Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis

Human Molecular Genetics

Volumn 6, Issue 8, 1997, Pages 1315-1322

  Tamanini, Filippo ^a   Willemsen, Rob ^a   Van Unen, Leontine ^a   Bontekoe, Carola ^a   Galjaard, Hans ^a   Oostra, Ben A ^a   Hoogeveen, André T ^a  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN PROTEIN; FRAGILE X MENTAL RETARDATION PROTEIN; PROTEIN SUBUNIT; RNA BINDING PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; BRAIN; BRAIN SYNAPTOSOME; CONTROLLED STUDY; CYTOPLASM; EMBRYO DEVELOPMENT; FETUS; FETUS DEVELOPMENT; FRAGILE X SYNDROME; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MACROORCHIDISM; MALE; MENTAL DEFICIENCY; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; RIBOSOME SUBUNIT; SEQUENCE HOMOLOGY; TESTIS; TESTIS CELL;

ADULT; ANIMALS; ANTIBODIES, MONOCLONAL; BRAIN; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MALE; MICE; NERVE TISSUE PROTEINS; RABBITS; RNA-BINDING PROTEINS; SYNAPTOSOMES; TESTIS;

ANIMALIA;

EID: 0030753950     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.8.1315     Document Type: Article

References (31)

1. Turner,G., Webb,T., Wake,S. and Robinson,H. (1996) The prevalence of the fragile X syndrome. Am. J. Med. Genet. 64, 196-197.
2. Hagerman,R.J. (1996) In Hagerman,R.J. and Silverman,A.C. (eds), Fragile X syndrome: Diagnosis, Treatment and Research. The John Hopkins University Press, Baltimore and London, pp. 3-87.
3. Oberlé,I., Rousseau,F., Heitz,D., Kretz,C., Devys,D., Hanauer,A., Boue,J., Bertheas,M.F. and Mandel,J.L. (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252, 1097-1102.
4. Verkerk,A.J., Pieretti,M., Sutcliffe,J.S., Fu,Y.H., Kuhl,D.P., Pizzuti,A., Reiner,O., Richards,S., Victoria,M.F., Zhang,F.P, Eussen,B.E., Van Ommen,G.J.B., Blonden,L.A.J., Riggins,G.J., Chastain,J.L., Kunst,C.B., Galjaard,H., Caskey,C.T., Nelson,D.L., Oostra,B.A. and Warren,S.T. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905-914.
5. Pieretti,M., Zhang,F.P., Fu,Y.H., Warren,S.T., Oostra,B.A., Caskey,C.T. and Nelson,D.L. (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66, 817-822.
6. Devys,D., Lutz,Y., Rouyer,N., Bellocq,J.P. and Mandel,J.L. (1993) The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nature Genet. 4, 335-340.
7. Verheij,C., Bakker,C.E., de Graaff,E., Keulemans,J., Willemsen,R., Verkerk,A.J., Galjaard,H., Reuser,A.J., Hoogeveen,A.T. and Oostra,B.A. (1993) Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 363, 722-724.
8. Ashley,C.,Jr, Wilkinson,K.D., Reines,D. and Warren,S.T. (1993) FMR1 protein: conserved RNP family domains and selective RNA binding. Science 262, 563-568.
9. Siomi,H., Siomi,M.C., Nussbaum,R.L. and Dreyfuss,G. (1993) The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell 74, 291-298.
10. De Boulle,K., Verkerk,A.J., Reyniers,E., Vits,L., Hendrickx,J., Van Roy,B., Van den Bos,F., de Graaff,E., Oostra,B.A. and Willems,P.J. (1993) A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nature Genet 3, 31-35.
11. Siomi,H., Choi,M., Siomi,M.C., Nussbaum,R.L. and Dreyfuss,G. (1994) 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. Cell 77, 33-39.
12. Verheij,C., De Graaff,E., Bakker,C.E., Willemsen,R., Willems,P.J., Meijer,N., Galjaard,H., Reuser,A.J.J., Oostra,B.A. and Hoogeveen,A.T. (1995) Characterization of FMR1 proteins isolated from different tissues. Hum. Mol. Genet. 4, 895-901.
13. Khandjian,E., Corbin,F., Woerly,S. and Rousseau,F. (1996). The fragile X mental retardation protein is associated with ribosomes. Nature Genet. 12, 91-93.
14. Siomi,M.C., Zhang,Y., Siomi,H. and Dreyfuss,G. (1996) Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them. Mol. Cell. Biol. 16, 3825-3832.
15. Tamanini,F., Meijer,N., Verheij,C., Willems,P.J., Galjaard,H., Oostra,B.A. and Hoogeveen,A.T. (1996) FMRP is associated to the ribosomes via RNA. Hum. Mol. Genet. 5, 809-813.
16. Eberhart,D.E., Maletr,H.E., Feng,Y. and Warren,S.T. (1996) The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals. Hum. Mol. Genet. 5, 1083-1091.
17. Willemsen,R., Bontekoe,C., Tamanini,F., Galjaard,H., Hoogeveen,A.T. and Oostra,B.A. (1996) Association of FMRP with ribosomal precursor particles in the nucleolus. Biochem. Biophvs. Res. Commun. 225, 27-33.
18. Fridell,R.A., Benson,R.E., Hua,J., Bogerd,H.P. and Cullen,B.R. (1996) A nuclear role for the fragile X mental retardation protein. EMBO J. 15, 5408-5414.
19. Liu,Q., Siomi,H., Siomi,M., Fischer,U., Zhang,Y., Wan,L. and Dreyfuss,G. (1997) Molecular characterization of the protein products of the fragile X syndrome gene and the survival of motor neuron genes. Cold Spring Harbor Symposia on Quantitative Biology Vol. LXI, in press.
20. Siomi,M.C., Siomi,H., Sauer,W.H., Srinivasan,S., Nussbaum,R.L. and Dreyfuss,G. (1995) FXR1, an autosomal homologue of the fragile X mental retardation gene. EMBO J. 14, 2401-2408.
21. Zhang,Y., Oconnor,J.P., Siomi,M.C., Srinivasan,S., Dutra,A., Nussbaum,R.L. and Dreyfuss,G. (1995) The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. EMBO J. 14, 5358-5366.
22. Coy,J.F., Sedlacek,Z., Bachner,D., Hameister,H., Joos,S., Lichter,P., Delius,H. and Poustka,A. (1995) Highly conserved 3′UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1. Hum. Mol. Genet. 4, 2209-2218.
23. Abilbol,M., Menini,C., Delezoide,A.L., Rhyner,T., Vekemans,M. and Mallet,J. (1993) Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain. Nature Genet. 4, 147-153.
24. Hinds,H.L., Ashley,C.T., Sutcliffe,J.S., Nelson,D.L. Warren,S.T., Housman,D.E. and Schalling,M. (1993) Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nature Genet. 3, 36-43.
25. Steward,O. and Levy,W.B. (1982) Preferential localization of polyribosomes under the base of dendritic spines in granule cells of the dentate girus. J. Neurosci. 2, 284-291.
26. de Grauff,E., Willemsen,R., Zhong,N., de Die-Smulders,C.E.M., Brown,T.B., Freling,G. and Oostra,B. (1995) Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor. Am. J. Hum. Genet. 57, 609-618.
27. Reyniers,E., Vits,L., De Boulle,K., Van Roy,B., Van Velzen,J.D., de Graaff,E., Verkerk,A.J.M.H., Jorens,H.Z., Darby,J.K., Oostra,B.A. and Willems,P.J. (1993) The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nature Genet. 4, 143-146.
28. Maller,E.M. Iber,J.C, Willemsen,R., de Graaff,E., Tarleton,J.C., Leisti,J., Warren,S.T. and Oostra,B.A. (1997) Characterization of the full fragile X syndrome mutation in fetal gametes. Nature Genet. 15, 165-169.
29. Feng,Y., Gutekunst,C.A., Eberhart,D.E., Yi,H., Warren,S.T. and Hersch,S.M. (1997) Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes. J. Neurosci. 17, 1539-1547.
30. Bakker,C.E., Verheij,C., Willemsen,R., Vanderhelm,R., Oerlemans,F., Vermey,M., Bygrave,A., Hoogeveen,A.T., Oostra,B.A., Reyniers,E., Deboulle,K., Dhooge,R., Cras,P., Van Velzen,D., Nagels,G., Martin,J.J., Dedeyn,P.P., Darby,J.K. and Willems,P.J. (1994) Fmrl knockout mice: A model to study fragile X mental retardation. Cell 78, 23-33.
31. Rao,A. and Steward,O. (1991). Evidence that protein constituents of postsynaptic membrane specializations are locally synthesized: analysis of proteins synthesized within synaptosomes. J. Neurosci. 11, 2881-2895.