Both rare and common polymorphisms contribute functional variation at CHGA, a regulator of catecholamine physiology. Am J Hum Genet. 2004;74:197–207. CLINICAL PERSPECTIVE Endothelial dysfunction predisposes to vascular injury in association with hypertens
| Title: | Both rare and common polymorphisms contribute functional variation at CHGA, a regulator of catecholamine physiology. Am J Hum Genet. 2004;74:197–207. CLINICAL PERSPECTIVE Endothelial dysfunction predisposes to vascular injury in association with hypertens |
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| Authors: | Gen Wen; Sushil K. Mahata; Peter Cadman; Manjula Mahata; Sajalendu Ghosh; Payam Mahboubi; Nicholas J. Schork; Daniel T. O’connor; Bruce A. Hamilton |
| Contributors: | The Pennsylvania State University CiteSeerX Archives |
| Source: | http://cmm.ucsd.edu/Lab_Pages/hamilton/bah/epubs/Wen_2004_AJHG.pdf. |
| Collection: | CiteSeerX |
| Description: | The chromogranin/secretogranin proteins are costored and coreleased with catecholamines from secretory vesicles in chromaffin cells and noradrenergic neurons. Chromogranin A (CHGA) regulates catecholamine storage and release through intracellular (vesiculogenic) and extracellular (catecholamine release–inhibitory) mechanisms.CHGA is a candidate gene for autonomic dysfunction syndromes, including intermediate phenotypes that contribute to human hypertension. Here, we show a surprising pattern of CHGA variants that alter the expression and function of this gene, both in vivo and in vitro. Functional variants include both common alleles that quantitatively alter gene expression and rare alleles that qualitatively change the encoded product to alter the signaling potency of CHGA-derived catecholamine release–inhibitory catestatin peptides. |
| Document Type: | text |
| File Description: | application/pdf |
| Language: | English |
| Relation: | http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.517.3123; http://cmm.ucsd.edu/Lab_Pages/hamilton/bah/epubs/Wen_2004_AJHG.pdf |
| Availability: | http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.517.3123; http://cmm.ucsd.edu/Lab_Pages/hamilton/bah/epubs/Wen_2004_AJHG.pdf |
| Rights: | Metadata may be used without restrictions as long as the oai identifier remains attached to it. |
| Accession Number: | edsbas.E49E2B6F |
| Database: | BASE |