Alu-repeat–induced deletions within the NCF2 gene causing p67- phox –deficient chronic granulomatous disease (CGD)
dc.contributor.author | Gentsch, Marcus | en_US |
dc.contributor.author | Kaczmarczyk, Aneta | en_US |
dc.contributor.author | van Leeuwen, Karin | en_US |
dc.contributor.author | de Boer, Martin | en_US |
dc.contributor.author | Kaus-Drobek, Magdalena | en_US |
dc.contributor.author | Dagher, Marie-Claire | en_US |
dc.contributor.author | Kaiser, Petra | en_US |
dc.contributor.author | Arkwright, Peter D. | en_US |
dc.contributor.author | Gahr, Manfred | en_US |
dc.contributor.author | Rösen-Wolff, Angela | en_US |
dc.contributor.author | Bochtler, Matthias | en_US |
dc.contributor.author | Secord, Elizabeth | en_US |
dc.contributor.author | Britto-Williams, Pamela | en_US |
dc.contributor.author | Saifi, Gulam Mustafa | en_US |
dc.contributor.author | Maddalena, Anne | en_US |
dc.contributor.author | Dbaibo, Ghassan | en_US |
dc.contributor.author | Bustamante, Jacinta | en_US |
dc.contributor.author | Casanova, Jean-Laurent | en_US |
dc.contributor.author | Roos, Dirk | en_US |
dc.contributor.author | Roesler, Joachim | en_US |
dc.date.accessioned | 2010-02-02T15:30:24Z | |
dc.date.available | 2011-03-01T16:26:43Z | en_US |
dc.date.issued | 2010-02 | en_US |
dc.identifier.citation | Gentsch, Marcus; Kaczmarczyk, Aneta; van Leeuwen, Karin; de Boer, Martin; Kaus-Drobek, Magdalena; Dagher, Marie-Claire; Kaiser, Petra; Arkwright, Peter D.; Gahr, Manfred; RÖsen-Wolff, Angela; Bochtler, Matthias; Secord, Elizabeth; Britto-Williams, Pamela; Saifi, Gulam Mustafa; Maddalena, Anne; Dbaibo, Ghassan; Bustamante, Jacinta; Casanova, Jean-Laurent; Roos, Dirk; Roesler, Joachim (2010). "Alu-repeat–induced deletions within the NCF2 gene causing p67- phox –deficient chronic granulomatous disease (CGD)." Human Mutation 31(2): 151-158. <http://hdl.handle.net/2027.42/64904> | en_US |
dc.identifier.issn | 1059-7794 | en_US |
dc.identifier.issn | 1098-1004 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/64904 | |
dc.description.abstract | Mutations that impair expression or function of the components of the phagocyte NADPH oxidase complex cause chronic granulomatous disease (CGD), which is associated with life-threatening infections and dysregulated granulomatous inflammation. In five CGD patients from four consanguineous families of two different ethnic backgrounds, we found similar genomic homozygous deletions of 1,380 bp comprising exon 5 of NCF2 , which could be traced to Alu-mediated recombination events. cDNA sequencing showed in-frame deletions of phase zero exon 5, which encodes one of the tandem repeat motifs in the tetratricopeptide (TPR4) domain of p67- phox . The resulting shortened protein (p67Δ5) had a 10-fold reduced intracellular half-life and was unable to form a functional NADPH oxidase complex. No dominant negative inhibition of oxidase activity by p67Δ5 was observed. We conclude that Alu-induced deletion of the TPR4 domain of p67- phox leads to loss of function and accelerated degradation of the protein, and thus represents a new mechanism causing p67- phox –deficient CGD. Hum Mutat 30:1–8, 2009. © 2009 Wiley-Liss, Inc. | en_US |
dc.format.extent | 384274 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Alu-repeat–induced deletions within the NCF2 gene causing p67- phox –deficient chronic granulomatous disease (CGD) | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationother | Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany ; Marcus Gentsch, Aneta Kaczmarczyk, Dirk Roos, and Joachim Roesler contributed equally to this work. | en_US |
dc.contributor.affiliationother | Structural Biology Laboratory, International Institute of Molecular and Cell Biology, Warszawa, Poland | en_US |
dc.contributor.affiliationother | Sanquin Research, Amsterdam, The Netherlands ; Karl Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands | en_US |
dc.contributor.affiliationother | Sanquin Research, Amsterdam, The Netherlands ; Karl Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands | en_US |
dc.contributor.affiliationother | Structural Biology Laboratory, International Institute of Molecular and Cell Biology, Warszawa, Poland ; Max-Planck-Institute for Molecular Cell Biology and Genetics, Dresden, Germany | en_US |
dc.contributor.affiliationother | Centre Diagnostic et Recherche CGD, TIM-C Imag, Centre National de la Recherche Scientifique (CNRS), UniversitÉ Joseph Fourier, Grenoble, France | en_US |
dc.contributor.affiliationother | Professor Hess Kinderklinik, Klinikum Bremen-Mitte, Bremen, Germany | en_US |
dc.contributor.affiliationother | Child Health, Division of Translational Medicine, University of Manchester, Manchester, United Kingdom | en_US |
dc.contributor.affiliationother | Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany | en_US |
dc.contributor.affiliationother | Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany | en_US |
dc.contributor.affiliationother | Structural Biology Laboratory, International Institute of Molecular and Cell Biology, Warszawa, Poland ; Max-Planck-Institute for Molecular Cell Biology and Genetics, Dresden, Germany | en_US |
dc.contributor.affiliationother | Allergy/Immunology Division, Children's Hospital of Michigan, Wayne State University, Detroit, Michigan | en_US |
dc.contributor.affiliationother | Allergy/Immunology Division, Children's Hospital of Michigan, Wayne State University, Detroit, Michigan | en_US |
dc.contributor.affiliationother | GeneDx, Gaithersburg, Maryland | en_US |
dc.contributor.affiliationother | GeneDx, Gaithersburg, Maryland | en_US |
dc.contributor.affiliationother | Department of Pediatrics, American University of Beirut-Medical Center, Beirut, Lebanon ; Department of Biochemistry, American University of Beirut-Medical Center, Beirut, Lebanon | en_US |
dc.contributor.affiliationother | Laboratory of Human Genetics of Infectious Diseases, Institut National de la SantÉ et de la Recherche MÉdicale, U550, Paris, France ; Paris RenÉ Descartes University, Necker Medical School, Paris, France | en_US |
dc.contributor.affiliationother | Laboratory of Human Genetics of Infectious Diseases, Institut National de la SantÉ et de la Recherche MÉdicale, U550, Paris, France ; Paris RenÉ Descartes University, Necker Medical School, Paris, France | en_US |
dc.contributor.affiliationother | Sanquin Research, Amsterdam, The Netherlands | en_US |
dc.contributor.affiliationother | Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany ; Dept. of Pediatrics, University Hospital Carl Gustav Carus, Fetscher Str. 74, 01307 Dresden, Germany | en_US |
dc.identifier.pmid | 19953534 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/64904/1/21156_ftp.pdf | |
dc.identifier.doi | 10.1002/humu.21156 | en_US |
dc.identifier.source | Human Mutation | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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