New Insights into the Lake Chad Basin Population Structure Revealed by High-Throughput Genotyping of Mitochondrial DNA Coding SNPs

BACKGROUND: Located in the Sudan belt, the Chad Basin forms a remarkable ecosystem, where several unique agricultural and pastoral techniques have been developed. Both from an archaeological and a genetic point of view, this region has been interpreted to be the center of a bidirectional corridor connecting West and East Africa, as well as a meeting point for populations coming from North Africa through the Saharan desert. METHODOLOGY/PRINCIPAL FINDINGS: Samples from twelve ethnic groups from the Chad Basin (n = 542) have been high-throughput genotyped for 230 coding region mitochondrial DNA (mtDNA) Single Nucleotide Polymorphisms (mtSNPs) using Matrix-Assisted Laser Desorption/Ionization Time-Of-Flight (MALDI-TOF) mass spectrometry. This set of mtSNPs allowed for much better phylogenetic resolution than previous studies of this geographic region, enabling new insights into its population history. Notable haplogroup (hg) heterogeneity has been observed in the Chad Basin mirroring the different demographic histories of these ethnic groups. As estimated using a Bayesian framework, nomadic populations showed negative growth which was not always correlated to their estimated effective population sizes. Nomads also showed lower diversity values than sedentary groups. CONCLUSIONS/SIGNIFICANCE: Compared to sedentary population, nomads showed signals of stronger genetic drift occurring in their ancestral populations. These populations, however, retained more haplotype diversity in their hypervariable segments I (HVS-I), but not their mtSNPs, suggesting a more ancestral ethnogenesis. Whereas the nomadic population showed a higher Mediterranean influence signaled mainly by sub-lineages of M1, R0, U6, and U5, the other populations showed a more consistent sub-Saharan pattern. Although lifestyle may have an influence on diversity patterns and hg composition, analysis of molecular variance has not identified these differences. The present study indicates that analysis of mtSNPs at high resolution could be a fast and extensive approach for screening variation in population studies where labor-intensive techniques such as entire genome sequencing remain unfeasible

Counting the Founders: The Matrilineal Genetic Ancestry of the Jewish Diaspora

The history of the Jewish Diaspora dates back to the Assyrian and Babylonian conquests in the Levant, followed by complex demographic and migratory trajectories over the ensuing millennia which pose a serious challenge to unraveling population genetic patterns. Here we ask whether phylogenetic analysis, based on highly resolved mitochondrial DNA (mtDNA) phylogenies can discern among maternal ancestries of the Diaspora. Accordingly, 1,142 samples from 14 different non-Ashkenazi Jewish communities were analyzed. A list of complete mtDNA sequences was established for all variants present at high frequency in the communities studied, along with high-resolution genotyping of all samples. Unlike the previously reported pattern observed among Ashkenazi Jews, the numerically major portion of the non-Ashkenazi Jews, currently estimated at 5 million people and comprised of the Moroccan, Iraqi, Iranian and Iberian Exile Jewish communities showed no evidence for a narrow founder effect, which did however characterize the smaller and more remote Belmonte, Indian and the two Caucasus communities. The Indian and Ethiopian Jewish sample sets suggested local female introgression, while mtDNAs in all other communities studied belong to a well-characterized West Eurasian pool of maternal lineages. Absence of sub-Saharan African mtDNA lineages among the North African Jewish communities suggests negligible or low level of admixture with females of the host populations among whom the African haplogroup (Hg) L0-L3 sub-clades variants are common. In contrast, the North African and Iberian Exile Jewish communities show influence of putative Iberian admixture as documented by mtDNA Hg HV0 variants. These findings highlight striking differences in the demographic history of the widespread Jewish Diaspora

Dissolved organic carbon transformations and microbial community response to variations in recharge waters in a shallow carbonate aquifer

© 2016, The Author(s). In carbonate aquifers, dissolved organic carbon from the surface drives heterotrophic metabolism, generating CO2 in the subsurface. Although this has been a proposed mechanism for enhanced dissolution at the water table, respiration rates and their controlling factors have not been widely evaluated. This study investigates the composition and concentration of dissolved organic carbon (DOC) reaching the water table from different recharge pathways on a subtropical carbonate island using a combination of DOC concentration measurements, fluorescence and absorption characterisation. In addition, direct measurements of the microbial response to the differing water types were made. Interactions of rainfall with the vegetation, via throughfall and stemflow, increase the concentration of DOC. The highest DOC concentrations are associated with stemflow, overland recharge and dissolution hole waters which interact with bark lignin and exhibit strong terrestrial-derived characteristics. The groundwater samples exhibit the lowest concentrations of DOC and are comprised of refractory humic-like organic matter. The heterotrophic response seems to be controlled by the concentration of DOC in the sample. The terrestrially sourced humic-like matter in the stemflow and dissolution hole samples was highly labile, thus increasing the amount of biologically produced CO2 to drive dissolution. Based on the calculated respiration rates, microbial activity could enhance carbonate dissolution, increasing porosity generation by a maximum of 1%kyr−1 at the top of the freshwater lens

Evolutionary Analyses of Entire Genomes Do Not Support the Association of mtDNA Mutations with Ras/MAPK Pathway Syndromes

BACKGROUND: There are several known autosomal genes responsible for Ras/MAPK pathway syndromes, including Noonan syndrome (NS) and related disorders (such as LEOPARD, neurofibromatosis type 1), although mutations of these genes do not explain all cases. Due to the important role played by the mitochondrion in the energetic metabolism of cardiac muscle, it was recently proposed that variation in the mitochondrial DNA (mtDNA) genome could be a risk factor in the Noonan phenotype and in hypertrophic cardiomyopathy (HCM), which is a common clinical feature in Ras/MAPK pathway syndromes. In order to test these hypotheses, we sequenced entire mtDNA genomes in the largest series of patients suffering from Ras/MAPK pathway syndromes analyzed to date (n = 45), most of them classified as NS patients (n = 42). METHODS/PRINCIPAL FINDINGS: The results indicate that the observed mtDNA lineages were mostly of European ancestry, reproducing in a nutshell the expected haplogroup (hg) patterns of a typical Iberian dataset (including hgs H, T, J, and U). Three new branches of the mtDNA phylogeny (H1j1, U5b1e, and L2a5) are described for the first time, but none of these are likely to be related to NS or Ras/MAPK pathway syndromes when observed under an evolutionary perspective. Patterns of variation in tRNA and protein genes, as well as redundant, private and heteroplasmic variants, in the mtDNA genomes of patients were as expected when compared with the patterns inferred from a worldwide mtDNA phylogeny based on more than 8700 entire genomes. Moreover, most of the mtDNA variants found in patients had already been reported in healthy individuals and constitute common polymorphisms in human population groups. CONCLUSIONS/SIGNIFICANCE: As a whole, the observed mtDNA genome variation in the NS patients was difficult to reconcile with previous findings that indicated a pathogenic role of mtDNA variants in NS

Malignant Tumors of the Central Nervous System

Malignant tumors of the central nervous system in adults comprise a heterogeneous group of malignancies, the largest subgroups comprising astrocytomas, ependymomas, and oligodendrogliomas. Glioblastomas are the most common tumor type, and they have dismal prognosis. Due to differences in cell type of origin, as well as pathogenesis, it is plausible that their etiology also differs between tumor types. The etiology of malignant CNS tumors is largely unknown and no occupational risk factors have been definitively identified. High doses of ionizing radiation increase the risk, but in occupational settings the dose levels appear too small to result in discernible excesses. Several studies have assessed possible effect of extremely low frequency and radiofrequency electromagnetic fields, but the results are inconsistent. Increased brain tumor risk has been reported in agricultural workers, but no specific exposure has been linked to them. Pesticides have been analyzed in several studies without showing a clear increase in risk.acceptedVersionPeer reviewe

Generation of silicic melts in the early Izu-Bonin Arc recorded by detrital zircons in proximal arc volcaniclastic rocks from the Philippine Sea

A 1.2 km thick Paleogene volcaniclastic section at International Ocean Discovery Program Site 351-U1438 preserves the deep-marine, proximal record of Izu-Bonin oceanic arc initiation, and volcano evolution along the Kyushu-Palau Ridge (KPR). Pb/U ages and trace element compositions of zircons recovered from volcaniclastic sandstones preserve a remarkable temporal record of juvenile island arc evolution. Pb/U ages ranging from 43 to 27 Ma are compatible with provenance in one or more active arc edifices of the northern KPR. The abundances of selected trace elements with high concentrations provide insight into the genesis of U1438 detrital zircon host melts, and represent useful indicators of both short and long-term variations in melt compositions in arc settings. The Site U1438 zircons span the compositional range between zircons from mid-ocean ridge gabbros and zircons from relatively enriched continental arcs, as predicted for melts in a primitive oceanic arc setting derived from a highly depleted mantle source. Melt zircon saturation temperatures and Ti-in-zircon thermometry suggest a provenance in relatively cool and silicic melts that evolved toward more Th and U-rich compositions with time. Th, U, and light rare earth element enrichments beginning about 35 Ma are consistent with detrital zircons recording development of regional arc asymmetry and selective trace element-enriched rear arc silicic melts as the juvenile Izu-Bonin arc evolved