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Volumn 6, Issue 3, 1996, Pages 334-342

Transcription factors in disease

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; ZINC FINGER PROTEIN;

EID: 0029946783     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(96)80011-6     Document Type: Article
Times cited : (60)

References (73)
  • 1
    • 0028212908 scopus 로고
    • The role of activators in assembly of RNA polymerase II transcription complexes
    • Hori R, Carey M: The role of activators in assembly of RNA polymerase II transcription complexes. Curr Opin Genet Dev 1994, 4:236-244.
    • (1994) Curr Opin Genet Dev , vol.4 , pp. 236-244
    • Hori, R.1    Carey, M.2
  • 2
    • 0028921122 scopus 로고
    • Structure and function of DNA-binding proteins
    • Nelson HCM: Structure and function of DNA-binding proteins. Curr Opin Genet Dev 1995, 5:180-189.
    • (1995) Curr Opin Genet Dev , vol.5 , pp. 180-189
    • Nelson, H.C.M.1
  • 3
    • 0028970090 scopus 로고
    • Structure and function of transcriptional activation domains
    • Triezenberg SJ: Structure and function of transcriptional activation domains. Curr Opin Genet Dev 1995, 5:190-196.
    • (1995) Curr Opin Genet Dev , vol.5 , pp. 190-196
    • Triezenberg, S.J.1
  • 4
    • 0028337542 scopus 로고
    • Transcriptional activation: A complex puzzle with few easy pieces
    • Tjian R, Maniatis T: Transcriptional activation: a complex puzzle with few easy pieces. Cell 1994, 77:5-8.
    • (1994) Cell , vol.77 , pp. 5-8
    • Tjian, R.1    Maniatis, T.2
  • 5
    • 0029163860 scopus 로고
    • Targeting the mouse genome: A compendium of knockouts
    • Brandon EP, Idzerda RL, McKnight GS: Targeting the mouse genome: a compendium of knockouts. Curt Biol 1995, 5:625-634,758-765,873-881,1073.
    • (1995) Curt Biol , vol.5 , pp. 625-634
    • Brandon, E.P.1    Idzerda, R.L.2    McKnight, G.S.3
  • 6
    • 0027970838 scopus 로고
    • Chromosomal translocations in human cancer
    • Rabbitts TH: Chromosomal translocations in human cancer. Nature 1994, 372:143-149.
    • (1994) Nature , vol.372 , pp. 143-149
    • Rabbitts, T.H.1
  • 7
    • 0028126819 scopus 로고
    • Pit-1 determines cell types during development of the anterior pituitary gland
    • Andersen B, Rosenfeld MG: Pit-1 determines cell types during development of the anterior pituitary gland. J Biol Chem 1994, 269:29335-29338.
    • (1994) J Biol Chem , vol.269 , pp. 29335-29338
    • Andersen, B.1    Rosenfeld, M.G.2
  • 8
    • 0029113026 scopus 로고
    • Pit-1 binding to specific DNa sites as a monomer or dimer determines gene-specific use of a tyrosine-dependent synergy domain
    • Holloway JM, Szeto DP, Scully KM, Glass CK, Rosenfeld MG: Pit-1 binding to specific DNA sites as a monomer or dimer determines gene-specific use of a tyrosine-dependent synergy domain. Genes Dev 1995, 9:1992-2006. The authors define a short domain in Pit1 that is required for synergistic prolactin gene activation by the estrogen receptor and Pit1. Interestingly, sequence-specific DNA-binding sites in the prolactin enhancer dictate the utilization of the synergy domain.
    • (1995) Genes Dev , vol.9 , pp. 1992-2006
    • Holloway, J.M.1    Szeto, D.P.2    Scully, K.M.3    Glass, C.K.4    Rosenfeld, M.G.5
  • 10
    • 0028988233 scopus 로고
    • Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
    • De Kok YJM, Van der Maaret SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pombrey ME, Ropers HH, Cremers FPM: Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 1995, 267:685-688. Yeast artificial chromosomes and cosmid contigs were used to identify the gene underlying X-linked mixed deafness and several patients were shown to carry mutations in the POU3F4 gene. Chromosomal breakpoints with physical distances varying between 15 kb and 400 kb 5′ to the coding region found in a few patients suggest a position effect.
    • (1995) Science , vol.267 , pp. 685-688
    • De Kok, Y.J.M.1    Van Der Maaret, S.M.2    Bitner-Glindzicz, M.3    Huber, I.4    Monaco, A.P.5    Malcolm, S.6    Pombrey, M.E.7    Ropers, H.H.8    Cremers, F.P.M.9
  • 11
    • 0028789040 scopus 로고
    • A duplication/ paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene
    • De Kok YJM, Merkx GFM, Van der Maarel SM, Huber I, Malcolm S, Ropers HH, Cremers FPM: A duplication/ paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene. Hum Mol Genet 1995, 4:2145-2150.
    • (1995) Hum Mol Genet , vol.4 , pp. 2145-2150
    • De Kok, Y.J.M.1    Merkx, G.F.M.2    Van Der Maarel, S.M.3    Huber, I.4    Malcolm, S.5    Ropers, H.H.6    Cremers, F.P.M.7
  • 12
    • 0029128828 scopus 로고
    • PAX genes: What's new in developmental biology and cancer?
    • Stuart ET, Gruss P: PAX genes: what's new in developmental biology and cancer? Hum Mol Genet 1995, 4:1717-1720.
    • (1995) Hum Mol Genet , vol.4 , pp. 1717-1720
    • Stuart, E.T.1    Gruss, P.2
  • 13
    • 0028919759 scopus 로고
    • Crystal structure of a paired domain-DMa complex at 2.5 Å resolution reveals structural basis for Pax developmental mutations
    • Xu W, Rould MA, Jun S, Desplan C, Pabo CO: Crystal structure of a paired domain-DMA complex at 2.5 Å resolution reveals structural basis for Pax developmental mutations. Cell 1995, 80:639-650. The co-crystal structure of the paired domain from the Drosophila paired protein allocates different roles to the amino-terminal and carboxy-terminal domains for DNA binding. The assignment of amino acids participating in DNA-protein interaction explains how missense mutations in the amino-terminal domain affect DNA binding.
    • (1995) Cell , vol.80 , pp. 639-650
    • Xu, W.1    Rould, M.A.2    Jun, S.3    Desplan, C.4    Pabo, C.O.5
  • 14
    • 0029160486 scopus 로고
    • High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA
    • Wilson DS, Guenther B, Desplan C, Kuriyan J: High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA. Cell 1995, 82:709-719. This study provides a model for cooperative DNA binding by two homeodomains achieved via protein-protein contacts and DNA distortions. The binding to palindromic DNA sequences enables homeodomain proteins to recognize longer, more specific, DNA target sequences.
    • (1995) Cell , vol.82 , pp. 709-719
    • Wilson, D.S.1    Guenther, B.2    Desplan, C.3    Kuriyan, J.4
  • 15
    • 0028966947 scopus 로고
    • Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
    • Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont MEM, Sullivan MJ, Dobyns WB, Eccles MR: Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 1995, 9:358-363. On the basis of the expression pattern, this group searched for, and found, a syndrome caused by PAX2 mutations. A good example for the successful application of the candidate gene approach.
    • (1995) Nat Genet , vol.9 , pp. 358-363
    • Sanyanusin, P.1    Schimmenti, L.A.2    McNoe, L.A.3    Ward, T.A.4    Pierpont, M.E.M.5    Sullivan, M.J.6    Dobyns, W.B.7    Eccles, M.R.8
  • 17
    • 0029590072 scopus 로고
    • Pax-2 controls multiple steps of urogenital development
    • Torres M, Gómez-Pardo E, Dressler GR, Gruss: Pax-2 controls multiple steps of urogenital development. Development 1995, 121:4057-4065. The generation of a knockout mouse proves that Pax2 is required for multiple steps during kidney, ureter, and genital tract development. Further analysis will give more insights on the role of Pax2 in brain and sensory organ development.
    • (1995) Development , vol.121 , pp. 4057-4065
    • Torres, M.1    Gómez-Pardo, E.2    Dressler, G.R.3    Gruss4
  • 20
    • 0029347087 scopus 로고
    • Patterning activity of vertebrate hedgehog proteins in the development eye and brain
    • •] show that a midline signal (a member of the hedgehog protein family) has opposing effects on the spatial distribution of Pax2 and Pax6 transcripts during early eye development. The authors suggest that this mechanism regulates the later subdivision of optic primordium into distinct eye structures (e.g. optic stalk and retinae).
    • (1995) Curr Biol , vol.5 , pp. 944-955
    • Ekker, S.C.1    Ungar, A.R.2    Greenstein, P.3    Von Kassler, D.P.4    Porter, J.A.5    Moon, R.T.6    Beachy, P.A.7
  • 21
    • 0029054291 scopus 로고
    • Pax6: More than meets the eye
    • Hanson I, Van Heyningen V: Pax6: more than meets the eye. Trends Genet 1995, 11:268-272.
    • (1995) Trends Genet , vol.11 , pp. 268-272
    • Hanson, I.1    Van Heyningen, V.2
  • 22
    • 0029097307 scopus 로고
    • Mutation of the PAX6 gene in patients with autosomal dominant keratitis
    • Mirzayans F, Pearce WG, MacDonald IM, Walter MA: Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet 1995, 57:539-548.
    • (1995) Am J Hum Genet , vol.57 , pp. 539-548
    • Mirzayans, F.1    Pearce, W.G.2    MacDonald, I.M.3    Walter, M.A.4
  • 23
    • 0027965633 scopus 로고
    • Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans
    • Quiring R, Walldorf U, Kloter U, Gehring WJ: Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans. Science 1994, 265:785-789.
    • (1994) Science , vol.265 , pp. 785-789
    • Quiring, R.1    Walldorf, U.2    Kloter, U.3    Gehring, W.J.4
  • 25
    • 0029149918 scopus 로고
    • Specification of sense-organ identity by a Caenorhabditis elegans Pax-6 homologue
    • •] describe the isolation of C. elegans pax6 mutants. C. elegans has no eyes and the results suggest that the early role of PAX6 is to regulate head patterning and sensory organ formation. The high degree of amino acid sequence conservation of both DNA-binding domains implies strong evolutionary pressure, from nematodes and mammals, to maintain Pax6 DNA-binding function. Some of the target genes may therefore also be conserved.
    • (1995) Nature , vol.376 , pp. 55-59
    • Zhang, Y.1    Emmons, S.W.2
  • 26
    • 0028944665 scopus 로고
    • Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila
    • Halder G, Callaerts P, Gehring WJ: Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila. Science 1995, 267:1788-1792. Expression of either Drosophila or murine Pax6 in Drosophila under the control of an imaginai disc specific promoter results in ectopic eye formation. This report strongly suggests that Pax6 acts as a dominant regulator of eye development, probably in combination with other imaginai disc specific factors.
    • (1995) Science , vol.267 , pp. 1788-1792
    • Halder, G.1    Callaerts, P.2    Gehring, W.J.3
  • 27
    • 0029028059 scopus 로고
    • Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature
    • Baldwin CT, Hoth CF, Macina RA, Milunsky A: Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am J Med Genet 1995, 58:115-122.
    • (1995) Am J Med Genet , vol.58 , pp. 115-122
    • Baldwin, C.T.1    Hoth, C.F.2    Macina, R.A.3    Milunsky, A.4
  • 28
    • 0028784906 scopus 로고
    • A transgenic neuroanatomical marker identifies cranial neural crest deficiencies associated with the Pax3 mutant Splotch
    • Tremblay P, Kessel M, Gruss P: A transgenic neuroanatomical marker identifies cranial neural crest deficiencies associated with the Pax3 mutant Splotch. Dev Biol 1995, 171:317-329.
    • (1995) Dev Biol , vol.171 , pp. 317-329
    • Tremblay, P.1    Kessel, M.2    Gruss, P.3
  • 29
    • 0028972923 scopus 로고
    • The mutational spectrum in Waardenburg syndrome
    • Tassabehji M, Newton VE, Liu XZ, Bradey A, Donnai D, Krajewska-Walasek M, Murday V, Norman A, Obersztyn E, Reardon W et al.: The mutational spectrum in Waardenburg syndrome. Hum Mol Genet 1995, 11:2131-2137. More than 100 patients with auditory-pigmentary syndromes were screened for mutations in PAX3 and MITF. The authors conclude that WS1 and WS3 are allelic and are always caused by loss-of-function mutations in PAX3, whereas only a proportion of WS2 patients bear mutations within the MITF gene. The question of which gene defect underlies the remaining WS2 patient phenotypes remains unanswered.
    • (1995) Hum Mol Genet , vol.11 , pp. 2131-2137
    • Tassabehji, M.1    Newton, V.E.2    Liu, X.Z.3    Bradey, A.4    Donnai, D.5    Krajewska-Walasek, M.6    Murday, V.7    Norman, A.8    Obersztyn, E.9    Reardon, W.10
  • 30
    • 0028789866 scopus 로고
    • Insight into the microphthalmia gene
    • Moore KJ: Insight into the microphthalmia gene. Trends Genet 1995, 11:442-448.
    • (1995) Trends Genet , vol.11 , pp. 442-448
    • Moore, K.J.1
  • 31
    • 0029164842 scopus 로고
    • The function and evolution of Msx genes: Pointers and paradoxes
    • Davidson D: The function and evolution of Msx genes: pointers and paradoxes. Trends Genet 1995, 11:405-411.
    • (1995) Trends Genet , vol.11 , pp. 405-411
    • Davidson, D.1
  • 33
    • 0029031566 scopus 로고
    • Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull
    • Liu YH, Kundu R, Wu L, Luo W, Ignelzi MA, Snead ML, Maxson RE: Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull. Proc Natl Acad Sci USA 1995, 92:6137-6141.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 6137-6141
    • Liu, Y.H.1    Kundu, R.2    Wu, L.3    Luo, W.4    Ignelzi, M.A.5    Snead, M.L.6    Maxson, R.E.7
  • 35
    • 0030065606 scopus 로고    scopus 로고
    • Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly
    • Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E: Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 1996, 12:94-96. Another example of how to make good use of the candidate gene approach. On the basis of expression studies of the mouse homologs of the Drosophila orthodenticle and empty spiracles genes- Otx1, Otx2, Emx1, Emx2, respectively-human candidate diseases were screened for mutations.
    • (1996) Nat Genet , vol.12 , pp. 94-96
    • Brunelli, S.1    Faiella, A.2    Capra, V.3    Nigro, V.4    Simeone, A.5    Cama, A.6    Boncinelli, E.7
  • 36
    • 0028821386 scopus 로고
    • Isolation and characterization of a cosmid contig for the GCPS gene region
    • Vortkamp A, Heid C, Gessler M, Grzeschik KH: Isolation and characterization of a cosmid contig for the GCPS gene region. Hum Genet 1995, 95:82-88.
    • (1995) Hum Genet , vol.95 , pp. 82-88
    • Vortkamp, A.1    Heid, C.2    Gessler, M.3    Grzeschik, K.H.4
  • 37
    • 0027478216 scopus 로고
    • J mutation contains an intragenic deletion of the Gli3 gene
    • J mutation contains an intragenic deletion of the Gli3 gene. Nat Genet 1993, 3:241-246.
    • (1993) Nat Genet , vol.3 , pp. 241-246
    • Hui, C.C.1    Joyner, A.L.2
  • 38
    • 0028587166 scopus 로고
    • The genetics of Wilms' tumor-a case of disrupted development
    • Hastie ND: The genetics of Wilms' tumor-a case of disrupted development Annu Rev Genet 1994, 28:523-558.
    • (1994) Annu Rev Genet , vol.28 , pp. 523-558
    • Hastie, N.D.1
  • 39
  • 40
    • 0029071508 scopus 로고
    • Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing
    • Larsson SH, Charlieu JP, Miyagawa K, Engelkamp D, Rassoulzadegan M, Ross A, Cuzin F, Van Heyningen V, Hastie ND: Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing. Cell 1995, 81:391-401. The authors use confocal microcopy to determine the subcellular localization of WT1. Depending on the presence or absence of an alternative splice insertion, WT1 predominantly colocalizes with transcription factor domains or with components of the splicing machinery. This study implies that WT1 may be involved in RNA processing and plays a wider role than just as a DNA-binding transcription factor.
    • (1995) Cell , vol.81 , pp. 391-401
    • Larsson, S.H.1    Charlieu, J.P.2    Miyagawa, K.3    Engelkamp, D.4    Rassoulzadegan, M.5    Ross, A.6    Cuzin, F.7    Van Heyningen, V.8    Hastie, N.D.9
  • 42
    • 0028000410 scopus 로고
    • Resistance to thyroid hormone: An historical overview
    • Refetoff S: Resistance to thyroid hormone: an historical overview. Thyroid 1994, 4:345-349.
    • (1994) Thyroid , vol.4 , pp. 345-349
    • Refetoff, S.1
  • 47
    • 0028922314 scopus 로고
    • Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: Possible pathogenetic relevance for the (CAG)n-expanded neuronopathies
    • Kazemi-Esfarjani P, Trifiro MA, Pinsky L: Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: possible pathogenetic relevance for the (CAG)n-expanded neuronopathies. Hum Mol Genet 1995, 4:523-527.
    • (1995) Hum Mol Genet , vol.4 , pp. 523-527
    • Kazemi-Esfarjani, P.1    Trifiro, M.A.2    Pinsky, L.3
  • 50
    • 0028598360 scopus 로고
    • Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenlta and hypogonadotropic hypogonadism
    • ••] reports the positional cloning of the gene responsible for X-linked AHC. Mutations and chromosomal rearrangements in DAX1 are shown to cause AHC and hypogonadic hypogonadism. The authors give evidence for the DNA-binding abilities of DAX1 and provide a mechanism for the action of DAX1 as a dominant repressor of retinoic acid mediated transcription.
    • (1994) Nature , vol.372 , pp. 672-676
    • Muscatelli, F.1    Strom, T.M.2    Walker, A.P.3    Zanaria, E.4    Récan, D.5    Meindl, A.6    Bardoni, B.7    Guioli, S.8    Zehetner, G.9    Rabl, W.10
  • 52
    • 0029047410 scopus 로고
    • Identification of a putative steroidogenic factor-1 response element in the DAX-1 promoter
    • Burris TP, Guo W, Le T, McCabe ER: Identification of a putative steroidogenic factor-1 response element In the DAX-1 promoter. Biochem Biophys Res Commun 1995, 214:576-581.
    • (1995) Biochem Biophys Res Commun , vol.214 , pp. 576-581
    • Burris, T.P.1    Guo, W.2    Le, T.3    McCabe, E.R.4
  • 53
    • 0028303959 scopus 로고
    • A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation
    • Luo X, Ikeda Y, Parker KL: A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 1994, 77:481-490.
    • (1994) Cell , vol.77 , pp. 481-490
    • Luo, X.1    Ikeda, Y.2    Parker, K.L.3
  • 54
    • 0029619641 scopus 로고
    • Reversal of intrinsic DNA bends in the IFN gene enhancer by transcription factors and the architectural protein HMG I(Y)
    • Falvo JV, Thanos O, Maniatis T: Reversal of intrinsic DNA bends in the IFN gene enhancer by transcription factors and the architectural protein HMG I(Y), Cell 1995, 83:1101-1111. A detailed analysis of the cooperative binding of a range of transcripton factors to the interferon β gene enhancer is shown. The subtle DNA bending introduced by HMG IY proteins provides a model for the HMGI-family of architectural transcription factors.
    • (1995) Cell , vol.83 , pp. 1101-1111
    • Falvo, J.V.1    Thanos, O.2    Maniatis, T.3
  • 55
    • 0029094755 scopus 로고
    • Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor Hmgic
    • Zhou X, Benson KF, Ashar HR, Chada K: Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor Hmgic. Nature 1995, 376:771-774. A random transgene insertion produced a mouse with the pygmy phenotype. The gene was isolated using the transgene tag and identified as Hmgic. To confirm gene identity, Hgmic was then disrupted by homologous recombination and again produced by the pygmy phenotype. Cell culture experiments suggest that Hmgic is involved in cell proliferation.
    • (1995) Nature , vol.376 , pp. 771-774
    • Zhou, X.1    Benson, K.F.2    Ashar, H.R.3    Chada, K.4
  • 57
    • 0029018303 scopus 로고
    • Disruption of the architectural factor HMGI-C: DNA-binding at hook motifs fused in lipomas to distinct transcriptional regulatory domains
    • •] identify HMGIC as the gene disrupted by chromosomal rearrangements in lipomas and mesenchymal benign tumors. As a result of the rearrangements, the DNA-binding domain of HMGIC is fused to LIM domains or acidic trans-activation domains. The hybrid produced presumably causes abnormal cell proliferation leading to neoplasia.
    • (1995) Cell , vol.82 , pp. 57-65
    • Ashar, H.R.1    Schoenberg-Fejzo, M.2    Tkachenko, A.3    Zhou, X.4    Fletcher, J.A.5    Weremowicz, S.6    Morton, C.C.7    Chada, K.8
  • 58
    • 0028939603 scopus 로고
    • Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)
    • Gibbons RJ, Picketts DJ, Villard L, Higgs DR: Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome). Cell 1995, 80:837-845. By using positional cloning techniques, the authors identified the gene underlying ATRX. The phenotype of ATRX patients and homology of the ATRX gene with helicases and DNA-dependent ATPases suggests that the protein is involved in global transcriptional regulation.
    • (1995) Cell , vol.80 , pp. 837-845
    • Gibbons, R.J.1    Picketts, D.J.2    Villard, L.3    Higgs, D.R.4
  • 59
    • 0029128827 scopus 로고
    • Syndromal mental retardation due to mutations in a regulator of gene expression
    • Gibbons RJ, Picketts DJ, Higgs DR: Syndromal mental retardation due to mutations in a regulator of gene expression. Hum Mol Genet 1995, 4:1705-1709.
    • (1995) Hum Mol Genet , vol.4 , pp. 1705-1709
    • Gibbons, R.J.1    Picketts, D.J.2    Higgs, D.R.3
  • 61
    • 0029022770 scopus 로고
    • Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
    • Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, Van Ommen GJB, Goodman RH, Peters DJM, Breuning MH: Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 1995, 376:348-351. This paper details another case of haplo-insufficiency. The authors show that heterozygote mutations in a transcriptional co-activator of cyclic-AMP mediated gens expression leads to Rubinstein-Taybi syndrome.
    • (1995) Nature , vol.376 , pp. 348-351
    • Petrij, F.1    Giles, R.H.2    Dauwerse, H.G.3    Saris, J.J.4    Hennekam, R.C.5    Masuno, M.6    Tommerup, N.7    Van Ommen, G.J.B.8    Goodman, R.H.9    Peters, D.J.M.10    Breuning, M.H.11
  • 63
    • 0028985162 scopus 로고
    • Adenoviral E1A-associated protein p300 as a functional homologue of the transcriptional co-activator CBP
    • •] show that p300 can substitute for CBP in mediating cyclic-AMP regulated gene expression. The restricted pattern of tissues affected in Rubinstein-Taybi syndrome, however, is still not understood and it is not clear whether there is real redundancy between p300 and CBP.
    • (1995) Nature , vol.374 , pp. 85-88
    • Lundblad, J.R.1    Kwok, R.P.2    Laurance, M.E.3    Harter, M.L.4    Goodman, R.H.5
  • 64
    • 0029126892 scopus 로고
    • Inhibition of transcription elongation by the VHL tumor suppressor protein
    • Duan DR, Pause A, Burgess WH, Aso T, Chen DYT, Garrett KP, Conaway RC, Coanaway JW, Linehan WM, Klausner RD: Inhibition of transcription elongation by the VHL tumor suppressor protein. Science 1995, 269:1402-1406. The authors provide a model for VHL-mediated inhibition of RNA polymerase II transcription elongation. VHL binds tightly to the Elongin subunits B and C, preventing their assembly with the Elongin A subunit. The Elongin ABC complex is the active form, whereas the Elongin BC-VHL protein complex inhibits transcription elongation.
    • (1995) Science , vol.269 , pp. 1402-1406
    • Duan, D.R.1    Pause, A.2    Burgess, W.H.3    Aso, T.4    Chen, D.Y.T.5    Kp, G.6    Conaway, R.C.7    Coanaway, J.W.8    Linehan, W.M.9    Klausner, R.D.10
  • 65
    • 0027234988 scopus 로고
    • Dimerization and the control of transcription by Krüppel
    • Sauer F, Jäckle H: Dimerization and the control of transcription by Krüppel. Nature 1993, 364:454-457.
    • (1993) Nature , vol.364 , pp. 454-457
    • Sauer, F.1    Jäckle, H.2
  • 66
    • 0027479495 scopus 로고
    • Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B leyden factor IX mutation
    • Picketts DJ, Lillicrap DP, Muller CR: Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B leyden factor IX mutation. Nat Genet 1993, 3:175-179.
    • (1993) Nat Genet , vol.3 , pp. 175-179
    • Picketts, D.J.1    Lillicrap, D.P.2    Muller, C.R.3
  • 67
    • 0024560650 scopus 로고
    • Increased γ-globin expression in a non deletion HPFH mediated by an erythroid specific DNA-binding factor
    • Martin DIK, Tsai SF, Orkin SH: Increased γ-globin expression in a non deletion HPFH mediated by an erythroid specific DNA-binding factor. Nature 1989, 338:435-438.
    • (1989) Nature , vol.338 , pp. 435-438
    • Dik, M.1    Tsai, S.F.2    Orkin, S.H.3
  • 70
    • 0028587165 scopus 로고
    • Germline p53 mutations and heritable cancer
    • Malkin D: Germline p53 mutations and heritable cancer. Annu Rev Genet 1994, 28:443-465.
    • (1994) Annu Rev Genet , vol.28 , pp. 443-465
    • Malkin, D.1
  • 72
    • 0029998350 scopus 로고    scopus 로고
    • Deregulation of PAX-5 by translocation of the Eμ enhancer of the IgH locus adjacent to two alternative PAX-5 promoters in a diffuse large-cell lymphoma
    • in press
    • Busslinger M, Kix N, Pfeffer P, Graninger PG, Kozmik Z: Deregulation of PAX-5 by translocation of the Eμ enhancer of the IgH locus adjacent to two alternative PAX-5 promoters in a diffuse large-cell lymphoma. Proc Natl Acad Sci USA 1996, in press.
    • (1996) Proc Natl Acad Sci USA
    • Busslinger, M.1    Kix, N.2    Pfeffer, P.3    Graninger, P.G.4    Kozmik, Z.5
  • 73
    • 0029871929 scopus 로고    scopus 로고
    • Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
    • Muragaki Y, Mundlos S, Upton J, Olsen BR: Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 1996, 272:548-551. Three synpolydactyly families with dominant inheritance were shown to have different in-frame insertions of a polyalanine tract. Although this implies that the region concerned has an important biological function, the polyalanine tract is absent in zebrafish and is only 9 residues long in chick compared with 15 in man. The 'amplified' region is not a pure trinucleotide repeat. Hoxd13 knockout mice have a normal phenotype.
    • (1996) Science , vol.272 , pp. 548-551
    • Muragaki, Y.1    Mundlos, S.2    Upton, J.3    Olsen, B.R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.