The Freud-1/CC2D1A family: transcriptional regulators implicated in mental retardation.

Full Abstract

The CC2D1A gene family consists of two homologous genes, Freud-1/CC2D1A and Freud-2/CC2D1B, that share conserved domains, including several DM14 domains that are specific to this protein family, a C-terminal helix-loop-helix domain, and a C2 calcium-dependent phospholipid binding domain. Although the function of Freud-2 is unknown, Freud-1 has been shown to function as a transcriptional repressor of the serotonin-1A receptor gene that binds to a novel DNA element (FRE, 5'-repressor element). The DNA binding and repressor activities of Freud-1 are inhibited by calcium-calmodulin-dependent protein kinase. Recently, a deletion in the CC2D1A gene has been linked to nonsyndromic mental retardation. This deletion results in the truncation of the helix-loop-helix DNA binding and the C2 domains, crucial for Freud-1 repressor activity, and hence is predicted to generate an inactive or weakly dominant negative protein. The possible mechanisms by which inactivation of Freud-1 could lead to abnormal cortical development and cognitive impairment and the potential roles of Freud-1 gene targets are discussed.2007 Wiley-Liss, Inc.

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Author information

Author/s: Rogaeva, Anastasia (A); Galaraga, Kimberly (K); Albert, Paul R (PR);

Affiliation: Ottawa Health Research Institute (Neuroscience) and Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.

Journal and publication information

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal: Journal of neuroscience research (J Neurosci Res), published in United States. (Language: eng)

Reference: 2007-Oct; vol 85 (issue 13) : pp 2833-8

Dates: Created 2007/09/20; Completed 2008/01/17;

PMID: 17394259, status: MEDLINE (last retrieval date: 12/26/2008)

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Animals
DNA-Binding Proteins - genetics; metabolism; physiology
Gene Expression Regulation

Helix-Loop-Helix Motifs - physiology
Humans
Mental Retardation - genetics

Associated Chemicals: CC2D1A protein, human (0) ; DNA-Binding Proteins (0)

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