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
|
Text
ddm097.pdf - Published Version Available under License Publisher holds Copyright. Download (602kB) | Preview |
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 > Psychological and Behavioral Health |
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: |
20 Dec 2022 13:04 |
Publisher DOI: |
10.1093/hmg/ddm097 |
Web of Science ID: |
000248084900008 |
BORIS DOI: |
10.48350/26203 |
URI: |
https://boris.unibe.ch/id/eprint/26203 (FactScience: 66940) |
Actions (login required)
 |
Edit item |