| A fragile balance: FMR1 expression levels. | |
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MedLine Citation:
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PMID: 12952862 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The FMR1 gene is involved in three different syndromes, the Fragile X syndrome, premature ovarian failure (POF) and the Fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expanded CGG repeat above 200 units in the FMR1 gene resulting in the absence of the FMR1 mRNA and protein. The FMR1 protein is proposed to act as a regulator of mRNA transport and/or translation that plays a role in synaptic maturation and function. POF and FXTAS are found in individuals with an expanded repeat between 50 and 200 CGGs and are associated with increased FMR1 mRNA levels. The presence of elevated FMR1 mRNA in all patients suggests that these syndromes may represent a gain-of-function effect from the elevated message levels. The level of FMR1 mRNA is in fragile balance and is therefore critical for normal functioning. |
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Authors:
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Ben A Oostra; Rob Willemsen |
Publication Detail:
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Type: Journal Article; Review Date: 2003-09-02 |
Journal Detail:
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Title: Human molecular genetics Volume: 12 Spec No 2 ISSN: 0964-6906 ISO Abbreviation: Hum. Mol. Genet. Publication Date: 2003 Oct |
Date Detail:
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Created Date: 2003-09-23 Completed Date: 2004-06-04 Revised Date: 2005-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9208958 Medline TA: Hum Mol Genet Country: England |
Other Details:
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Languages: eng Pagination: R249-57 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, Erasmus MC, The Netherlands. b.oostra@erasmusmc.nl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Dendrites
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metabolism Female Fragile X Mental Retardation Protein Fragile X Syndrome / genetics* Heterozygote Detection Humans Male Mutation Nerve Tissue Proteins / genetics* Phenotype Protein Transport RNA, Messenger / genetics RNA-Binding Proteins* Trinucleotide Repeats |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA, Messenger; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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