We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A Phenotypic Perspective on Mammalian Oxygen Sensor Candidates.
- Authors
BAYSAL, BORA E.
- Abstract
Chronic hypoxic stimulation in mammals can induce several phenotypic changes, such as polycythemia, pulmonary vascular changes, pulmonary hypertension, and carotid body (CB) enlargement. These phenotypic alterations provide a tool to test whether an oxygen sensor candidate is involved in an organism's response to environmental hypoxia. Here I evaluate the phenotypic evidence for several commonly considered oxygen sensor candidates. Germline mutations in NADPH oxidase, mitochondrial complexes I, III, IV, and heme oxygenase 2 genes cause different phenotypic consequences, suggesting distinct physiological roles rather than oxygen sensing. Germline mutations in VHL and HIF1 prolyl hydroxylase 2 genes cause polycythemia consistent with their role in oxygen homeostasis. However, it is unclear whether environmental variations affecting oxygen availability modify their phenotype, as would be expected from a defect in an oxygen sensor. Succinate dehydrogenase (SDH); mitochondrial complex II) germline mutations cause CB paragangliomas and there is evidence that the severity and the population genetics of paragangliomas may be influenced by altitude. Thus, from a phenotypic perspective, succinate dehydrogenase (SDH) appears to be a well-supported oxygen sensor candidate. It is suggested that a universal oxygen sensor candidate must be supported by evidence from multiple layers of biological complexity.
- Subjects
PHEOCHROMOCYTOMA; OXYGEN; GENETICS; HYPERTENSION; GENES; POPULATION
- Publication
Annals of the New York Academy of Sciences, 2006, Vol 1073, Issue 1, p221
- ISSN
0077-8923
- Publication type
Article
- DOI
10.1196/annals.1353.024