FMRP Associates with Polyribosomes as an mRNP, and the I304N Mutation of Severe Fragile X Syndrome Abolishes This Association

Molecular Cell - Tập 1 Số 1 - Trang 109-118 - 1997
Yue Feng1, Albert Hofman1, Derek E. Eberhart1, Victoria Brown1, Henry Malter1, Stephen T. Warren1
1Howard Hughes Medical Institute, Departments of Biochemistry, Pediatrics and Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA

Tóm tắt

Từ khóa


Tài liệu tham khảo

Ashley, 1993, FMR1 protein, Science, 262, 563, 10.1126/science.7692601

Ashley, 1993, Human and murine FMR-1 alternative splicing and translational initiation downstream of the CGG repeat, Nat. Genet, 4, 244, 10.1038/ng0793-244

Bonfa, 1989, Antiribosomal S10 antibodies in humans and MRL/lpr mice with systemic lupus erythematosus, Arthritis Rheum, 32, 1252, 10.1002/anr.1780321010

Burd, 1994, Conserved structures and diversity of functions of RNA-binding proteins, Science, 265, 615, 10.1126/science.8036511

Castiglione Morelli, 1995, The KH module has an αβ fold, FEBS Lett, 358, 193, 10.1016/0014-5793(94)01422-W

Ch'ng, 1990, Reversal of creatine kinase translational repression by 3′ untranslated sequences, Science, 248, 1003, 10.1126/science.2343304

Comery, 1997, Abnormal dendritic spines in fragile X knockout mice, Proc. Natl. Acad. Sci. USA, 94, 5401, 10.1073/pnas.94.10.5401

Corbin, 1997, The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes, Hum. Mol. Genet, 6, 1465, 10.1093/hmg/6.9.1465

De Boulle, 1993, A point mutation in the FMR-1 gene associated with fragile X mental retardation, Nat. Genet, 3, 31, 10.1038/ng0193-31

Devys, 1993, The FMR-1 protein is cytoplasmic, most abundant in neurons, and appears normal in carriers of the fragile X premutation, Nat. Genet, 4, 335, 10.1038/ng0893-335

Dreyfuss, 1993, hnRNP proteins and the biogenesis of mRNA, Annu. Rev. Biochem, 62, 289, 10.1146/annurev.bi.62.070193.001445

Eberhart, 1996, The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals, Hum. Mol. Genet, 5, 1083, 10.1093/hmg/5.8.1083

Eberhart, D.E., and Warren, S.T. (1996). Molecular basis of fragile X syndrome. In Cold Spring Harbor Symposia on Quantitative Biology Vol. LXI (Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press), pp. 679–687.

Feng, 1995, Quantitative comparison of FMR1 gene expression in normal and premutation alleles, Am. J. Hum. Genet, 56, 106

Feng, 1997, Fragile X mental retardation protein, J. Neurosci, 17, 1539, 10.1523/JNEUROSCI.17-05-01539.1997

Fridell, 1996, A nuclear role for the fragile X mental retardation protein, EMBO J, 15, 5408, 10.1002/j.1460-2075.1996.tb00924.x

Fu, 1991, Variation of the CGG repeat at the fragile X site results in genetic instability, Cell, 67, 1047, 10.1016/0092-8674(91)90283-5

Hensold, 1996, Inducers of erythroleukemic differentiation cause messenger RNAs that lack poly(A)-binding protein to accumulate in translationally inactive, salt-labile 80S ribosomal complexes, J. Biol. Chem, 271, 23246, 10.1074/jbc.271.38.23246

Hergersberg, 1995, Tissue-specific expression of a FMR1/β-galactosidase fusion gene in transgenic mice, Hum. Mol. Genet, 4, 359, 10.1093/hmg/4.3.359

Herrera, 1988, Importance of polysomal mRNA-associated polypeptides for protein synthesis initiation in yeast, Eur. J. Biochem, 175, 87, 10.1111/j.1432-1033.1988.tb14169.x

Hinds, 1993, Tissue specific expression of FMR1 provides evidence for a functional role in fragile X syndrome, Nature Genet, 3, 36, 10.1038/ng0193-36

Hinton, 1991, Analysis of neocortex in three males with the fragile X syndrome, Am. J. Med. Genet, 41, 289, 10.1002/ajmg.1320410306

Hirst, 1995, Two new cases of FMR1 deletions associated with mental impairment, Am. J. Hum. Genet, 56, 67

Jefferies, 1994, Elongation factor-1α mRNA is selectively translated following mitogenic stimulation, J. Biol. Chem, 269, 4367, 10.1016/S0021-9258(17)41789-3

Jones, 1995, Mutations in gld-1, a female germ cell-specific tumor suppresser gene in Caenorhabditis elegans, affect a conserved domain also found in Src-associated protein Sam68, EMBO J, 9, 1491

Khandjian, 1996, The fragile X mental retardation protein is associated with ribosomes, Nat. Genet, 12, 91, 10.1038/ng0196-91

Kiledjian, 1995, Identification of two KH domain proteins in the α-globin mRNP stability complex, EMBO J, 14, 4357, 10.1002/j.1460-2075.1995.tb00110.x

Leffers, 1995, Characterization of two major cellular poly(rC)-binding human proteins, each containing three K-homologous (KH) domains, Eur. J. Biochem, 230, 447, 10.1111/j.1432-1033.1995.tb20581.x

Lugenbeel, 1995, Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome, Nat. Genet, 10, 483, 10.1038/ng0895-483

Mahone, 1995, Localized Bicaudal-C RNA encodes a protein containing a KH domain, the RNA binding motif of FMR1, EMBO J, 14, 2043, 10.1002/j.1460-2075.1995.tb07196.x

Meijer, 1994, A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome, Hum. Mol. Genet, 3, 615, 10.1093/hmg/3.4.615

Musco, 1996, Three-dimensional structure and stability of the KH domain, Cell, 85, 237, 10.1016/S0092-8674(00)81100-9

Nelson, 1992, The translation machinery and 70 kd heat shock protein cooperate in protein synthesis, Cell, 71, 97, 10.1016/0092-8674(92)90269-I

Nielsen, 1995, Growth-dependent translation of IGF-II mRNA by a rapamycin-sensitive pathway, Nature, 377, 358, 10.1038/377358a0

Oberlé, 1991, Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome, Science, 252, 1097, 10.1126/science.252.5009.1097

Rudelli, 1985, Adult fragile X syndrome, Acta Neuropathol, 67, 289, 10.1007/BF00687814

Siomi, 1993, The protein product of the fragile X gene, FMR1, has characteristics of an RNA binding protein, Cell, 74, 291, 10.1016/0092-8674(93)90420-U

Siomi, 1994, Essential role for KH domains in RNA binding, Cell, 77, 33, 10.1016/0092-8674(94)90232-1

Siomi, 1995, FXR1, an autosomal homolog of the fragile X mental retardation gene, EMBO J, 14, 2401, 10.1002/j.1460-2075.1995.tb07237.x

Siomi, 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, 10.1128/MCB.16.7.3825

Sittler, 1996, Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmr1 protein isoforms, Hum. Mol. Genet, 5, 95, 10.1093/hmg/5.1.95

Sutcliffe, 1992, DNA methylation represses FMR-1 transcription in fragile X syndrome, Hum. Mol. Genet, 1, 397, 10.1093/hmg/1.6.397

Tamanini, 1996, FMRP is associated to the ribosomes via RNA, Hum. Mol. Genet, 5, 809, 10.1093/hmg/5.6.809

Urlaub, 1995, Protein-rRNA binding features and their structural and functional implications in ribosomes as determined by crosslinking studies, EMBO J, 14, 4578, 10.1002/j.1460-2075.1995.tb00137.x

Verkerk, 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, 10.1016/0092-8674(91)90397-H

Warren, 1994, Advances in molecular analysis of fragile X syndrome, J. Am. Med. Assoc, 271, 536, 10.1001/jama.1994.03510310066040

Zhang, 1995, The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2, EMBO J, 14, 5358, 10.1002/j.1460-2075.1995.tb00220.x