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Volumn 66, Issue 2, 2000, Pages 378-392

Mutations in the AIRE gene: Effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis - Ectodermal dystrophy protein

Author keywords

[No Author keywords available]

Indexed keywords

AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY PROTEIN; POLYPEPTIDE; UNCLASSIFIED DRUG;

EID: 0242536432     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302765     Document Type: Article
Times cited : (320)

References (38)
  • 1
    • 0028861418 scopus 로고
    • The PHD finger: Implications for chromatin-mediated transcriptional regulation
    • Aasland R, Gibson TJ, Stewart AF (1995) The PHD finger: implications for chromatin-mediated transcriptional regulation. Trends Biochem Sci 20:56-59
    • (1995) Trends Biochem Sci , vol.20 , pp. 56-59
    • Aasland, R.1    Gibson, T.J.2    Stewart, A.F.3
  • 2
    • 0025295238 scopus 로고
    • Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients
    • Ahonen P, Myllarniemi S, Sipila I, Perheentupa J (1990) Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 322:1829-1836
    • (1990) N Engl J Med , vol.322 , pp. 1829-1836
    • Ahonen, P.1    Myllarniemi, S.2    Sipila, I.3    Perheentupa, J.4
  • 7
    • 0028932963 scopus 로고
    • The solution structure of the RING finger domain from the acute promyelocytic leukaemia proto-oncoprotein PML
    • Borden KL, Boddy MN, Lally J, O'Reilly NJ, Martin S, Howe K, Solomon E, et al (1995a) The solution structure of the RING finger domain from the acute promyelocytic leukaemia proto-oncoprotein PML. EMBO J 14:1532-1541
    • (1995) EMBO J , vol.14 , pp. 1532-1541
    • Borden, K.L.1    Boddy, M.N.2    Lally, J.3    O'Reilly, N.J.4    Martin, S.5    Howe, K.6    Solomon, E.7
  • 8
    • 0028844506 scopus 로고
    • Novel topology of a zinc-binding domain from a protein involved in regulating early Xenopus development
    • Borden KL, Lally JM, Martin SR, O'Reilly NJ, Etkin LD, Freemont PS (1995b) Novel topology of a zinc-binding domain from a protein involved in regulating early Xenopus development. EMBO J 14:5947-5956
    • (1995) EMBO J , vol.14 , pp. 5947-5956
    • Borden, K.L.1    Lally, J.M.2    Martin, S.R.3    O'Reilly, N.J.4    Etkin, L.D.5    Freemont, P.S.6
  • 9
    • 0030751654 scopus 로고    scopus 로고
    • Involvement of the rfp tripartite motif in protein-protein interactions and subcellular distribution
    • Cao T, Borden KL, Freemont PS, Etkin LD (1997) Involvement of the rfp tripartite motif in protein-protein interactions and subcellular distribution. J Cell Sci 110:1563-1571
    • (1997) J Cell Sci , vol.110 , pp. 1563-1571
    • Cao, T.1    Borden, K.L.2    Freemont, P.S.3    Etkin, L.D.4
  • 11
    • 0346599403 scopus 로고    scopus 로고
    • An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    • Finnish-German APECED Consortium, The (1997) An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains: autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Nat Genet 17:399-403
    • (1997) Nat Genet , vol.17 , pp. 399-403
  • 12
    • 0032127876 scopus 로고    scopus 로고
    • The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor
    • Gibson TJ, Ramu C, Gemund C, Aasland R (1998) The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor. Trends Biochem Sci 23:242-244
    • (1998) Trends Biochem Sci , vol.23 , pp. 242-244
    • Gibson, T.J.1    Ramu, C.2    Gemund, C.3    Aasland, R.4
  • 13
    • 0030986236 scopus 로고    scopus 로고
    • A signature motif in transcriptional co-activators mediates binding to nuclear receptors
    • Heery DM, Kalkhoven E, Hoare S, Parker MG (1997) A signature motif in transcriptional co-activators mediates binding to nuclear receptors. Nature 387:733-736
    • (1997) Nature , vol.387 , pp. 733-736
    • Heery, D.M.1    Kalkhoven, E.2    Hoare, S.3    Parker, M.G.4
  • 16
    • 0033525169 scopus 로고    scopus 로고
    • A perfect message: RNA surveillance and nonsense-mediated decay
    • Hentze MW, Kulozik AE (1999) A perfect message: RNA surveillance and nonsense-mediated decay. Cell 96:307-310
    • (1999) Cell , vol.96 , pp. 307-310
    • Hentze, M.W.1    Kulozik, A.E.2
  • 18
    • 0033525191 scopus 로고    scopus 로고
    • A testis-specific androgen receptor coregulator that belongs to a novel family of nuclear proteins
    • Moilanen A-M, Karvonen U, Poukka H, Yan W, Toppari J, Jänne O, Palvimo JJ (1999) A testis-specific androgen receptor coregulator that belongs to a novel family of nuclear proteins. J Biol Chem 274:3700-3704
    • (1999) J Biol Chem , vol.274 , pp. 3700-3704
    • Moilanen, A.-M.1    Karvonen, U.2    Poukka, H.3    Yan, W.4    Toppari, J.5    Jänne, O.6    Palvimo, J.J.7
  • 21
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 22
    • 0032470812 scopus 로고    scopus 로고
    • A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1
    • Pearce SH, Cheetham T, Imrie H, Vaidya B, Barnes ND, Bilous RW, Carr D, et al (1998) A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. Am J Hum Genet 63:1675-1684
    • (1998) Am J Hum Genet , vol.63 , pp. 1675-1684
    • Pearce, S.H.1    Cheetham, T.2    Imrie, H.3    Vaidya, B.4    Barnes, N.D.5    Bilous, R.W.6    Carr, D.7
  • 23
    • 0032924111 scopus 로고    scopus 로고
    • AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: Altered sub-cellular distribution of mutants lacking the PHD zinc fingers
    • Rinderle C, Christensen HM, Schweiger S, Lehrach H, Yaspo ML (1999) AIRE encodes a nuclear protein co-localizing with cytoskeletal filaments: altered sub-cellular distribution of mutants lacking the PHD zinc fingers. Hum Mol Genet 8:277-290
    • (1999) Hum Mol Genet , vol.8 , pp. 277-290
    • Rinderle, C.1    Christensen, H.M.2    Schweiger, S.3    Lehrach, H.4    Yaspo, M.L.5
  • 24
    • 0031753977 scopus 로고    scopus 로고
    • A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients
    • Rosatelli MC, Meloni A, Meloni A, Devoto M, Cao A, Scott HS, Peterson P, et al (1998) A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum Genet 103:428-434
    • (1998) Hum Genet , vol.103 , pp. 428-434
    • Rosatelli, M.C.1    Meloni, A.2    Meloni, A.3    Devoto, M.4    Cao, A.5    Scott, H.S.6    Peterson, P.7
  • 25
    • 0032230236 scopus 로고    scopus 로고
    • Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins
    • Scott HS, Heino M, Peterson P, Mittaz L, Lalioti MD, Betterle C, Cohen A, et al (1998) Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. Mol Endocrinol 12:1112-1119
    • (1998) Mol Endocrinol , vol.12 , pp. 1112-1119
    • Scott, H.S.1    Heino, M.2    Peterson, P.3    Mittaz, L.4    Lalioti, M.D.5    Betterle, C.6    Cohen, A.7
  • 26
    • 0032560477 scopus 로고    scopus 로고
    • Interaction of SP100 with HP1 proteins: A link between the promyelocytic leukemia-associated nuclear bodies and the chromatin compartment
    • Seeler JS, Marchio A, Sitterlin D, Transy C, Dejean A (1998) Interaction of SP100 with HP1 proteins: a link between the promyelocytic leukemia-associated nuclear bodies and the chromatin compartment. Proc Natl Acad Sci USA 95:7316-7321
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 7316-7321
    • Seeler, J.S.1    Marchio, A.2    Sitterlin, D.3    Transy, C.4    Dejean, A.5
  • 27
    • 0000976047 scopus 로고
    • Amino terminus of the yeast GAL4 gene product is sufficient for nuclear localization
    • Silver PA, Keegan LP, Ptashine M (1984) Amino terminus of the yeast GAL4 gene product is sufficient for nuclear localization. Proc Natl Acad Sci USA 81:5951-5955
    • (1984) Proc Natl Acad Sci USA , vol.81 , pp. 5951-5955
    • Silver, P.A.1    Keegan, L.P.2    Ptashine, M.3
  • 28
    • 0025268284 scopus 로고
    • SVpoly: A versatile mammalian expression vector
    • Stacey A, Schnieke A (1990) SVpoly: a versatile mammalian expression vector. Nucleic Acids Res 18:2829
    • (1990) Nucleic Acids Res , vol.18 , pp. 2829
    • Stacey, A.1    Schnieke, A.2
  • 30
    • 0033617169 scopus 로고    scopus 로고
    • The nuclear dot protein sp100, characterization of domains necessary for dimerization, subcellular localization, and modification by small ubiquitin-like modifiers
    • Sternsdorf T, Jensen K, Reich B, Will H (1999) The nuclear dot protein sp100, characterization of domains necessary for dimerization, subcellular localization, and modification by small ubiquitin-like modifiers. J Biol Chem 274:12555-12566
    • (1999) J Biol Chem , vol.274 , pp. 12555-12566
    • Sternsdorf, T.1    Jensen, K.2    Reich, B.3    Will, H.4
  • 31
    • 0024437865 scopus 로고
    • Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism
    • Syvanen AC, Aalto-Setala K, Kontula K, Soderlund H (1989) Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism. FEBS Lett 258:71-74
    • (1989) Febs Lett , vol.258 , pp. 71-74
    • Syvanen, A.C.1    Aalto-Setala, K.2    Kontula, K.3    Soderlund, H.4
  • 32
    • 0027400665 scopus 로고
    • Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing
    • Syvanen AC, Sajantila A, Lukka M (1993) Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing. Am J Hum Genet 52:46-59
    • (1993) Am J Hum Genet , vol.52 , pp. 46-59
    • Syvanen, A.C.1    Sajantila, A.2    Lukka, M.3
  • 34
    • 0032421986 scopus 로고    scopus 로고
    • Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1)
    • Wang CY, Davoodi-Semiromi A, Huang W, Connor E, Shi JD, She JX (1998) Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1). Hum Genet 103:681-685
    • (1998) Hum Genet , vol.103 , pp. 681-685
    • Wang, C.Y.1    Davoodi-Semiromi, A.2    Huang, W.3    Connor, E.4    Shi, J.D.5    She, J.X.6
  • 35
    • 0033082263 scopus 로고    scopus 로고
    • Cloning of Aire, the mouse homologue of the autoimmune regulator (AIRE) gene responsible for autoimmune polyglandular syndrome type 1 (APS1)
    • Wang CY, Shi JD, Davoodi-Semiromi A, She JX (1999) Cloning of Aire, the mouse homologue of the autoimmune regulator (AIRE) gene responsible for autoimmune polyglandular syndrome type 1 (APS1). Genomics 55:322-326
    • (1999) Genomics , vol.55 , pp. 322-326
    • Wang, C.Y.1    Shi, J.D.2    Davoodi-Semiromi, A.3    She, J.X.4
  • 36
    • 0028149366 scopus 로고
    • Convenient single-step, one tube purification of PCR products for direct sequencing
    • Werle E, Schneider C, Renner M, Volker M, Fiehn W (1994) Convenient single-step, one tube purification of PCR products for direct sequencing. Nucleic Acids Res 22:4354-4355
    • (1994) Nucleic Acids Res , vol.22 , pp. 4354-4355
    • Werle, E.1    Schneider, C.2    Renner, M.3    Volker, M.4    Fiehn, W.5
  • 37
    • 0031687519 scopus 로고    scopus 로고
    • Peak height pattern in dichloro-rhodamine and energy transfer dye terminator sequencing
    • 412-414
    • Zakeri H, Amparo G, Chen SM, Spurgeon S, Kwok PY (1998) Peak height pattern in dichloro-rhodamine and energy transfer dye terminator sequencing. Biotechniques 25:406-410, 412-414
    • (1998) Biotechniques , vol.25 , pp. 406-410
    • Zakeri, H.1    Amparo, G.2    Chen, S.M.3    Spurgeon, S.4    Kwok, P.Y.5
  • 38
    • 0026481974 scopus 로고
    • Polyglandular autoimmune syndrome type I among Iranian Jews
    • Zlotogora J, Shapiro MS (1992) Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet 29:824-826
    • (1992) J Med Genet , vol.29 , pp. 824-826
    • Zlotogora, J.1    Shapiro, M.S.2


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