@article{2d11b14ca1d24ea0bce8bfaefb71f2fb,
title = "Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome",
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.",
author = "Verkerk, {Annemiske J.M.H.} and Maura Pieretti and Sutcliffe, {James S.} and Fu, {Ying Hui} and Kuhl, {Derek P.A.} and Antonio Pizzuti and Orly Reiner and Stephen Richards and Victoria, {Maureen F.} and Fuping Zhang and Eussen, {Bert E.} and {van Ommen}, {Gert Jan B.} and Blonden, {Lau A.J.} and Riggins, {Gregory J.} and Chastain, {Jane L.} and Kunst, {Catherine B.} and Hans Galjaard and {Thomas Caskey}, C. and Nelson, {David L.} and Oostra, {Ben A.} and Warran, {Stephen T.}",
note = "Funding Information: We thank K. E. Bakker, R. M. v. d. Helm, J. F. Peters, and C. L. Stayton for assistance and helpful discussion; S. Ledbetter and D. Ledbetter for their continuous support; and D. Le Paslier of CEPH (Paris) for the generous gift of the YAC library/clone. G. J. R. is a predoctoral fellow of the March of Dimes Birth Defects Foundation (16-90-57). 0. R. is a postdoctoral fellow of the Human Frontier Science Program. This research was supported by the Foundation of Clinical Genetics to A. J. M. H. V.; a grant of the MGCZWN to B. A. 0.; a DDE grant (FGO5-66ER60692) to D. L. N. and C. T. C.; the Howard Hughes Medical lnstiiute and a National Institutes of Health Genome Center Grant to C. T. C.; and NIH grants (HD20521 and HGOO036) to S. T. W. The costs of publication of this article were defrayed in part by the payment of page charges. This article must therefore be hereby marked {\textquoteleft}adv&semen~ in accordance with 16 USC Section 1734 solely to indicate this fact.",
year = "1991",
month = may,
day = "31",
doi = "10.1016/0092-8674(91)90397-H",
language = "English (US)",
volume = "65",
pages = "905--914",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "5",
}