Cell. 1991 Aug 23;66(4):817-22.

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

Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL.

Source

Institute for Molecular Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030.

Abstract

We previously reported the isolation of a gene (FMR-1) expressed in brain at the fragile X locus. One exon of this gene lies within an EcoRI fragment that exhibits length variation in fragile X patients. This exon also contains the CGG repeat within the CpG island hypermethylated in fragile X patients. To study the involvement of the FMR-1 gene in the fragile X syndrome, its expression was studied in lymphoblastoid cell lines and leukocytes derived from patients and normal controls. FMR-1 mRNA was absent in the majority of male fragile X patients, suggesting a close involvement of this gene in development of the syndrome. Normal individuals and carriers all show expression. The methylation status of the BssHII site at the CpG island was also studied by Southern blot analysis of DNA from patients, carriers, and controls. The minority of fragile X affected males that show expression of FMR-1 demonstrated an associated incomplete methylation of the BssHII site.

PMID:: 1878973; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

Research Materials

Coriell Cell Repositories

Supplemental Content

Save items

Related citations in PubMed

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. [Cell. 1991]
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP. Cell. 1991 May 31; 65(5):905-14.
DNA methylation represses FMR-1 transcription in fragile X syndrome. [Hum Mol Genet. 1992]
DNA methylation represses FMR-1 transcription in fragile X syndrome.
Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST. Hum Mol Genet. 1992 Sep; 1(6):397-400.
A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. [Am J Hum Genet. 1992]
A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.
Wöhrle D, Kotzot D, Hirst MC, Manca A, Korn B, Schmidt A, Barbi G, Rott HD, Poustka A, Davies KE. Am J Hum Genet. 1992 Aug; 51(2):299-306.
Review Molecular pathology of the fragile X syndrome. [Arch Pathol Lab Med. 1993]
Review Molecular pathology of the fragile X syndrome.
Tsongalis GJ, Silverman LM. Arch Pathol Lab Med. 1993 Nov; 117(11):1121-5.
Review [Molecular and genetic features of fragile X syndrome]. [Rev Med Chil. 1996]
Review [Molecular and genetic features of fragile X syndrome].
Jara L, Avendaño I, Aspillaga M, Blanco R. Rev Med Chil. 1996 Jul; 124(7):865-72.

See reviews... See all...

Cited by over 100 PubMed Central articles

MicroRNA-277 Modulates the Neurodegeneration Caused by Fragile X Premutation rCGG Repeats. [PLoS Genet. 2012]
MicroRNA-277 Modulates the Neurodegeneration Caused by Fragile X Premutation rCGG Repeats.
Tan H, Poidevin M, Li H, Chen D, Jin P. PLoS Genet. 2012 May; 8(5):e1002681. Epub 2012 May 3.
Glycogen synthase kinase-3: a promising therapeutic target for fragile x syndrome. [Front Mol Neurosci. 2011]
Glycogen synthase kinase-3: a promising therapeutic target for fragile x syndrome.
Mines MA, Jope RS. Front Mol Neurosci. 2011; 4:35. Epub 2011 Nov 1.
The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge. [Clin Biochem Rev. 2011]
The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.
Rousseau F, Labelle Y, Bussières J, Lindsay C. Clin Biochem Rev. 2011 Aug; 32(3):135-62.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
BioSample
BioSample links
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Absence of expression of the FMR-1 gene in fragile X syndrome.
Absence of expression of the FMR-1 gene in fragile X syndrome.
Cell. 1991 Aug 23 ;66(4):817-22.

PubMed
Regional analysis of femorotibial cartilage loss in a subsample from the Osteoar...
Regional analysis of femorotibial cartilage loss in a subsample from the Osteoarthritis Initiative progression subcohort.
Osteoarthritis Cartilage. 2009 Mar ;17(3):291-7. Epub 2008 Sep 11 .

PubMed
Effects of food fortification on nutritional and functional status in frail elde...
Effects of food fortification on nutritional and functional status in frail elderly nursing home residents at risk of malnutrition.
Nutrition. 2008 Nov-Dec ;24(11-12):1139-44. Epub 2008 Sep 11 .

PubMed
A review of the literature on gender and age differences in the prevalence and c...
A review of the literature on gender and age differences in the prevalence and characteristics of constipation in North America.
J Pain Symptom Manage. 2009 Apr ;37(4):737-45. Epub 2008 Sep 11 .

PubMed
Cows, Crohn's and more: is Mycobacterium paratuberculosis a superantigen?
Cows, Crohn's and more: is Mycobacterium paratuberculosis a superantigen?
Med Hypotheses. 2008 Dec ;71(6):858-61. Epub 2008 Sep 11 .

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

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

Source

Abstract

Publication Types, MeSH Terms, Substances, Grant Support

Publication Types

MeSH Terms

Substances

Grant Support

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Research Materials

Supplemental Content

Save items

Related citations in PubMed

Cited by over 100 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information