Dataset Information

Both rare and common polymorphisms contribute functional variation at CHGA, a regulator of catecholamine physiology.

ABSTRACT: 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.

SUBMITTER: Wen G

PROVIDER: S-EPMC1181918 | biostudies-literature | 2004 Feb

REPOSITORIES: biostudies-literature

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Both rare and common polymorphisms contribute functional variation at CHGA, a regulator of catecholamine physiology.

Wen Gen G Mahata Sushil K SK Cadman Peter P Mahata Manjula M Ghosh Sajalendu S Mahapatra Nitish R NR Rao Fangwen F Stridsberg Mats M Smith Douglas W DW Mahboubi Payam P Schork Nicholas J NJ O'Connor Daniel T DT Hamilton Bruce A BA

American journal of human genetics 20040112 2

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 ...[more]

PMID: 14740315

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Both rare and common polymorphisms contribute functional variation at CHGA, a regulator of catecholamine physiology.

Publications

Both rare and common polymorphisms contribute functional variation at CHGA, a regulator of catecholamine physiology.

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