Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/11493
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Type: Journal article
Title: Identification of the gene FMR2, associated with FRAXE mental retardation
Author: Gecz, J.
Gedeon, A.
Sutherland, G.
Mulley, J.
Citation: Nature Genetics, 1996; 13(1):105-108
Publisher: Nature Publishing Group
Issue Date: 1996
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
Jozef Gecz, Agi K. Gedeon, Grant R. Sutherland & John C. Mulley
Abstract: Five folate-sensitive fragile sites have been characterized at the molecular level (FRAXA, FRAXE, FRAXF, FRA16A and FRA11B). Three of them (FRAXA, FRAXE and FRA11B) are associated with clinical problems, and two of the genes (FMR1 in FRAXA and CBL2 in FRA11B) have been identified. All of these fragile sites are associated with (CCG)n/(CGG)n triplet expansions which are hypermethylated beyond a critical size. FRAXE is a rare folate sensitive fragile site only recently recognized. Its cytogenetic expression was found to involve the amplification of a (CCG)n repeat adjacent to a CpG island. Normal alleles vary from 6 to 25 copies. Expansions of greater than 200 copies were found in FRAXE expressing males and their FRAXE associated CpG island was fully methylated. An association of FRAXE expression with concurrent methylation of the CpG island and mild non-specific mental handicap in males has been reported by several groups. We now report the cloning and characterization of a gene (FMR2) adjacent to FRAXE. Elements of FMR2 were initially identified from sequences deleted from a developmentally delayed boy. We correlate loss of FMR2 expression with (CCG)n expansion at FRAXE, demonstrating that this is a gene associated with the CpG island adjacent to FRAXE and contributes for FRAXE-associated mild mental retardation.
Keywords: Brain; Chromosomes, Artificial, Yeast; Fetus; Humans; Mental Retardation; Fragile X Syndrome; Proteins; Trans-Activators; Nuclear Proteins; DNA Probes; Dinucleoside Phosphates; DNA Primers; Polymerase Chain Reaction; Pedigree; Gene Expression; Amino Acid Sequence; Base Sequence; Repetitive Sequences, Nucleic Acid; Sequence Homology, Amino Acid; Polymorphism, Genetic; Gene Library; Exons; Molecular Sequence Data; Child; Female; Male
Rights: © 1996 Nature Publishing Group
RMID: 0030004272
DOI: 10.1038/ng0596-105
Appears in Collections:Genetics publications

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