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

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 cosm...

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Published inCell Vol. 65; no. 5; pp. 905 - 914
Main Authors Verkerk, Annemieke J.M.H., Pieretti, Maura, Sutcliffe, James S., Fu, Ying-Hui, Kuhl, Derek P.A., Pizzuti, Antonio, Reiner, Orly, Richards, Stephen, Victoria, Maureen F., Zhang, Fuping, Eussen, Bert E., van Ommen, Gert-Jan B., Blonden, Lau A.J., Riggins, Gregory J., Chastain, Jane L., Kunst, Catherine B., Galjaard, Hans, Thomas Caskey, C., Nelson, David L., Oostra, Ben A., Warren, Stephen T.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 31.05.1991
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Summary: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.
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ISSN:0092-8674
1097-4172
DOI:10.1016/0092-8674(91)90397-H