Seq-ing Higher Ground: Functional Investigation of Adaptive Variation Associated With High-Altitude Adaptation

Frontiers in Genetics
James E HallKeolu Fox

Abstract

Human populations at high altitude exhibit both unique physiological responses and strong genetic signatures of selection thought to compensate for the decreased availability of oxygen in each breath of air. With the increased availability of genomic information from Tibetans, Andeans, and Ethiopians, much progress has been made to elucidate genetic adaptations to chronic hypoxia that have occurred throughout hundreds of generations in these populations. In this perspectives piece, we discuss specific hypoxia-pathway variants that have been identified in high-altitude populations and methods for functional investigation, which may be used to determine the underlying causal factors that afford adaptation to high altitude.

References

Sep 21, 1979·Proceedings of the Royal Society of London. Series B, Containing Papers of a Biological Character·S J Gould, R C Lewontin
Dec 28, 1999·Annual Review of Cell and Developmental Biology·G L Semenza
Oct 4, 2003·Nature Reviews. Drug Discovery·Amato GiacciaRandall S Johnson
Oct 20, 2005·Science's STKE : Signal Transduction Knowledge Environment·Roland H WengerGieri Camenisch
Jun 20, 2006·Proceedings of the National Academy of Sciences of the United States of America·Michael A McDonoughChristopher J Schofield
Feb 14, 2009·American Journal of Human Biology : the Official Journal of the Human Biology Council·A Roberto Frisancho
Sep 12, 2009·Evolution; International Journal of Organic Evolution·Rasmus Nielsen
Nov 4, 2009·Nature Reviews. Genetics·Urban LendahlLorenz Poellinger
May 15, 2010·Science·Tatum S SimonsonRiLi Ge
Jun 11, 2010·Proceedings of the National Academy of Sciences of the United States of America·Cynthia M BeallYong Tang Zheng
Sep 3, 2010·Human Molecular Genetics·Santhosh Girirajan, Evan E Eichler
Oct 15, 2010·Nature Biotechnology·Bradley E BernsteinJames A Thomson
Nov 30, 2010·The Journal of Experimental Biology·Jay F StorzZachary A Cheviron
Aug 24, 2011·Journal of Visualized Experiments : JoVE·Danli Wu, Patricia Yotnda
Sep 10, 2011·Human Genetics·Luca PaganiChris Tyler-Smith
Jan 11, 2012·Proceedings of the National Academy of Sciences of the United States of America·Jayasri NanduriNanduri R Prabhakar
Jan 24, 2012·Genome Biology·Laura B ScheinfeldtSarah A Tishkoff
Sep 8, 2012·Nature·UNKNOWN ENCODE Project Consortium
Dec 14, 2012·PLoS Genetics·Gorka Alkorta-AranburuAnna Di Rienzo
May 15, 2013·Molecular Biology and Evolution·Emilia Huerta-SánchezRasmus Nielsen
Apr 9, 2014·The Journal of Biological Chemistry·Daisheng SongFrank S Lee
Jul 22, 2014·Nature·Emilia Huerta-SánchezRasmus Nielsen
Jul 30, 2014·Nature Reviews. Genetics·Jared L SterneckertHans R Schöler
Aug 19, 2014·Nature Genetics·Felipe R LorenzoJosef T Prchal
Sep 4, 2014·High Altitude Medicine & Biology·Carolyn J Brown, James L Rupert
Oct 17, 2014·Genes & Development·Abigail W Bigham, Frank S Lee
Jun 13, 2015·High Altitude Medicine & Biology·Tatum S Simonson
Sep 28, 2017·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Priti AzadGabriel G Haddad
Oct 14, 2017·Scientific Reports·Christina A EichstaedtToomas Kivisild
Nov 25, 2017·Methods in Molecular Biology·Yaojun TongSang Yup Lee
Jul 29, 2018·Nature Communications·Katrina G ClawUNKNOWN Summer internship for INdigenous peoples in Genomics (SING) Consortium
Nov 1, 2018·Trends in Molecular Medicine·Cleber A Trujillo, Alysson R Muotri
Dec 24, 2018·Nature Methods·Se-Jin YoonSergiu P Pașca
Dec 24, 2018·Epigenetics : Official Journal of the DNA Methylation Society·Ainash ChildebayevaAbigail W Bigham
Jan 18, 2019·Nature·Reiner A WimmerJosef M Penninger

❮ Previous
Next ❯

Citations

Aug 28, 2020·Frontiers in Genetics·Matthew E PamenterTatum S Simonson

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.