Nucleosomal occupancy and CGG repeat expansion: a comparative analysis of triplet repeat region from mouse and human fragile X mental retardation gene 1

S Datta, MP Alam, SS Majumdar, AK Mehta… - Chromosome …, 2011 - Springer
The expansion of CGG repeats in the 5′-untranslated region (5′ UTR) of FMR1 gene is
the molecular basis of fragile X syndrome in most of the patients. The nature of the flanking …

Instability of a (CGG)98 repeat in the Fmr1 promoter

CJM Bontekoe, CE Bakker… - Human molecular …, 2001 - academic.oup.com
Fragile X syndrome is one of 14 trinucleotide repeat diseases. It arises due to expansion of a
CGG repeat which is present in the 5′-untranslated region of the FMR1 gene, disruption of …

FMR1 premutation allele (CGG)(81) is stable in mice

CJM Bontekoe, E de Graaff… - European Journal of …, 1997 - karger.com
Fragile X syndrome is caused by an expansion of the CGG repeat present in the 5'UTR of
the FMR1 gene. A lot has been elucidated about the genetics of the disease, but not much is …

Nucleosome assembly on methylated CGG triplet repeats in the fragile X mental retardation gene 1 promoter

JS Godde, SU Kass, MC Hirst, AP Wolffe - Journal of Biological Chemistry, 1996 - ASBMB
Expansion and methylation of CGG repeat sequences is associated with Fragile X syndrome
in humans. We have examined the consequences of CGG repeat expansion and …

Fully Expanded FMR1CGG Repeats Exhibit a Length-and Differentiation-Dependent Instability in Cell Hybrids That is Independent of DNA Methylation

RW Burman, BW Popovich, PB Jacky… - Human molecular …, 1999 - academic.oup.com
The fragile X syndrome is characterized at the molecular level by expansion and methylation
of a CGG trinucleotide repeat located within the FMR1 locus. The tissues of most full …

An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene

SJ Gray, J Gerhardt, W Doerfler, LE Small… - … and cellular biology, 2007 - Am Soc Microbiol
Fragile X syndrome, the most common form of inherited mental retardation in males, arises
when the normally stable 5 to 50 CGG repeats in the 5′ untranslated region of the fragile X …

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients

E Graaff, P Rouillard, P J. Willems… - Human molecular …, 1995 - academic.oup.com
The fragile X syndrome is the most frequent cause of inherited mental retardation. The
molecular mechanism of the disorder is based on the expansion of a CGG repeat in the …

Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations

B Primerano, F Tassone, RJ Hagerman, P Hagerman… - Rna, 2002 - cambridge.org
The Fragile X mental retardation gene (FMR1) contains a polymorphic trinucleotide CGG
repeat in the 5′ untranslated region (UTR) of the FMR1 messenger. We have characterized …

Comparative analysis of DNA methylation in transgenic mice with unstable CGG repeats from FMR1 gene

MP Alam, S Datta, S Majumdar, AK Mehta… - Epigenetics, 2010 - Taylor & Francis
Methylation of CpG sequences in and around CGG triplet repeats in FMR1 gene has strong
correlation with manifestation of the fragile X syndrome in human patients. In contrast, we …

Fragile X syndrome: the FMR1 CGG repeat distribution among world populations

E Peprah - Annals of human genetics, 2012 - Wiley Online Library
Fragile X syndrome (FXS) is characterized by moderate to severe intellectual disability,
which is accompanied by macroorchidism and distinct facial morphology. FXS is caused by …