5 research outputs found
Analysis of the human Y-chromosome haplogroup Q characterizes ancient population movements in Eurasia and the Americas
Background: Recent genome studies of modern and ancient samples have proposed that Native Americans derive from a subset of the Eurasian gene pool carried to America by an ancestral Beringian population, from which two well-differentiated components originated and subsequently mixed in different proportion during their spread in the Americas. To assess the timing, places of origin and extent of admixture between these components, we performed an analysis of the Y-chromosome haplogroup Q, which is the only Pan-American haplogroup and accounts for virtually all Native American Y chromosomes in Mesoamerica and South America. Results: Our analyses of 1.5 Mb of 152 Y chromosomes, 34 re-sequenced in this work, support a "coastal and inland routes scenario" for the first entrance of modern humans in North America. We show a major phase of male population growth in the Americas after 15 thousand years ago (kya), followed by a period of constant population size from 8 to 3 kya, after which a secondary sign of growth was registered. The estimated dates of the first expansion in Mesoamerica and the Isthmo-Colombian Area, mainly revealed by haplogroup Q-Z780, suggest an entrance in South America prior to 15 kya. During the global constant population size phase, local South American hints of growth were registered by different Q-M848 sub-clades. These expansion events, which started during the Holocene with the improvement of climatic conditions, can be ascribed to multiple cultural changes rather than a steady population growth and a single cohesive culture diffusion as it occurred in Europe. Conclusions: We established and dated a detailed haplogroup Q phylogeny that provides new insights into the geographic distribution of its Eurasian and American branches in modern and ancient samples
Human Biomonitoring Data in Health Risk Assessments Published in Peer-Reviewed Journals between 2016 and 2021: Confronting Reality after a Preliminary Review
Human biomonitoring (HBM) is a rapidly developing field that is emphasized as an important approach for the assessment of health risks. However, its value for health risk assessment (HRA) remains to be clarified. We performed a review of publications concerned with applications of HBM in the assessment of health risks. The selection of publications for this review was limited by the search engines used (only PubMed and Scopus) and a timeframe of the last five years. The review focused on the clarity of 10 HRA elements, which influence the quality of HRA. We show that the usage of HBM data in HRA is limited and unclear. Primarily, the key HRA elements are not consistently applied or followed when using HBM in such assessments, and secondly, there are inconsistencies regarding the understanding of fundamental risk analysis principles and good practices in risk analysis. Our recommendations are as follows: (i) potential usage of HBM data in HRA should not be non-critically overestimated but rather limited and aligned to a specific value for exposure assessment or for the interpretation of health damage; (ii) improvements to HRA approaches, using HBM information or not, are needed and should strictly follow theoretical foundations of risk analysis
Ancient distinctive migration routes suggested by the current mitochondrial gene pool of Podolic cattle breeds in Italy
Evaluating the Impact of Sex-Biased Genetic Admixture in the Americas through the Analysis of Haplotype Data
This work was supported by the European Union through the European Regional Development Fund (Project No. 2014-2020.4.01.16-0030 to LO, LM, MM, FM; Project No. 2014-2020.4.01.16-0271 to RF; Project No. 2014-2020.4.01.16-0125 to RF; Project No. 2014-2020.4.01.16-0024 to LM, DM, LP; Project No. 2014-2020.4.01.15-0012 to MM; Project no. MOBEC008 to MM). This work was supported by the Estonian Research Council grant PUT (PRG243) to RF and MM and PUT (PRG1027) to KT. This research was supported by the European Union through Horizon 2020 research and innovation programme under grant no 810645 to MM and no 824110 to KT. AA and MRC received support from the Italian Ministry of Education, University and Research (MIUR) for Progetti PRIN2017 20174BTC4R and the Dipartimenti di Eccellenza Program (2018-2022).A general imbalance in the proportion of disembarked males and females in the Americas
has been documented during the Trans-Atlantic Slave Trade and the Colonial Era and, although less
prominent, more recently. This imbalance may have left a signature on the genomes of modern-day
populations characterised by high levels of admixture. The analysis of the uniparental systems
and the evaluation of continental proportion ratio of autosomal and X chromosomes revealed a
general sex imbalance towards males for European and females for African and Indigenous American
ancestries. However, the consistency and degree of this imbalance are variable, suggesting that other
factors, such as cultural and social practices, may have played a role in shaping it. Moreover, very
few investigations have evaluated the sex imbalance using haplotype data, containing more critical
information than genotypes. Here, we analysed genome-wide data for more than 5000 admixed
American individuals to assess the presence, direction and magnitude of sex-biased admixture in
the Americas. For this purpose, we applied two haplotype-based approaches, ELAI and NNLS, and
we compared them with a genotype-based method, ADMIXTURE. In doing so, besides a general
agreement between methods, we unravelled that the post-colonial admixture dynamics show higher
complexity than previously described.European Commission 2014-2020.4.01.16-0030
2014-2020.4.01.16-0271
2014-2020.4.01.16-0125
2014-2020.4.01.16-0024
2014-2020.4.01.15-0012MOBEC008Estonian Research Council grant PUT PRG243
PRG1027European Commission 810645
824110Ministry of Education, Universities and Research (MIUR) PRIN2017 20174BTC4
Whole mitogenomes reveal the history of Swamp Buffalo: initially shaped by glacial periods and eventually modelled by domestication
The newly sequenced mitochondrial genomes of 107 Asian swamp buffalo (Bubalus bubalis carabensis) allowed the reconstruction of the matrilineal divergence since ~900 Kya. Phylogenetic trees and Bayesian skyline plots suggest a role of the glacial periods in the demographic history of swamp buffalo. The ancestral swamp-buffalo mitogenome is dated ~232 ± 35 Kya. Two major macro-lineages diverged during the 2nd Pleistocene Glacial Period (~200–130 Kya), but most (~99%) of the current matrilines derive from only two ancestors (SA1′2 and SB) that lived around the Last Glacial Maximum (~26–19 Kya). During the late Holocene optimum (11–6 Kya) lineages differentiated further, and at least eight matrilines (SA1, SA2, SB1a, SB1b, SB2a, SB2b, SB3 and SB4) were domesticated around 7–3 Kya. Haplotype distributions support an initial domestication process in Southeast Asia, while subsequent captures of wild females probably introduced some additional rare lineages (SA3, SC, SD and SE). Dispersal of domestic buffaloes created local population bottlenecks and founder events that further differentiated haplogroup distributions. A lack of maternal gene flow between neighboring populations apparently maintained the strong phylogeography of the swamp buffalo matrilines, which is the more remarkable because of an almost complete absence of phenotypic differentiation