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Molecular and Cellular Biology Volume 21, 2001 - Issue 16
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Transcriptional Regulation

Analysis of Ankyrin Repeats Reveals How a Single Point Mutation in RFXANK Results in Bare Lymphocyte Syndrome

Nada NekrepDepartments of Medicine, Microbiology, and Immunology, Howard Hughes Medical Institute, University of California, San Francisco, California94143-0703
,
Matthias GeyerDepartments of Medicine, Microbiology, and Immunology, Howard Hughes Medical Institute, University of California, San Francisco, California94143-0703
,
Nabila Jabrane-FerratDepartments of Medicine, Microbiology, and Immunology, Howard Hughes Medical Institute, University of California, San Francisco, California94143-0703
&
B. Matija PeterlinDepartments of Medicine, Microbiology, and Immunology, Howard Hughes Medical Institute, University of California, San Francisco, California94143-0703Correspondence[email protected]
Pages 5566-5576 | Received 25 Jan 2001, Accepted 10 May 2001, Published online: 28 Mar 2023

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Michal Krawczyk, Krzysztof Masternak, Madeleine Zufferey, Emmanuèle Barras & Walter Reith. (2005) New Functions of the Major Histocompatibility Complex Class II-Specific Transcription Factor RFXANK Revealed by a High-Resolution Mutagenesis Study. Molecular and Cellular Biology 25:19, pages 8607-8618.
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Nabila Jabrane-Ferrat, Nada Nekrep, Giovanna Tosi, Laura J. Esserman & B. Matija Peterlin. (2002) Major Histocompatibility Complex Class II Transcriptional Platform: Assembly of Nuclear Factor Y and Regulatory Factor X (RFX) on DNA Requires RFX5 Dimers. Molecular and Cellular Biology 22:15, pages 5616-5625.
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Matylda Anna Izert, Patrycja Emanuela Szybowska, Maria Wiktoria Górna & Matthew Merski. (2021) The Effect of Mutations in the TPR and Ankyrin Families of Alpha Solenoid Repeat Proteins. Frontiers in Bioinformatics 1.
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Jeremy Forsberg, Xinge Li, Birce Akpinar, Roger Salvatori, Martin Ott, Boris Zhivotovsky & Magnus Olsson. (2018) A caspase-2-RFXANK interaction and its implication for MHC class II expression. Cell Death & Disease 9:2.
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Torsten B. Meissner, Yuen-Joyce Liu, Kyoung-Hee Lee, Amy Li, Amlan Biswas, Marja C. J. A. van Eggermond, Peter J. van den Elsen & Koichi S. Kobayashi. (2012) NLRC5 Cooperates with the RFX Transcription Factor Complex To Induce MHC Class I Gene Expression. The Journal of Immunology 188:10, pages 4951-4958.
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Monia OuederniQuentin B. VincentPierre FrangeFabien TouzotSami ScerraMohamed BejaouiAziz BousfihaYves LevyBarbara Lisowska-GrospierreDanielle CanioniJulie BruneauMarianne DebréStéphane BlancheLaurent AbelJean-Laurent Casanova, Alain FischerCapucine Picard. (2011) Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. Blood 118:19, pages 5108-5118.
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Kholiswa M. Laird, LaTese L. Briggs, Jeremy M. Boss, Michael F. Summers & Colin W. Garvie. (2010) Solution Structure of the Heterotrimeric Complex between the Interaction Domains of RFX5 and RFXAP from the RFX Gene Regulatory Complex. Journal of Molecular Biology 403:1, pages 40-51.
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Madhumita Chakraborty, Amitava Sengupta, Dipankar Bhattacharya, Subrata Banerjee & Abhijit Chakrabarti. (2010) DNA binding domain of RFX5: Interactions with X-box DNA and RFXANK. Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics 1804:10, pages 2016-2024.
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Hamid Naamane, Ouafaa El Maataoui, Fatima Ailal, Abdelhamid Barakat, Siham Bennani, Jilali Najib, Mohammed Hassar, Rachid Saile & Ahmed Aziz Bousfiha. (2010) The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population. European Journal of Pediatrics 169:9, pages 1069-1074.
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LaTese Briggs, Kholiswa Laird, Jeremy M. Boss & Colin W. Garvie. (2009) Formation of the RFX gene regulatory complex induces folding of the interaction domain of RFXAP. Proteins: Structure, Function, and Bioinformatics 76:3, pages 655-664.
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Colin W. Garvie & Jeremy M. Boss. (2008) Assembly of the RFX complex on the MHCII promoter: Role of RFXAP and RFXB in relieving autoinhibition of RFX5. Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms 1779:12, pages 797-804.
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Lilien N. Voong, Allison R. Slater, Sebila Kratovac & Drew E. Cressman. (2008) Mitogen-activated Protein Kinase ERK1/2 Regulates the Class II Transactivator. Journal of Biological Chemistry 283:14, pages 9031-9039.
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D. A. Voronin & E. V. Kiseleva. (2008) Functional role of proteins containing ankyrin repeats. Cell and Tissue Biology 2:1, pages 1-12.
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Wee M. Yeo & Vincent T.K. Chow. (2007) The VP1 structural protein of enterovirus 71 interacts with human ornithine decarboxylase and gene trap ankyrin repeat. Microbial Pathogenesis 42:4, pages 129-137.
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M. Krawczyk & W. Reith. (2006) Regulation of MHC class II expression, a unique regulatory system identified by the study of a primary immunodeficiency disease. Tissue Antigens 67:3, pages 183-197.
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Hua Lu, Yang Liu & Jean T. Greenberg. (2005) Structure-function analysis of the plasma membrane- localized Arabidopsis defense component ACD6. The Plant Journal 44:5, pages 798-809.
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Audrey H. Wang, Serge Grégoire, Eleni Zika, Lin Xiao, Cathy S. Li, Hongwei Li, Kenneth L. Wright, Jenny P. Ting & Xiang-Jiao Yang. (2005) Identification of the Ankyrin Repeat Proteins ANKRA and RFXANK as Novel Partners of Class IIa Histone Deacetylases. Journal of Biological Chemistry 280:32, pages 29117-29127.
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Alyssa Bushey Long & Jeremy M. Boss. (2005) Evolutionary conservation and characterization of the bare lymphocyte syndrome transcription factor RFX-B and its paralogue ANKRA2. Immunogenetics 56:11, pages 788-797.
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Betania F. Quirino, Ruth Genger, Jong Hyun Ham, Gracia Zabala & Andrew F. Bent. (2004) Identification and functional analysis of Arabidopsis proteins that interact with resistance gene product RPS2 in yeast. Physiological and Molecular Plant Pathology 65:5, pages 257-267.
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Leila K. Mosavi, Tobin J. Cammett, Daniel C. Desrosiers & Zheng-yu Peng. (2004) The ankyrin repeat as molecular architecture for protein recognition. Protein Science 13:6, pages 1435-1448.
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Thomas Prod’homme, Benjamin Dekel, Giovanna Barbieri, Barbara Lisowska-Grospierre, Rina Katz, Dominique Charron, Catherine Alcaide-Loridan & Shimon Pollack. (2003) Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course. Immunogenetics 55:8, pages 530-539.
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Tien-Shun Yeh, Yu-Min Lin, Rong-Hong Hsieh & Min-Jen Tseng. (2003) Association of Transcription Factor YY1 with the High Molecular Weight Notch Complex Suppresses the Transactivation Activity of Notch. Journal of Biological Chemistry 278:43, pages 41963-41969.
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Nada Nekrep, Joseph D Fontes, Matthias Geyer & B.Matija Peterlin. (2003) When the Lymphocyte Loses Its Clothes. Immunity 18:4, pages 453-457.
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Franck Matheux, Aydan Ikinciogullari, David A. Zapata, Emmanuèle Barras, Madeleine Zufferey, Figen Dogu, José R. Regueiro, Walter Reith & Jean Villard. (2002) Direct Genetic Correction as a New Method for Diagnosis and Molecular Characterization of MHC Class II Deficiency. Molecular Therapy 6:6, pages 824-829.
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Santasabuj Das, Jun-Hsiang Lin, Joseph Papamatheakis, Yuri Sykulev & Philip N. Tsichlis. (2002) Differential Splicing Generates Tvl-1/RFXANK Isoforms with Different Functions. Journal of Biological Chemistry 277:47, pages 45172-45180.
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Nada Nekrep, Nabila Jabrane-Ferrat, Hermann M. Wolf, Martha M. Eibl, Matthias Geyer & B. Matija Peterlin. (2002) Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome. Nature Immunology 3:11, pages 1075-1081.
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Jenny Pan-Yun Ting & John Trowsdale. (2002) Genetic Control of MHC Class II Expression. Cell 109:2, pages S21-S33.
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