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 …

Microtia: epidemiology and genetics

DV Luquetti, CL Heike, AV Hing… - American Journal of …, 2012 - Wiley Online Library
Microtia is a congenital anomaly of the ear that ranges in severity from mild structural
abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as …

High-altitude adaptation: mechanistic insights from integrated genomics and physiology

JF Storz - Molecular biology and evolution, 2021 - academic.oup.com
Population genomic analyses of high-altitude humans and other vertebrates have identified
numerous candidate genes for hypoxia adaptation, and the physiological pathways …

Measuring high-altitude adaptation

LG Moore - Journal of applied physiology, 2017 - journals.physiology.org
High altitudes (> 8,000 ft or 2,500 m) provide an experiment of nature for measuring
adaptation and the physiological processes involved. Studies conducted over the past~ 25 …

Gestational hypoxia and developmental plasticity

CA Ducsay, R Goyal, WJ Pearce… - Physiological …, 2018 - journals.physiology.org
Hypoxia is one of the most common and severe challenges to the maintenance of
homeostasis. Oxygen sensing is a property of all tissues, and the response to hypoxia is …

Human genetic adaptation to high altitude: evidence from the Andes

CG Julian, LG Moore - Genes, 2019 - mdpi.com
Whether Andean populations are genetically adapted to high altitudes has long been of
interest. Initial studies focused on physiological changes in the O2 transport system that …

Humans at high altitude: hypoxia and fetal growth

LG Moore, SM Charles, CG Julian - Respiratory physiology & neurobiology, 2011 - Elsevier
High-altitude studies offer insight into the evolutionary processes and physiological
mechanisms affecting the early phases of the human lifespan. Chronic hypoxia slows fetal …

Uterine artery blood flow, fetal hypoxia and fetal growth

VA Browne, CG Julian… - … of the Royal …, 2015 - royalsocietypublishing.org
Evolutionary trade-offs required for bipedalism and brain expansion influence the pregnancy
rise in uterine artery (UtA) blood flow and, in turn, reproductive success. We consider the …

Polygenic adaptation leads to a higher reproductive fitness of native Tibetans at high altitude

Y He, Y Guo, W Zheng, T Yue, H Zhang, B Wang… - Current Biology, 2023 - cell.com
The adaptation of Tibetans to high-altitude environments has been studied extensively.
However, the direct assessment of evolutionary adaptation, ie, the reproductive fitness of …

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 …