the Neolithic (∼ 4,000-7,000 Cal y B.P.) and continues through the Iron/Roman period (∼ 2,000 Cal y B.P.), with no subsequent directional change. Declines in mediolateral bending strength of the lower limb bones and strength of the humerus are much smaller and less consistent. Together these results strongly implicate declining mobility as the specific behavioral factor underlying these changes. Mobility levels first declined at the onset of food production, but the transition to a more sedentary lifestyle was gradual, extending through later agricultural intensification. This finding only partially supports models that tie increased sedentism to a relatively abrupt Neolithic Demographic Transition in Europe. The lack of subsequent change in relative bone strength indicates that increasing mechanization and urbanization had only relatively small effects on skeletal robusticity, suggesting that moderate changes in activity level are not sufficient stimuli for bone deposition or resorption.

• MeSH
• Biomechanical Phenomena MeSH
• History, Ancient MeSH
• Humans MeSH
• Sedentary Behavior * MeSH
• Food Supply * MeSH
• Agriculture MeSH
• Fossils MeSH
• Check Tag
• History, Ancient MeSH
• Humans MeSH
• Publication type
• Journal Article MeSH
• Historical Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Research Support, U.S. Gov't, Non-P.H.S. MeSH
• Geographicals
• Europe MeSH

Hereditary cystathioninuria is due to mutations in the CTH gene that encodes for cystathionase, a pyridoxal-5'-phosphate (PLP) dependent enzyme. To date, mutations in this gene have been described in 10 unrelated cystathioninuric patients. Enzyme assays have showed that mutated cystathionase exhibits lower activity than controls. As cystathioninuria is usually accompanied by a wide variety of symptoms, it has been questioned whether it is a disease or just a biochemical finding not associated with the clinical picture of these patients. This is the first report of Spanish patients with cystathioninuria and mild to severe neurological symptoms in childhood. After oral pyridoxine therapy biochemical parameters have normalized but clinical amelioration was not evident. All patients were homozygotes for the c.200C>T (p.T67I) variant which is the most prevalent inactivating mutation in the CTH gene. To further investigate the history of the alleles carrying the c.200C>T transition in Europe, we also constructed the haplotypes on the CTH locus in our Spanish patients as well as in a clinical series of cystathioninuric patients from the Czech Republic harboring the same nucleotide change. We suggest that the CTH p.T67I substitution could have an ancient common origin, which probably occurred in the Neolithic Era and spread throughout Europe.

• MeSH
• Alleles * MeSH
• Cystathionine gamma-Lyase genetics   MeSH
• Child MeSH
• Genetic Variation genetics   MeSH
• Hyperhomocysteinemia genetics   MeSH
• Humans MeSH
• Child, Preschool MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Czech Republic MeSH
• Europe MeSH