Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Annemiske J.M.H. Verkerk*, Maura Pieretti, James S. Sutcliffe, Ying Hui Fu, Derek P.A. Kuhl, Antonio Pizzuti, Orly Reiner, Stephen Richards, Maureen F. Victoria, Fuping Zhang, Bert E. Eussen, Gert Jan B. van Ommen, Lau A.J. Blonden, Gregory J. Riggins, Jane L. Chastain, Catherine B. Kunst, Hans Galjaard, C. Thomas Caskey, David L. Nelson, Ben A. OostraStephen T. Warran

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

3101 Citations (Scopus)

Abstract

Fragile X syndrome is the most frequent form of inherited mental retardation and is associated with a fragile site at Xq27.3. We identified human YAC clones that span fragile X site-induced translocation breakpoints coincident with the fragile X site. A gene (FMR-1) was identified within a four cosmid contig of YAC DNA that expresses a 4.8 kb message in human brain. Within a 7.4 kb EcoRI genomic fragment, containing FMR-1 exonic sequences distal to a CpG island previously shown to be hypermethylated in fragile X patients, is a fragile X site-induced breakpoint cluster region that exhibits length variation in fragile X chromosomes. This fragment contains a lengthy CGG repeat that is 250 bp distal of the CpG island and maps within a FMR-1 axon. Localization of the brain-expressed FMR-1 gene to this EcoRI fragment suggests the involvement of this gene in the phenotypic expression of the fragile X syndrome.

Original languageEnglish
Pages (from-to)905-914
Number of pages10
JournalCell
Volume65
Issue number5
DOIs
Publication statusPublished - 31 May 1991

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