Absence of expression of the FMR-1 gene in fragile X syndrome

Pieretti, Maura; Zhang, Fuping; Fu, Ying‐Hui; Warren, Stephen T.; Oostra, Ben A.; Caskey, C. Thomas; Nelson, David L.

doi:10.1016/0092-8674(91)90125-i

Cited by 1,313 publications

(756 citation statements)

References 10 publications

Supporting

Mentioning

736

Contrasting

Unclassified

Order By: Relevance

“…FXS. In contrast to the wide heterogeneity of autism-associated genes, FXS is caused by the silencing of FMR-1 that codes for FMRP 73 . Although most cases of autism are not associated with FXS, the prevalence of autism in FXS is estimated to range from 5% to 60% 74 .…”

Section: Accepted Manuscriptmentioning

confidence: 99%

Dendritic spine actin cytoskeleton in autism spectrum disorder

Joensuu¹,

Lanoue

Hotulainen

2018

Progress in Neuro-Psychopharmacology and Biological Psychiatry

View full text Add to dashboard Cite

Section: Accepted Manuscriptmentioning

confidence: 99%

Dendritic spine actin cytoskeleton in autism spectrum disorder

Joensuu¹,

Lanoue

Hotulainen

2018

Progress in Neuro-Psychopharmacology and Biological Psychiatry

View full text Add to dashboard Cite

“…One reason why long repeats might be selected against near housekeeping genes is that an abundance of these repeats might reduce gene expression via heterochromatin spread. Long transposons (Lyon, 1998;Marahrens, 1999;Bailey et al, 2000;Allen et al, 2003;Lippman et al, 2004;Sun et al, 2004) and long tracts of tandem repeats (Pieretti et al, 1991;Hansen et al, 1997;Saveliev et al, 2003) have been implicated in gene silencing via the spread of heterochromatin. Another reason why LINE-1 and other long transposons might be scarce around housekeeping genes is that the euchromatin could spread into the transposons and activate their internal promoters (Swergold, 1990;Minakami et al, 1992;Leib-Mösch and Seifarth, 1995;Speek, 2001;Athanikar et al, 2004).…”

Section: Long Repeats May Be Disadvantageous To Nearby Housekeeping Gmentioning

confidence: 99%

“…For example, in fragile X patients expansion mutations of a tandem simple sequence repeat located in an intron of the FMR1 gene result in the transcriptional silencing of the FMR1 gene (Pieretti et al, 1991). Transposable elements in Drosophila and plants have been implicated in the transcriptional silencing of nearby genes by the spread of heterochromatin (Lippman et al, 2004;Sun et al, 2004) raising the possibility that transposons may also be capable of reducing expression if located near genes in humans.…”

Section: Introductionmentioning

confidence: 99%

Repetitive sequence environment distinguishes housekeeping genes

Eller¹,

Regelson²,

Merriman³

et al. 2007

Gene

View full text Add to dashboard Cite

Housekeeping genes are expressed across a wide variety of tissues. Since repetitive sequences have been reported to influence the expression of individual genes, we employed a novel approach to determine whether housekeeping genes can be distinguished from tissue-specific genes their repetitive sequence context. We show that Alu elements are more highly concentrated around housekeeping genes while various longer (>400-bp) repetitive sequences ("repeats"), including Long Interspersed Nuclear Element 1 (LINE-1) elements, are excluded from these regions. We further show that isochore membership does not distinguish housekeeping genes from tissue-specific genes and that repetitive sequence environment distinguishes housekeeping genes from tissue-specific genes in every isochore. The distinct repetitive sequence environment, in combination with other previously published sequence properties of housekeeping genes, were used to develop a method of predicting housekeeping genes on the basis of DNA sequence alone. Using expression across tissue types as a measure of success, we demonstrate that repetitive sequence environment is by far the most important sequence feature identified to date for distinguishing housekeeping genes.

show abstract

“…The genotype is a CGG trinucleotide amplification on the X chromosome (Xq27.3) in the 5′ untranslated region of the fragile X mental retardation-1 (FMR1) gene that suppresses production of fragile X mental retardation protein (FMRP) (Pieretti, Zhang et al 1991;Verkerk, Pieretti et al 1991;Kaufmann, Cohen §Corresponding author, Daniel J Kelley, Waisman Center, UW-Madison, 1500Highland Ave., Rm T-115, Madison, WI 53705.et al 2002. FX premutation carriers have more than 55 CGG repeats and those with more than 200 repeats have a full FX mutation (Fu, Kuhl et al 1991).…”

Section: Introductionmentioning

confidence: 99%

The cyclic AMP phenotype of fragile X and autism

Kelley

Bhattacharyya

Lahvis

et al. 2008

Neuroscience & Biobehavioral Reviews

View full text Add to dashboard Cite

Cyclic AMP (cAMP) is a second messenger involved in many processes including mnemonic processing and anxiety. Memory deficits and anxiety are noted in the phenotype of fragile X (FX), the most common heritable cause of mental retardation and autism. Here we review reported observations of altered cAMP cascade function in FX and autism. Cyclic AMP is a potentially useful biochemical marker to distinguish autism comorbid with FX from autism per se and the cAMP cascade may be a viable therapeutic target for both FX and autism.

show abstract

Absence of expression of the FMR-1 gene in fragile X syndrome

Cited by 1,313 publications

References 10 publications

Dendritic spine actin cytoskeleton in autism spectrum disorder

Dendritic spine actin cytoskeleton in autism spectrum disorder

Repetitive sequence environment distinguishes housekeeping genes

The cyclic AMP phenotype of fragile X and autism

Contact Info

Product

Resources

About