Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
EMBO J
1995 Jun 01;1411:2401-8. doi: 10.1002/j.1460-2075.1995.tb07237.x.
Show Gene links
Show Anatomy links
FXR1, an autosomal homolog of the fragile X mental retardation gene.
Siomi MC
,
Siomi H
,
Sauer WH
,
Srinivasan S
,
Nussbaum RL
,
Dreyfuss G
.
???displayArticle.abstract???
Fragile X mental retardation syndrome, the most common cause of hereditary mental retardation, is directly associated with the FMR1 gene at Xq27.3. FMR1 encodes an RNA binding protein and the syndrome results from lack of expression of FMR1 or expression of a mutant protein that is impaired in RNA binding. We found a novel gene, FXR1, that is highly homologous to FMR1 and located on chromosome 12 at 12q13. FXR1 encodes a protein which, like FMR1, contains two KH domains and is highly conserved in vertebrates. The 3' untranslated regions (3'UTRs) of the human and Xenopus laevis FXR1 mRNAs are strikingly conserved (approximately 90% identity), suggesting conservation of an important function. The KH domains of FXR1 and FMR1 are almost identical, and the two proteins have similar RNA binding properties in vitro. However, FXR1 and FMR1 have very different carboxy-termini. FXR1 and FMR1 are expressed in many tissues, and both proteins, which are cytoplasmic, can be expressed in the same cells. Interestingly, cells from a fragile X patient that do not have any detectable FMR1 express normal levels of FXR1. These findings demonstrate that FMR1 and FXR1 are members of a gene family and suggest a biological role for FXR1 that is related to that of FMR1.
Abitbol,
Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain.
1993, Pubmed
Abitbol,
Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain.
1993,
Pubmed
Ashley,
FMR1 protein: conserved RNP family domains and selective RNA binding.
1993,
Pubmed
Ashley,
Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat.
1993,
Pubmed
Bächner,
Enhanced Fmr-1 expression in testis.
1993,
Pubmed
Burd,
Conserved structures and diversity of functions of RNA-binding proteins.
1994,
Pubmed
De Boulle,
A point mutation in the FMR-1 gene associated with fragile X mental retardation.
1993,
Pubmed
Devys,
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.
1993,
Pubmed
Eichler,
Fine structure of the human FMR1 gene.
1993,
Pubmed
Fu,
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.
1991,
Pubmed
Gahrton,
Cytogenetic mapping of the duplicated segment of chromosome 12 in lymphoproliferative disorders.
1982,
Pubmed
Gibson,
The KH domain occurs in a diverse set of RNA-binding proteins that include the antiterminator NusA and is probably involved in binding to nucleic acid.
1993,
Pubmed
Gibson,
KH domains within the FMR1 sequence suggest that fragile X syndrome stems from a defect in RNA metabolism.
1993,
Pubmed
Green,
Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction.
1990,
Pubmed
Hinds,
Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome.
1993,
Pubmed
Jackson,
Cytoplasmic regulation of mRNA function: the importance of the 3' untranslated region.
1993,
Pubmed
,
Xenbase
Jänne,
Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34.
1994,
Pubmed
Kiledjian,
Primary structure and binding activity of the hnRNP U protein: binding RNA through RGG box.
1992,
Pubmed
Mertens,
Clonal chromosome abnormalities in two liposarcomas.
1987,
Pubmed
Murty,
Allelic deletions in the long arm of chromosome 12 identify sites of candidate tumor suppressor genes in male germ cell tumors.
1992,
Pubmed
NULL,
Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium.
1994,
Pubmed
Oberlé,
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.
1991,
Pubmed
Pieretti,
Absence of expression of the FMR-1 gene in fragile X syndrome.
1991,
Pubmed
Rastinejad,
Genetic complementation reveals a novel regulatory role for 3' untranslated regions in growth and differentiation.
1993,
Pubmed
Rosenberg,
Vectors for selective expression of cloned DNAs by T7 RNA polymerase.
1987,
Pubmed
Sachs,
Messenger RNA degradation in eukaryotes.
1993,
Pubmed
Sanger,
DNA sequencing with chain-terminating inhibitors.
1977,
Pubmed
Singer,
RNA zipcodes for cytoplasmic addresses.
1993,
Pubmed
Siomi,
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein.
1993,
Pubmed
Siomi,
The pre-mRNA binding K protein contains a novel evolutionarily conserved motif.
1993,
Pubmed
,
Xenbase
Siomi,
Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome.
1994,
Pubmed
Sonenberg,
mRNA translation: influence of the 5' and 3' untranslated regions.
1994,
Pubmed
Studier,
Use of T7 RNA polymerase to direct expression of cloned genes.
1990,
Pubmed
Swanson,
Classification and purification of proteins of heterogeneous nuclear ribonucleoprotein particles by RNA-binding specificities.
1988,
Pubmed
Turc-Carel,
Breakpoints in benign lipoma may be at 12q13 or 12q14.
1988,
Pubmed
Verheij,
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome.
1993,
Pubmed
Verkerk,
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
1991,
Pubmed
Verkerk,
Alternative splicing in the fragile X gene FMR1.
1993,
Pubmed
Wilson,
Biochemical evolution.
1977,
Pubmed
Yu,
Fragile X genotype characterized by an unstable region of DNA.
1991,
Pubmed
