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Blood, 1 April 2004, Vol. 103, No. 7, pp. 2498-2503. Prepublished online as a Blood First Edition Paper on November 20, 2003; DOI 10.1182/blood-2003-08-2915. This Article Full Text Full Text (PDF) All Versions of this Article: 2003-08-2915v1 103/7/2498    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Levitus, M. Articles by Joenje, H. Search for Related Content PubMed PubMed Citation Articles by Levitus, M. Articles by Joenje, H. Related Collections Hematopoiesis and Stem Cells Red Cells Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMATOPOIESIS Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes Marieke Levitus, Martin A. Rooimans, Jûrgen Steltenpool, Nicolle F. C. Cool, Anneke B. Oostra, Christopher G. Mathew, Maureen E. Hoatlin, Quinten Waisfisz, Fré Arwert, Johan P. de Winter, and Hans Joenje From the Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, the Netherlands; the Division of Genetics and Development, GKT School of Medicine, Guy's Hospital, London, United Kingdom; and the Division of Molecular Medicine & Molecular and Medical Genetics, Portland, OR. Fanconi anemia (FA) is an autosomal recessive syndrome featuring diverse symptoms including progressive bone marrow failure and early occurrence of acute myeloid leukemia. Nine genetic subtypes have been described for FA (A, B, C, D1, D2, E, F, G, and L), all of which have been connected to distinct disease genes, except B. Here we report on 8 unrelated FA patients who were excluded from the known subtypes on the basis of phenotypic correction or genetic data. Four of these cell lines failed to complement each other in somatic cell hybrids and therefore represent a new group, termed FA-I. The remaining cell lines complemented group FA-I but did not complement each other, thus representing a second new group, FA-J. Both FA-I and -J cell lines were capable of forming an FA multiprotein core complex. This complex is required for activation of the FANCD2 protein by mono-ubiquitination, a key downstream event in the FA pathway. In FA-I cells FANCD2 was not mono-ubiquitinated, indicating a defect upstream in the FA pathway, whereas in FA-J cells FANCD2 was mono-ubiquitinated, indicating a downstream defect. Our results suggest that the FA pathway of genome stabilization may be controlled by at least 11 different genes, including FANCI and FANCJ. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: Fanconi anemia: now we are 11 Eric Nisbet-Brown Blood 2004 103: 2435. [Full Text] [PDF] This article has been cited by other articles: S. Longerich, J. San Filippo, D. Liu, and P. Sung FANCI Binds Branched DNA and Is Monoubiquitinated by UBE2T-FANCL J. Biol. Chem., August 28, 2009; 284(35): 23182 - 23186. [Abstract] [Full Text] [PDF] J. Antonio Casado, E. Callen, A. Jacome, P. Rio, M. Castella, S. Lobitz, T. Ferro, A. Munoz, J. Sevilla, A. Cantalejo, et al. A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network J. Med. Genet., April 1, 2007; 44(4): 241 - 249. [Abstract] [Full Text] [PDF] S. Seki, M. Ohzeki, A. Uchida, S. Hirano, N. Matsushita, H. 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Clapp Continuous in vivo infusion of interferon-gamma (IFN-{gamma}) preferentially reduces myeloid progenitor numbers and enhances engraftment of syngeneic wild-type cells in Fancc-/- mice Blood, August 15, 2004; 104(4): 1204 - 1209. [Abstract] [Full Text] [PDF] A. Thomashevski, A. A. High, M. Drozd, J. Shabanowitz, D. F. Hunt, P. A. Grant, and G. M. Kupfer The Fanconi Anemia Core Complex Forms Four Complexes of Different Sizes in Different Subcellular Compartments J. Biol. Chem., June 18, 2004; 279(25): 26201 - 26209. [Abstract] [Full Text] [PDF] S. Hussain, J. B. Wilson, A. L. Medhurst, J. Hejna, E. Witt, S. Ananth, A. Davies, J.-Y. Masson, R. Moses, S. C. West, et al. Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways Hum. Mol. Genet., June 15, 2004; 13(12): 1241 - 1248. [Abstract] [Full Text] [PDF] J. Surralles, S. P. Jackson, M. Jasin, M. B. Kastan, S. C. West, and H. 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