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

Research output: Contribution to journalArticle

Abstract

Fragile X syndrome Is the most frequent form of inherited mental retardation and Is associated with a fragile site at Xg27.3. 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 8 four cosmid contig of YAC DNA that expresses a 4.8 kb message in human brain. Within a 7.4 kb EcoFII 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 by distal of the CpG island and maps within a FMR-1 axon. Localization of the brain-expressed FMR-1 gene to this EcoRl fragment suggests the involvement of this gene in the phenotypic expression of the fragile X syndrome.

Original languageEnglish (US)
Pages (from-to)905-914
Number of pages10
JournalCell
Volume65
Issue number5
DOIs
StatePublished - May 31 1991
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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  • Cite this

    Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y. H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., Eussen, B. E., van Ommen, G. J. B., Blonden, L. A. J., Riggins, G. J., Chastain, J. L., Kunst, C. B., Galjaard, H., Thomas Caskey, C., Nelson, D. L., ... Warran, S. T. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65(5), 905-914. https://doi.org/10.1016/0092-8674(91)90397-H