Journal ArticleDOI
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
I. Oberlé,François Rousseau,Dominique Heitz,Christine Kretz,Didier Devys,André Hanauer,Joëlle Boué,Bertheas Mf,Jean-Louis Mandel +8 more
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TLDR
expression of the fragile X syndrome appears to result from a two-step mutation as well as a highly localized methylation, and can easily be detected regardless of sex or phenotypic expression.Abstract:
The fragile X syndrome, a common cause of inherited mental retardation, is characterized by an unusual mode of inheritance. Phenotypic expression has been linked to abnormal cytosine methylation of...read more
Citations
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Journal ArticleDOI
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
J. David Brook,Mila E. McCurrach,H G Harley,Alan Buckler,Deanna M. Church,Hiroyuki Aburatani,Kent W. Hunter,Vincent P. Stanton,Jean Paul Thirion,Thomas J. Hudson,Robert L. Sohn,Boris V. Zemelman,Russell G. Snell,S A Rundle,Steve Crow,June Davies,Peggy Shelbourne,Jessica L. Buxton,Clare Jones,Vesa Juvonen,Keith J. Johnson,Peter S. Harper,D.J. Shaw,David E. Housman +23 more
TL;DR: Using positional cloning strategies, this work has identified a CTG triplet repeat that undergoes expansion in myotonic dystrophy patients and PCR analysis of the interval containing this repeat indicates that unaffected individuals have been 5 and 27 copies.
Journal ArticleDOI
Dna methylation and human disease
TL;DR: A large number of human diseases have been found to be associated with aberrant DNA methylation and the study of these diseases has provided new and fundamental insights into the roles that DNAmethylation and other epigenetic modifications have in development and normal cellular homeostasis.
Journal ArticleDOI
Unique features of long non-coding RNA biogenesis and function
Jeffrey J. Quinn,Howard Y. Chang +1 more
TL;DR: This Review describes special events in the lifetimes of lncRNAs — before, during and after transcription — and discusses how these events ultimately shape the unique characteristics and functional roles of lNCRNAs.
Journal ArticleDOI
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.
Ying-Hui Fu,Derek P.A. Kuhl,Antonio Pizzuti,Maura Pieretti,James S. Sutcliffe,James S. Sutcliffe,Stephen Richards,Annemieke J.M.H. Verkert,Jeanette J. A. Holden,Raymond G. Fenwick,Stephen T. Warren,Stephen T. Warren,Ben A. Oostra,David L. Nelson,C. Thomas Caskey +14 more
TL;DR: The risk of expansion during oogenesis to the full mutation associated with mental retardation increases with the number of repeats, and this variation in risk accounts for the Sherman paradox.
Journal ArticleDOI
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene
Mani S. Mahadevan,Catherine Tsilfidis,Luc A. Sabourin,G Shutler,Chris T. Amemiya,G Jansen,Catherine E. Neville,Monica Narang,Juana Barceló,K O'Hoy +9 more
TL;DR: Increases in the size of the allele in patients with DM are now shown to be due to an increased number of trinucleotide CTG repeats in the 3' untranslated region of a DM candidate gene.
References
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Journal ArticleDOI
Fragile X genotype characterized by an unstable region of DNA
S. Yu,M. Pritchard,Eric J. Kremer,Michael Lynch,J.K. Nancarrow,Elizabeth Baker,K. Holman,John C. Mulley,Stephen T. Warren,David Schlessinger,G. R. Sutherland,Robert I. Richards +11 more
TL;DR: This probe provides a means with which to analyze fragile X pedigrees and is a diagnostic reagent for the fragile X genotype.
Journal ArticleDOI
Effects of methylation on a synthetic polynucleotide: the B--Z transition in poly(dG-m5dC).poly(dG-m5dC).
Michael J. Behe,Gary Felsenfeld +1 more
TL;DR: The results suggest that the sequence m5dC-dG, which occurs in eukaryotic DNA, can have a disproportionately large effect on the B--Z transition.
Journal ArticleDOI
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
Stephanie L. Sherman,Patricia A. Jacobs,Newton E. Morton,U. Froster-Iskenius,Patricia N. Howard-Peebles,K. B. Nielsen,M. W. Partington,Grant R. Sutherland,Gillian Turner,M. Watson +9 more
TL;DR: It is suggested that obligate carrier mothers and daughters of intellectually normal transmitting males are rarely, if ever, mentally impaired and that the sibs of transmitting Males are much less likely to be retarded than the sIBs of mentally impaired males.
Journal Article
Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture.
TL;DR: There is a correlation between frequency of expression of the sites and pH of the culture medium for the sites on 2q, 10q and Xq, and a definition and classification of fragile sites is proposed.
Journal ArticleDOI
Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome
M. V. Bell,Mark C. Hirst,Y. Nakahori,Ruth N. MacKinnon,A. Roche,T.J. Flint,Patricia A. Jacobs,Niels Tommerup,L. Tranebjaerg,U. Froster-Iskenius,B. Kerr,Gillian Turner,Richard H. Lindenbaum,Robin M. Winter,M. Prembrey,Stephen N. Thibodeau,Kay E. Davies +16 more
TL;DR: There is no simple relationship between the degree of methylation and either the level of expression of the fragile site or the severity of the clinical phenotype in the fragile X syndrome.
Related Papers (5)
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 Eussen,Gert-Jan B. van Ommen,Lau Blonden,Gregory J. Riggins,Jane L. Chastain,Catherine B. Kunst,Hans Galjaard,C. Thomas Caskey,David L. Nelson,Ben A. Oostra,Stephen T. Warren +20 more