The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
- S. Mallick, Heng Li, D. Reich
- BiologyNature
- 7 July 2016
It is demonstrated that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.
Natural selection on EPAS1 (HIF2α) associated with low hemoglobin concentration in Tibetan highlanders
- C. Beall, G. Cavalleri, Yongjun Zheng
- BiologyProceedings of the National Academy of Sciences
- 7 June 2010
Evidence for genetic selection at the EPAS1 locus from the GWADS study is supported by the replicated studies associating function with the allelic variants.
Two routes to functional adaptation: Tibetan and Andean high-altitude natives
- C. Beall
- BiologyProceedings of the National Academy of Sciences
- 15 May 2007
Evidence is presented that Tibetan and Andean high-altitude natives have adapted differently, as indicated by large quantitative differences in numerous physiological traits comprising the oxygen delivery process, suggesting the hypothesis that evolutionary processes have tinkered differently on the two founding populations and their descendents.
The global distribution of the Duffy blood group
- R. Howes, Anand P. Patil, S. Hay
- MedicineNature Communications
- 1 April 2011
An extensive geo-database of surveys is collated, forming the evidence-base for a multi-locus Bayesian geostatistical model to generate global frequency maps of the common Duffy alleles to refine the global cartography of thecommon Duffy variants.
Andean, Tibetan, and Ethiopian patterns of adaptation to high-altitude hypoxia.
- C. Beall
- BiologyIntegrative and Comparative Biology
- 6 January 2006
Evidence for higher hemoglobin concentration and percent of oxygen saturation of hemoglobin among Andean highlanders as compared with Tibetans at the same altitude and evidence that Ethiopian highlanders do not differ from sea-level in these two traits are presented.
The Genetic Architecture of Adaptations to High Altitude in Ethiopia
- G. Alkorta-Aranburu, C. Beall, D. Witonsky, A. Gebremedhin, J. Pritchard, A. Di Rienzo
- BiologyPLoS Genetics
- 13 November 2012
Genetic analysis to two Ethiopian ethnic groups found that variants associated with hemoglobin variation among Tibetans or other variants at the same loci do not influence the trait in Ethiopians, but a significant excess of allele frequency divergence was consistently detected for genes involved in cell cycle control and DNA damage and repair, thus pointing to new pathways for high altitude adaptations.
Hemoglobin concentration of high-altitude Tibetans and Bolivian Aymara.
- C. Beall, G. Brittenham, C. Gonzales
- Environmental ScienceAmerican Journal of Physical Anthropology
- 1 July 1998
The present study tested the null hypothesis of no difference in mean hemoglobin concentration of Tibetan and Aymara native residents at 3,800-4,065 meters by using healthy samples that were screened for iron deficiency, abnormal hemoglobins, and thalassemias, recruited and assessed using the same techniques.
Ventilation and hypoxic ventilatory response of Tibetan and Aymara high altitude natives.
- C. Beall, K. Strohl, C. Gonzales
- Environmental ScienceAmerican Journal of Physical Anthropology
- 1 December 1997
Within populations, greater severity of hypoxia was associated with slightly higher resting ventilation among Tibetans and lower resting ventilation and HVR among Aymara women, although the associations accounted for just 2-7% of the variation.
Global diversity, population stratification, and selection of human copy-number variation
- P. Sudmant, S. Mallick, E. Eichler
- BiologyScience
- 11 September 2015
The selective constraints of deletions versus duplications were compared to understand population stratification in the context of the ancestral human genome and to assess differences in CNV load between African and non-African populations.
Admixture facilitates genetic adaptations to high altitude in Tibet.
- Choongwon Jeong, G. Alkorta-Aranburu, A. Di Rienzo
- BiologyNature Communications
- 10 February 2014
Genotype data for the Nepalese Sherpa is analysed, and it is found that Tibetans are a mixture of ancestral populations related to the Sherpa and Han Chinese, indicating that migrants from low altitude acquired adaptive alleles from the highlanders.
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