Human high-altitude adaptation: forward genetics meets the HIF pathway

AW Bigham, FS Lee - Genes & development, 2014 - genesdev.cshlp.org
Humans have adapted to the chronic hypoxia of high altitude in several locations, and
recent genome-wide studies have indicated a genetic basis. In some populations, genetic …

Genetics of human origin and evolution: high-altitude adaptations

AW Bigham - Current opinion in genetics & development, 2016 - Elsevier
High altitude, defined as elevations lying above 2500 m sea level, challenges human
survival and reproduction. This environment provides a natural experimental design wherein …

Ancestral origins and genetic history of Tibetan highlanders

D Lu, H Lou, K Yuan, X Wang, Y Wang, C Zhang… - The American Journal of …, 2016 - cell.com
The origin of Tibetans remains one of the most contentious puzzles in history, anthropology,
and genetics. Analyses of deeply sequenced (30×–60×) genomes of 38 Tibetan highlanders …

Ancient DNA and multimethod dating confirm the late arrival of anatomically modern humans in southern China

X Sun, S Wen, C Lu, B Zhou… - Proceedings of the …, 2021 - National Acad Sciences
The expansion of anatomically modern humans (AMHs) from Africa around 65,000 to 45,000
y ago (ca. 65 to 45 ka) led to the establishment of present-day non-African populations …

[HTML][HTML] Maternal genetic history of ancient Tibetans over the past 4000 years

G Zhang, C Cui, S Wangdue, H Lu, H Chen, L Xi… - Journal of Genetics and …, 2023 - Elsevier
The settlement of the Tibetan Plateau epitomizes human adaptation to a high-altitude
environment that poses great challenges to human activity. Here, we reconstruct a 4000 …

Mitochondrial DNA genomes reveal relaxed purifying selection during human population expansion after the last glacial maximum

HX Zheng, S Yan, M Zhang, Z Gu… - Molecular Biology and …, 2024 - academic.oup.com
Modern humans have experienced explosive population growth in the past thousand years.
We hypothesized that recent human populations have inhabited environments with …

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy

L Caporali, L Iommarini, C La Morgia, A Olivieri… - PLoS …, 2018 - journals.plos.org
We here report on the existence of Leber's hereditary optic neuropathy (LHON) associated
with peculiar combinations of individually non-pathogenic missense mitochondrial DNA …

Differentiated demographic histories and local adaptations between Sherpas and Tibetans

C Zhang, Y Lu, Q Feng, X Wang, H Lou, J Liu, Z Ning… - Genome biology, 2017 - Springer
Background The genetic relationships reported by recent studies between Sherpas and
Tibetans are controversial. To gain insights into the population history and the genetic basis …

Genomic history and forensic characteristics of Sherpa highlanders on the Tibetan Plateau inferred from high-resolution InDel panel and genome-wide SNPs

M Wang, W Du, R Tang, Y Liu, X Zou, D Yuan… - Forensic Science …, 2022 - Elsevier
Sherpa people, one of the high-altitude hypoxic adaptive populations, mainly reside in
Nepal and the southern Tibet Autonomous Region. The genetic origin and detailed …

Whole mitochondrial genome analysis of highland Tibetan ethnicity using massively parallel sequencing

M Wang, Z Wang, G He, S Wang, X Zou, J Liu… - Forensic Science …, 2020 - Elsevier
Mitochondrial DNA (mtDNA) is a key player in numerous multifaceted and intricate biological
processes and plays a pivotal role in dissecting the peopling of different populations, due to …