Erratum to: Genetic adaptation to extreme hypoxia: Study of high-altitude pulmonary edema in a three-generation Han Chinese family [Blood Cells Mol. Dis. 43:3 (2009) 221--225]

Lorenzo, V Felipe; Yang, Ying; Simonson, Tatum S.; Nussenzveig, Roberto; Jorde, L. B.; Prchal, Josef T.; Ge, Ri‐Li

doi:10.1016/j.bcmd.2009.12.008

Cited by 13 publications

(16 citation statements)

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“…Given the pleiotropic effects of the HIF-signaling cascade, however, it is unclear whether Hb concentration is the direct phenotypic target of natural selection or whether it simply represents a pleiotropic phenotypic effect of selection on another physiological trait that is regulated by the HIF-signaling cascade (Storz, 2010;Storz and Cheviron, 2011). Indeed, EGLN1 was also identified as an outlier in genome scans of high-altitude Andeans (Quechua and Amayra), who exhibit a vigorous erythropoietic response to hypobaric hypoxia (Bigham et al, 2009(Bigham et al, , 2010, and variation in both EGLN1 and EPAS1 has been implicated in susceptibility to high-altitude pulmonary edema, suggesting another potential phenotypic target of selection (Lorenzo et al, 2009;Aggarwal et al, 2010).…”

Section: Genomic Approaches To the Study Of High-altitude Adaptationmentioning

confidence: 99%

Genomic insights into adaptation to high-altitude environments

2011

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Elucidating the molecular genetic basis of adaptive traits is a central goal of evolutionary genetics. The cold, hypoxic conditions of high-altitude habitats impose severe metabolic demands on endothermic vertebrates, and understanding how high-altitude endotherms cope with the combined effects of hypoxia and cold can provide important insights into the process of adaptive evolution. The physiological responses to high-altitude stress have been the subject of over a century of research, and recent advances in genomic technologies have opened up exciting opportunities to explore the molecular genetic basis of adaptive physiological traits. Here, we review recent literature on the use of genomic approaches to study adaptation to high-altitude hypoxia in terrestrial vertebrates, and explore opportunities provided by newly developed technologies to address unanswered questions in high-altitude adaptation at a genomic scale.

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Section: Genomic Approaches To the Study Of High-altitude Adaptationmentioning

confidence: 99%

Genomic insights into adaptation to high-altitude environments

2011

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“…Upregulation of early-phase response genes including Dusp1 (dual specificity phosphatase), Cdkn1a high altitude cerebral edema (HACE) (brain swelling due to accumulation of cerebral fluid) (Gallagher and Hackett 2004). Genetic variability plays a major role in the development of high-altitude illness in addition to other factors such as gender, age, height of ascent and amount of exercise (Lorenzo et al 2009;Kobayashi et al 2013).…”

Section: Introductionmentioning

confidence: 99%

RNA-seq-based transcriptome profiling reveals differential gene expression in the lungs of Sprague–Dawley rats during early-phase acute hypobaric hypoxia

2015

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Individuals subjected to hypobaric hypoxia at high altitudes may exhibit differential physiological responses in terms of susceptibility and tolerance to the development of hypoxia-related disorders. We studied early-phase gene expression in the lungs of Sprague-Dawley rats exhibiting such differential physiological responses after exposure to acute hypobaric hypoxia for 1 h at a simulated altitude of 9144 m. RNA-seq transcriptome profiling of lung tissues revealed differential gene expression in tolerant and susceptible groups, subsequently validated by qRT-PCR for ten selected differentially expressed genes. The gene expression pattern indicated hypometabolism and negative regulation of vasoconstriction in all groups except susceptible rats, coupled with altered MAPK, p53 and JAK-STAT signaling. Upregulation of early-phase response genes including Dusp1 (dual specificity phosphatase), Cdkn1a (cyclin-dependent kinase inhibitor 1A), Txnip (thioredoxin-interacting protein), Rgs1 (regulator of G-protein signaling 1) and Rgs2 (regulator of G-protein signaling 2) in susceptible rats indicated a progression toward growth arrest and apoptosis. Enhanced expression of cell adhesion molecules, wound healing and repair bioprocesses was observed in tolerant males. Upregulated Kcnj15 (potassium inwardly rectifying channel subfamily j membrane 15) and Vsig4 (V-set and Ig domain containing 4) variants in tolerant females suggested adaptation to hypoxia possibly by fluid reabsorption to avoid edematous conditions and suppression of T cell proliferation to avoid acute lung inflammation. Our study might help in understanding the molecular-physiological mechanisms associated with progressive damage in the lung tissues of susceptible and tissue-protective measures in tolerant rats during acute hypobaric hypoxia.

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“…Some research laboratories are actively engaged in such identification process through candidate gene association studies [21,22,44,61,63,71,75,79,82]. Very little evidence is available for familial pattern of genetic transmission of susceptibility [39,47,55]. Highlander population has developed different adaptive strategies for coping with highaltitude environment [10,11].…”

Section: Genetic Basis For Altitude Illnessmentioning

confidence: 98%

High-Altitude Medicine: The Path from Genomic Insight to Clinical Applications

Sarkar

2014

Translational Research in Environmental and Occupational Stress

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Translation of research findings into clinical practice is an important aspect of medical progress. In context of high-altitude medical research, understanding the functions of all genes and their regulation under highaltitude environment is far from complete, and translation of genomics research findings into clinical practice is yet an unexplored domain. With advancement and accessibility to genomic and genomewide data sets, understanding of the role of genes and environment under high altitude will get accelerated which can potentially get converted to translational research.

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Erratum to: Genetic adaptation to extreme hypoxia: Study of high-altitude pulmonary edema in a three-generation Han Chinese family [Blood Cells Mol. Dis. 43:3 (2009) 221--225]

Cited by 13 publications

References 0 publications

Genomic insights into adaptation to high-altitude environments

Genomic insights into adaptation to high-altitude environments

RNA-seq-based transcriptome profiling reveals differential gene expression in the lungs of Sprague–Dawley rats during early-phase acute hypobaric hypoxia

High-Altitude Medicine: The Path from Genomic Insight to Clinical Applications

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