Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance

Huentelman, Matthew; Papassotiropoulos, Andreas; Craig, David; Hoerndli, Frederic; Pearson, John; Huynh, Kim-Dung; Corneveaux, Janson; Hanggi, Jürgen; Mondadori, Christian; Buchmann, Andreas; Reiman, Eric; Henke, Katharina; de Quervain, Dominique; Stephan, Dietrich (2007). Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance. Human molecular genetics, 16(12), pp. 1469-1477. Oxford: Oxford University Press 10.1093/hmg/ddm097

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Little is known about the genes and proteins involved in the process of human memory. To identify genetic factors related to human episodic memory performance, we conducted an ultra-high-density genome-wide screen at > 500 000 single nucleotide polymorphisms (SNPs) in a sample of normal young adults stratified for performance on an episodic recall memory test. Analysis of this data identified SNPs within the calmodulin-binding transcription activator 1 (CAMTA1) gene that were significantly associated with memory performance. A follow up study, focused on the CAMTA1 locus in an independent cohort consisting of cognitively normal young adults, singled out SNP rs4908449 with a P-value of 0.0002 as the most significant associated SNP in the region. These validated genetic findings were further supported by the identification of CAMTA1 transcript enrichment in memory-related human brain regions and through a functional magnetic resonance imaging experiment on individuals matched for memory performance that identified CAMTA1 allele-specific upregulation of medial temporal lobe brain activity in those individuals harboring the 'at-risk' allele for poorer memory performance. The CAMTA1 locus encodes a purported transcription factor that interfaces with the calcium-calmodulin system of the cell to alter gene expression patterns. Our validated genomic and functional biological findings described herein suggest a role for CAMTA1 in human episodic memory.

Item Type: Journal Article (Original Article)
Division/Institute: 07 Faculty of Human Sciences > Institute of Psychology > Experimental Psychology and Neuropsychology
UniBE Contributor: Henke, Katharina
ISSN: 0964-6906
Publisher: Oxford University Press
Language: English
Submitter: Factscience Import
Date Deposited: 04 Oct 2013 15:01
Last Modified: 17 Mar 2015 22:12
Publisher DOI: 10.1093/hmg/ddm097
Web of Science ID: 000248084900008
URI: http://boris.unibe.ch/id/eprint/26203 (FactScience: 66940)

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