Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-13392
Huentelman, M J; Papassotiropoulos, A; Craig, D W; Hoerndli, F J; Pearson, J; Huynh, K; Corneveaux, J; Hänggi, Jü; Mondadori, C R A; Buchmann, A; Reiman, E M; Henke, K; de Quervain, D; Stephan, D A (2007). Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance. Human Molecular Genetics, 16(12):1469-1477.
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, refereed, original work|
|Communities & Collections:||04 Faculty of Medicine > Psychiatric University Hospital Zurich > Division of Psychiatric Research and Clinic for Psychogeriatric Medicine|
04 Faculty of Medicine > Center for Integrative Human Physiology
|DDC:||570 Life sciences; biology|
610 Medicine & health
|Deposited On:||20 Mar 2009 14:03|
|Last Modified:||28 Nov 2013 00:55|
|Publisher:||Oxford University Press|
|Citations:||Web of Science®. Times Cited: 22|
Scopus®. Citation Count: 24
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