A phenotypic perspective on Mammalian oxygen sensor candidates.

A phenotypic perspective on Mammalian oxygen sensor candidates. Research Abstract Details 

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A phenotypic perspective on Mammalian oxygen sensor candidates. Abstract Text:

Bora E Baysal,

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.

A phenotypic perspective on Mammalian oxygen sensor candidates. Publishing Authors By Initials

BE Baysal,

For similar genetic phenomena: phenotype research abstracts see: genetic phenomena: phenotype research

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A phenotypic perspective on Mammalian oxygen sensor candidates. Journal Published:

PUBLICATION TYPE: Review

Journal: Annals of the New York Academy of Sciences

VOLUME: 1073

Page Numbers: 221-33

Journal Abbreviation: Ann. N. Y. Acad. Sci.

ISSN: 0077-8923

DAY: 3

MONTH: Aug

YEAR: 2006

A phenotypic perspective on Mammalian oxygen sensor candidates. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 7506858

A phenotypic perspective on Mammalian oxygen sensor candidates. Keywords Mesh Terms:

KEYWORDS: Phenotype

MESH TERMS: metabolism

Chemical & Substance for Abstract: A phenotypic perspective on Mammalian oxygen sensor candidates. Information

Substance Name: NADPH Oxidase

Registry Number: EC 1.6.3.1

Grant and Affiliation Information for A phenotypic perspective on Mammalian oxygen sensor candidates.

AFFILIATION: Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA. baysalb@mwri.magee.edu

Country: United States

AGENCY: United States NCI

GRANT: 1R01CA112364-01

ACRONYM: CA

MEDLINETA: Ann N Y Acad Sci

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