title: DNA methylation and replication: implications for the "deletion hotspot" region of FMR1.
abstract: Expansion and hyper-methylation of a CGG repeat tract are the main causes of fragile X syndrome (FRAXA). In some rare instances, FRAXA patients harbor not only an expanded CGG tract, but a deletion encompassing the CGG repeat and flanking sequences as well. Through the use of an SV40 primate replication system, it was possible to determine that CpG methylation and DNA replication may actually mediate the formation of these rare events. Also, the genetically stabilizing AGG interruptions can be lost by replication-mediated CGG deletions.
authors.affiliation: Program of Genetics & Genomic Biology, The Hospital for Sick Children, 55 University Avenue, Elm Wing 11-135, Toronto, Ontario, M5G 1X8, Canada.
authors.forename: K
authors.initials: K
authors.lastname: Nichol Edamura
authors.forename: C E
authors.initials: CE
authors.lastname: Pearson
mesh_terms: D000818:Animals; D019556:COS Cells; D002522:Chlorocebus aethiops; D019175:DNA Methylation; D004252:DNA Mutational Analysis / Q000379:methods; D004261:DNA Replication / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D017384:Sequence Deletion; D013539:Simian virus 40 / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D014779:Virus Replication / Q000235:genetics