Human Genetic Adaptation to High Altitude: Evidence from the Andes

The peopling of South America and the trans-Andean gene flow of the first settlers

(2018) Alberto Gómez-Carballa et al.   GENOME RESEARCH

Evolutionary genomic dynamics of Peruvians before, during, and after the Inca Empire

(2018) Daniel N. Harris et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Selection scan reveals three new loci related to high altitude adaptation in Native Andeans

(2018) Vanessa C. Jacovas et al.   Scientific Reports

Epigenomics and human adaptation to high altitude

(2017) Colleen G. Julian   JOURNAL OF APPLIED PHYSIOLOGY

Measuring high-altitude adaptation

(2017) Lorna G. Moore   JOURNAL OF APPLIED PHYSIOLOGY

Metabolic basis to Sherpa altitude adaptation

(2017) James A. Horscroft et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human genetic adaptation to high altitudes: Current status and future prospects

(2017) Lorna G. Moore   QUATERNARY INTERNATIONAL

Hypoxemia, oxygen content, and the regulation of cerebral blood flow

(2016) Ryan L. Hoiland et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

Sleep-Disordered Breathing and Vascular Function in Patients With Chronic Mountain Sickness and Healthy High-Altitude Dwellers

(2016) Emrush Rexhaj et al.   CHEST

Pregnancy at high altitude in the Andes leads to increased total vessel density in healthy newborns

(2016) Norina N. Gassmann et al.   JOURNAL OF APPLIED PHYSIOLOGY

Pulmonary artery pressure and arterial oxygen saturation in people living at high or low altitude: systematic review and meta-analysis

(2016) Rodrigo Soria et al.   JOURNAL OF APPLIED PHYSIOLOGY

Hemoglobin–oxygen affinity in high-altitude vertebrates: is there evidence for an adaptive trend?

(2016) Jay F. Storz   JOURNAL OF EXPERIMENTAL BIOLOGY

The effect of α1 -adrenergic blockade on post-exercise brachial artery flow-mediated dilatation at sea level and high altitude

(2016) Michael M. Tymko et al.   JOURNAL OF PHYSIOLOGY-LONDON

Epigenetic inheritance of acquired traits through sperm RNAs and sperm RNA modifications

(2016) Qi Chen et al.   NATURE REVIEWS GENETICS

Adaptation to Life in the High Andes: Nocturnal Oxyhemoglobin Saturation in Early Development

(2016) Catherine Mary Hill et al.   SLEEP

Effects of race and sex on cerebral hemodynamics, oxygen delivery and blood flow distribution in response to high altitude

(2016) Jie Liu et al.   Scientific Reports

Adaptation to Life in the High Andes: Nocturnal Oxyhemoglobin Saturation in Early Development

(2016) Catherine Mary Hill et al.   SLEEP

Surname-Inferred andean ancestry is associated with child stature and limb lengths at high altitude in Peru, but not at sea level

(2015) Emma Pomeroy et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

Perinatal hypoxia increases susceptibility to high-altitude polycythemia and attendant pulmonary vascular dysfunction

(2015) Colleen Glyde Julian et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Unique DNA Methylation Patterns in Offspring of Hypertensive Pregnancy

(2015) Colleen G. Julian et al.   CTS-Clinical and Translational Science

Glucose Homeostasis During Short-term and Prolonged Exposure to High Altitudes

(2015) Orison O. Woolcott et al.   ENDOCRINE REVIEWS

Developmental Effects Determine Submaximal Arterial Oxygen Saturation in Peruvian Quechua

(2015) Melisa Kiyamu et al.   HIGH ALTITUDE MEDICINE & BIOLOGY

New genetic and physiological factors for excessive erythrocytosis and Chronic Mountain Sickness

(2015) Francisco C. Villafuerte   JOURNAL OF APPLIED PHYSIOLOGY

TALE-mediated epigenetic suppression of CDKN2A increases replication in human fibroblasts

(2015) Diana L. Bernstein et al.   JOURNAL OF CLINICAL INVESTIGATION

A Novel Candidate Region for Genetic Adaptation to High Altitude in Andean Populations

(2015) Guido Valverde et al.   PLoS One

Neonatal Oxygenation, Pulmonary Hypertension, and Evolutionary Adaptation to High Altitude (2013 Grover Conference series)

(2015) Susan Niermeyer et al.   Pulmonary Circulation

Genetic Variations in the TP53 Pathway in Native Americans Strongly Suggest Adaptation to the High Altitudes of the Andes

(2015) Vanessa Cristina Jacovas et al.   PLoS One

The epigenetic side of human adaptation: hypotheses, evidences and theories

(2014) Cristina Giuliani et al.   ANNALS OF HUMAN BIOLOGY

Hypoxia and Environmental Epigenetics

(2014) Carolyn J. Brown et al.   HIGH ALTITUDE MEDICINE & BIOLOGY

Genetic Variation in SENP1 and ANP32D as Predictors of Chronic Mountain Sickness

(2014) Amy M. Cole et al.   HIGH ALTITUDE MEDICINE & BIOLOGY

Linking the genetic architecture of cytosine modifications with human complex traits

(2014) Xu Zhang et al.   HUMAN MOLECULAR GENETICS

Higher Estrogen Levels During Pregnancy in Andean Than European Residents of High Altitude Suggest Differences in Aromatase Activity

(2014) Shelton M. Charles et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

DNA methylation dynamics of the human preimplantation embryo

(2014) Zachary D. Smith et al.   NATURE

Pre-eclampsia part 2: prediction, prevention and management

(2014) Tinnakorn Chaiworapongsa et al.   Nature Reviews Nephrology

Maternal PRKAA1 and EDNRA genotypes are associated with birth weight, and PRKAA1 with uterine artery diameter and metabolic homeostasis at high altitude

(2014) Abigail W. Bigham et al.   PHYSIOLOGICAL GENOMICS

Autonomic Cardiovascular Responses in Acclimatized Lowlanders on Prolonged Stay at High Altitude: A Longitudinal Follow Up Study

(2014) Priyanka Dhar et al.   PLoS One

The Andean Adaptive Toolkit to Counteract High Altitude Maladaptation: Genome-Wide and Phenotypic Analysis of the Collas

(2014) Christina A. Eichstaedt et al.   PLoS One

DNMT3a epigenetic program regulates the HIF-2  oxygen-sensing pathway and the cellular response to hypoxia

(2014) G. Lachance et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Paleoindian settlement of the high-altitude Peruvian Andes

(2014) Kurt Rademaker et al.   SCIENCE

Andean and Tibetan patterns of adaptation to high altitude

(2013) Abigail W. Bigham et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

Whole-Genome Sequencing Uncovers the Genetic Basis of Chronic Mountain Sickness in Andean Highlanders

(2013) Dan Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Oxidative-Nitrosative Stress and Systemic Vascular Function in Highlanders With and Without Exaggerated Hypoxemia

(2013) Damian M. Bailey et al.   CHEST

SNPs located at CpG sites modulate genome-epigenome interaction

(2013) Degui Zhi et al.   Epigenetics

Genome-Wide Variation of Cytosine Modifications Between European and African Populations and the Implications for Complex Traits

(2013) Erika L. Moen et al.   GENETICS

Mechanisms and Drug Therapy of Pulmonary Hypertension at High Altitude

(2013) Urs Scherrer et al.   HIGH ALTITUDE MEDICINE & BIOLOGY

Targeted DNA demethylation and activation of endogenous genes using programmable TALE-TET1 fusion proteins

(2013) Morgan L Maeder et al.   NATURE BIOTECHNOLOGY

Graduated effects of high-altitude hypoxia and highland ancestry on birth size

(2013) Rudy Soria et al.   PEDIATRIC RESEARCH

Sleep-disordered breathing and oxidative stress in preclinical chronic mountain sickness (excessive erythrocytosis)

(2013) Colleen Glyde Julian et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Developmental and genetic components explain enhanced pulmonary volumes of female peruvian quechua

(2012) Melisa Kiyamu et al.   AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY

Evidence of endoplasmic reticulum stress and protein synthesis inhibition in the placenta of non-native women at high altitude

(2012) Hong Wa Yung et al.   FASEB JOURNAL

Potential role for elevated maternal enzymatic antioxidant status in Andean protection against altitude-associated SGA

(2012) Colleen Glyde Julian et al.   Journal of Maternal-Fetal & Neonatal Medicine

Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia

(2012) Marta Kulis et al.   NATURE GENETICS

Functions of DNA methylation: islands, start sites, gene bodies and beyond

(2012) Peter A. Jones   NATURE REVIEWS GENETICS

The Genetic Architecture of Adaptations to High Altitude in Ethiopia

(2012) Gorka Alkorta-Aranburu et al.   PLoS Genetics

Lowland origin women raised at high altitude are not protected against lower uteroplacental O2 delivery during pregnancy or reduced birth weight

(2011) Colleen G. Julian et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

Fetal programming of pulmonary vascular dysfunction in mice: role of epigenetic mechanisms

(2011) Emrush Rexhaj et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

High-end arteriolar resistance limits uterine artery blood flow and restricts fetal growth in preeclampsia and gestational hypertension at high altitude

(2011) Vaughn A. Browne et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

Systemic Vascular Dysfunction in Patients With Chronic Mountain Sickness

(2011) Stefano F. Rimoldi et al.   CHEST

Oxygen Sensing, Homeostasis, and Disease

(2011) Gregg L. Semenza   NEW ENGLAND JOURNAL OF MEDICINE

DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines

(2011) Jordana T Bell et al.   GENOME BIOLOGY

DNA methylation and epigenetic control of cellular differentiation

(2010) David A. Khavari et al.   CELL CYCLE

Pulmonary and Systemic Vascular Dysfunction in Young Offspring of Mothers With Preeclampsia

(2010) Pierre-Yves Jayet et al.   CIRCULATION

Chronic Prenatal Hypoxia Induces Epigenetic Programming of PKCε Gene Repression in Rat Hearts

(2010) Andrew J. Patterson et al.   CIRCULATION RESEARCH

Brain Blood Flow in Andean and Himalayan High-Altitude Populations: Evidence of Different Traits for the Same Environmental Constraint

(2010) Gerard FA Jansen et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Hypoxia-Inducible Factors and the Response to Hypoxic Stress

(2010) Amar J. Majmundar et al.   MOLECULAR CELL

Hypoglycemia and the Origin of Hypoxia-Induced Reduction in Human Fetal Growth

(2010) Stacy Zamudio et al.   PLoS One

Natural selection on EPAS1 (HIF2 ) associated with low hemoglobin concentration in Tibetan highlanders

(2010) C. M. Beall et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Do Anti-angiogenic or Angiogenic Factors Contribute to the Protection of Birth Weight at High Altitude Afforded by Andean Ancestry?

(2010) R. Daniela Dávila et al.   Reproductive Sciences

Molecular Signals of Epigenetic States

(2010) Roberto Bonasio et al.   SCIENCE

Orphan CpG Islands Identify Numerous Conserved Promoters in the Mammalian Genome

(2010) Robert S. Illingworth et al.   PLoS Genetics

Abundant Quantitative Trait Loci Exist for DNA Methylation and Gene Expression in Human Brain

(2010) J. Raphael Gibbs et al.   PLoS Genetics

Identifying Signatures of Natural Selection in Tibetan and Andean Populations Using Dense Genome Scan Data

(2010) Abigail Bigham et al.   PLoS Genetics

Developmental adaptation: Where we go from here

(2009) A. Roberto Frisancho   AMERICAN JOURNAL OF HUMAN BIOLOGY

Augmented uterine artery blood flow and oxygen delivery protect Andeans from altitude-associated reductions in fetal growth

(2009) Colleen Glyde Julian et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

Placental mTOR links maternal nutrient availability to fetal growth

(2009) Sara Roos et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Generation of an epigenetic signature by chronic hypoxia in prostate cells

(2009) J. A. Watson et al.   HUMAN MOLECULAR GENETICS

Hypertensive Pregnancy Disorders and Subsequent Cardiovascular Morbidity and Type 2 Diabetes Mellitus in the Mother

(2009) Jacob A. Lykke et al.   HYPERTENSION

Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer

(2009) M P Hitchins et al.   JOURNAL OF MEDICAL GENETICS

Prenatal Hypoxia Causes a Sex-Dependent Increase in Heart Susceptibility to Ischemia and Reperfusion Injury in Adult Male Offspring: Role of Protein Kinase C 

(2009) Q. Xue et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Differential methylation of tissue- and cancer-specific CpG island shores distinguishes human induced pluripotent stem cells, embryonic stem cells and fibroblasts

(2009) Akiko Doi et al.   NATURE GENETICS

Evidence that parent-of-origin affects birth-weight reductions at high altitude

(2008) Adam Bennett et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

Evidence of Placental Translation Inhibition and Endoplasmic Reticulum Stress in the Etiology of Human Intrauterine Growth Restriction

(2008) Hong-wa Yung et al.   AMERICAN JOURNAL OF PATHOLOGY

Lower uterine artery blood flow and higher endothelin relative to nitric oxide metabolite levels are associated with reductions in birth weight at high altitude

(2008) Colleen Glyde Julian et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

Do high-altitude natives have enhanced exercise performance at altitude?

(2008) Tom D. Brutsaert   Applied Physiology Nutrition and Metabolism

Hypoxia upregulates the histone demethylase JMJD1A via HIF-1

(2008) Sven Wellmann et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Angiotensin-Converting Enzyme Genotype and Arterial Oxygen Saturation at High Altitude in Peruvian Quechua

(2008) Abigail W. Bigham et al.   HIGH ALTITUDE MEDICINE & BIOLOGY

Regulation of adult erythropoiesis by prolyl hydroxylase domain proteins

(2007) K. Takeda et al.   BLOOD

Somatic inactivation of the PHD2 prolyl hydroxylase causes polycythemia and congestive heart failure

(2007) Y. A. Minamishima et al.   BLOOD

Cerebrovascular Responses to Hypoxia and Hypocapnia in Ethiopian High Altitude Dwellers

(2007) Victoria E. Claydon et al.   STROKE