Absence of expression of the FMR-1 gene in fragile X syndrome
- PMID: 1878973
- DOI: 10.1016/0092-8674(91)90125-i
Absence of expression of the FMR-1 gene in fragile X syndrome
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.
Similar articles
-
DNA methylation represses FMR-1 transcription in fragile X syndrome.Hum Mol Genet. 1992 Sep;1(6):397-400. doi: 10.1093/hmg/1.6.397. Hum Mol Genet. 1992. PMID: 1301913
-
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 May 31;65(5):905-14. doi: 10.1016/0092-8674(91)90397-h. Cell. 1991. PMID: 1710175
-
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 Aug;51(2):299-306. Am J Hum Genet. 1992. PMID: 1642231 Free PMC article.
-
Molecular pathology of the fragile X syndrome.Arch Pathol Lab Med. 1993 Nov;117(11):1121-5. Arch Pathol Lab Med. 1993. PMID: 8239933 Review.
-
Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.J Med Genet. 1996 Dec;33(12):1007-10. doi: 10.1136/jmg.33.12.1007. J Med Genet. 1996. PMID: 9004132 Free PMC article. Review.
Cited by
-
A simple procedure for bacterial expression and purification of the fragile X protein family.Sci Rep. 2020 Sep 28;10(1):15858. doi: 10.1038/s41598-020-72984-7. Sci Rep. 2020. PMID: 32985615 Free PMC article.
-
A neurophysiological model of speech production deficits in fragile X syndrome.Brain Commun. 2020;2(1):fcz042. doi: 10.1093/braincomms/fcz042. Epub 2019 Dec 9. Brain Commun. 2020. PMID: 32924010 Free PMC article.
-
RAN translation-What makes it run?Brain Res. 2016 Sep 15;1647:30-42. doi: 10.1016/j.brainres.2016.04.003. Epub 2016 Apr 6. Brain Res. 2016. PMID: 27060770 Free PMC article. Review.
-
RNA Structures as Mediators of Neurological Diseases and as Drug Targets.Neuron. 2015 Jul 1;87(1):28-46. doi: 10.1016/j.neuron.2015.06.012. Neuron. 2015. PMID: 26139368 Free PMC article. Review.
-
A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.EMBO Mol Med. 2015 Apr;7(4):423-37. doi: 10.15252/emmm.201404576. EMBO Mol Med. 2015. PMID: 25693964 Free PMC article.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Research Materials
