| 1. |
- Allentoft, Morten E., et al.
(författare)
-
100 ancient genomes show repeated population turnovers in Neolithic Denmark
- 2024
-
Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 625, s. 329-337
-
Tidskriftsartikel (refereegranskat)abstract
- Major migration events in Holocene Eurasia have been characterized genetically at broad regional scales1–4. However, insights into the population dynamics in the contact zones are hampered by a lack of ancient genomic data sampled at high spatiotemporal resolution5–7. Here, to address this, we analysed shotgun-sequenced genomes from 100 skeletons spanning 7,300 years of the Mesolithic period, Neolithic period and Early Bronze Age in Denmark and integrated these with proxies for diet (13C and 15N content), mobility (87Sr/86Sr ratio) and vegetation cover (pollen). We observe that Danish Mesolithic individuals of the Maglemose, Kongemose and Ertebølle cultures form a distinct genetic cluster related to other Western European hunter-gatherers. Despite shifts in material culture they displayed genetic homogeneity from around 10,500 to 5,900 calibrated years before present, when Neolithic farmers with Anatolian-derived ancestry arrived. Although the Neolithic transition was delayed by more than a millennium relative to Central Europe, it was very abrupt and resulted in a population turnover with limited genetic contribution from local hunter-gatherers. The succeeding Neolithic population, associated with the Funnel Beaker culture, persisted for only about 1,000 years before immigrants with eastern Steppe-derived ancestry arrived. This second and equally rapid population replacement gave rise to the Single Grave culture with an ancestry profile more similar to present-day Danes. In our multiproxy dataset, these major demographic events are manifested as parallel shifts in genotype, phenotype, diet and land use.
|
|
| 2. |
- Allentoft, Morten E., et al.
(författare)
-
Population genomics of post-glacial western Eurasia
- 2024
-
Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 625:7994, s. 301-311
-
Tidskriftsartikel (refereegranskat)abstract
- Western Eurasia witnessed several large-scale human migrations during the Holocene1–5. Here, to investigate the cross-continental effects of these migrations, we shotgun-sequenced 317 genomes—mainly from the Mesolithic and Neolithic periods—from across northern and western Eurasia. These were imputed alongside published data to obtain diploid genotypes from more than 1,600 ancient humans. Our analyses revealed a ‘great divide’ genomic boundary extending from the Black Sea to the Baltic. Mesolithic hunter-gatherers were highly genetically differentiated east and west of this zone, and the effect of the neolithization was equally disparate. Large-scale ancestry shifts occurred in the west as farming was introduced, including near-total replacement of hunter-gatherers in many areas, whereas no substantial ancestry shifts happened east of the zone during the same period. Similarly, relatedness decreased in the west from the Neolithic transition onwards, whereas, east of the Urals, relatedness remained high until around 4,000 bp, consistent with the persistence of localized groups of hunter-gatherers. The boundary dissolved when Yamnaya-related ancestry spread across western Eurasia around 5,000 bp, resulting in a second major turnover that reached most parts of Europe within a 1,000-year span. The genetic origin and fate of the Yamnaya have remained elusive, but we show that hunter-gatherers from the Middle Don region contributed ancestry to them. Yamnaya groups later admixed with individuals associated with the Globular Amphora culture before expanding into Europe. Similar turnovers occurred in western Siberia, where we report new genomic data from a ‘Neolithic steppe’ cline spanning the Siberian forest steppe to Lake Baikal. These prehistoric migrations had profound and lasting effects on the genetic diversity of Eurasian populations.
|
|
| 3. |
- Book, Robert T., et al.
(författare)
-
“All they have seen is a model for failure:” Stakeholder’s perspectives on athletic talent development in American underserved communities
- 2022
-
Ingår i: Journal of Applied Sport Psychology. - Philadelphia : Routledge. - 1041-3200 .- 1533-1571. ; 34:6, s. 1037-1057
-
Tidskriftsartikel (refereegranskat)abstract
- This study explores the primary challenges faced and strategies implemented in underserved athletic talent development environments (UATDEs) in the United States and examines how developing within such environments impacts athletes once they reach the college and professional levels of sports. Thirteen stakeholders (M = 10, F = 3), who had significant experience working with professional and youth athletes from underserved communities, participated in the study. Unstructured interviews lasting slightly over an hour (M = 74 min) were analyzed using the principles of reflexive thematic analysis and the process uncovered two categories: shared features of school-based UATDEs in the United States and the ripple effects of trauma which were used to structure the findings. Within these two categories, primary themes were presented relating to the challenges observed and strategies implemented to overcome these obstacles in UATDEs as well as how developing within a UATDE can influence an athlete upon leaving the environment. The study found that stakeholders (i.e., administrators, coaches, etc.) who work within UATDEs must be aware of the inherent challenges that the environment creates and how to best support the athletes who require increased psychosocial developmental attention. Further, the same stakeholders also need to be supported in their work. Finally, when athletes from UATDEs leave the environment, stress-inducing traumatic events of their formative years may stay with them requiring that stakeholders at the university and professional levels provide support to those that need it as talent can suffer from trauma. Lay summary: This study explored the perceptions of stakeholders who work with athletes in or coming from American underserved communities. The consensus is that significant challenges exist for coaches working in such environments and athletes developing in these circumstances will likely carry emotional trauma with them during their life and athletic careers.Implications for practice Applied practitioners working in UATDEs must prioritize the psychosocial development of their athletes as much, if not more, than athletic development. Organizations, such as AASP and ISSP must educate (e.g., through conferences, seminars, webinars, etc.) stakeholders and coaches working in UATDEs of the potential challenges faced and resources required to excel in such environments. Applied practitioners in university and professional sport must understand that athletes coming from UATDEs will need additional and specialized support focused upon, for example, the transition to a new environment or managing the ripple effects of trauma. © 2021 Association for Applied Sport Psychology.
|
|
| 4. |
- Højfeldt, Sofie G., et al.
(författare)
-
Genetic predisposition to PEG-asparaginase hypersensitivity in children treated according to NOPHO ALL2008
- 2019
-
Ingår i: British Journal of Haematology. - : Wiley. - 0007-1048 .- 1365-2141. ; 184:3, s. 405-417
-
Tidskriftsartikel (refereegranskat)abstract
- Asparaginase is essential in childhood acute lymphoblastic leukaemia (ALL) treatment, however hypersensitivity reactions to pegylated asparaginase (PEG-asparaginase) hampers anti-neoplastic efficacy. Patients with PEG-asparaginase hypersensitivity have been shown to possess zero asparaginase enzyme activity. Using this measurement to define the phenotype, we investigated genetic predisposition to PEG-asparaginase hypersensitivity in a genome-wide association study (GWAS). From July 2008 to March 2016, 1494 children were treated on the Nordic Society of Paediatric Haematology and Oncology ALL2008 protocol. Cases were defined by clinical hypersensitivity and no enzyme activity, controls had enzyme activity ≥ 100 iu/l and no hypersensitivity symptoms. PEG-asparaginase hypersensitivity was reported in 13·8% (206/1494) of patients. Fifty-nine cases and 772 controls fulfilled GWAS inclusion criteria. The CNOT3 variant rs73062673 on 19q13.42, was associated with PEG-asparaginase allergy (P = 4·68 × 10-8 ). We further identified two signals on chromosome 6 in relation to HLA-DQA1 (P = 9·37 × 10-6 ) and TAP2 (P = 1·59 × 10-5 ). This study associated variants in CNOT3 and in the human leucocyte antigen (HLA) region with PEG-asparaginase hypersensitivity, suggesting that not only genetic variations in the HLA region, but also regulation of these genes are of importance in the biology of this toxicity. Furthermore, our study emphasizes the importance of using asparaginase enzyme activity measurements to identify PEG-asparaginase hypersensitivity.
|
|
