Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/11452
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Type: Journal article
Title: Gene structure and subcellular localisation of FMR2, a member of a new family of putative transcription activators
Author: Gecz, J.
Bielby, S.
Sutherland, G.
Mulley, J.
Citation: Genomics, 1997; 44(2):201-213
Publisher: ACADEMIC PRESS INC JNL-COMP SUBSCRIPTIONS
Issue Date: 1997
ISSN: 0888-7543
1089-8646
Abstract: FMR2 is the gene associated with FRAXE mental retardation. It is expressed as an 8.7-kb transcript in placenta and adult brain. A fetal-specific FMR2 transcript of approximately 12 kb was detected in fetal brain and at a lower level in fetal lung and kidney. FMR2 is a large gene composed of 22 exons spanning at least 500 kb on Xq28. Alternative splicing involving exons 2, 3, 5, 7, and 21 was not tissue specific as tested on mRNA from human fetal and infant brain. FMR2 is translated into a 1311-amino-acid nuclear protein with putative transcription transactivation potential. Subcellular localization studies with green fluorescent protein as a reporter show that both nuclear addresses found in the FMR2 sequence are functional and direct the FMR2 protein into the nucleus. FMR2 together with AF4 and LAF4 forms a new family of nuclear proteins with DNA-binding capacity and transcription transactivation potential. BLAST searches of the dbEST database revealed the presence of at least two other groups of nonoverlapping ESTs showing high similarity to the FMR2-related family of proteins. One of them, represented by the EST W26686, maps to chromosome 5q31. Amino acid similarity among the proteins encoded by members of the gene family is high in the NH2 terminus, low in the middle, and high again in the COOH end. Available information from members of the family shows that genomic organization is conserved. This FMR2-related gene family encodes nuclear proteins with involvement in mental retardation (FMR2), cancer (AF4), and lymphocyte differentiation (LAF4) or with unknown function (EST W26686 and/or AA025630).
Keywords: Brain; Cell Nucleus; Subcellular Fractions; Fetus; Humans; Mental Retardation; Chromosome Fragility; Proteins; Trans-Activators; Luminescent Proteins; Green Fluorescent Proteins; Nuclear Proteins; DNA, Complementary; DNA Primers; Cloning, Molecular; Polymerase Chain Reaction; Phylogeny; Alternative Splicing; Amino Acid Sequence; Base Sequence; Sequence Homology, Amino Acid; Molecular Sequence Data; Adult; Infant; Promoter Regions, Genetic
RMID: 0030004300
DOI: 10.1006/geno.1997.4867
Appears in Collections:Genetics publications

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