NDLI: The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q

Content Provider	PubMed Central
Author	Borkhardt, Arndt Bojesen, Stig Haas, Oskar A. Fuchs, Uta Bartelheimer, Dominique Loncarevic, Ivan F. Bohle, Rainer M. Harbott, Jochen Repp, Reinald Jaeger, Ulrich Viehmann, Susanne Henn, Traudl Korth, Petra Scharr, Dirk Lampert, Fritz
Copyright Year	2000
Abstract	We have isolated the human GRAF gene (for GTPase regulator associated with the focal adhesion kinase pp125FAK). This gene was fused with MLL in a unique t(5;11)(q31;q23) that occurred in an infant with juvenile myelomonocytic leukemia. GRAF encodes a member of the Rho family of the GTPase-activating protein (GAP) family. On the protein level, it is 90% homologous to the recently described chicken GRAF gene that functions as a GAP of RhoA in vivo and is thus a critical component of the integrin signaling transduction pathway. The particular position of the human GRAF gene at 5q31 and the proposed antiproliferative and tumor suppressor properties of its avian homologue suggest that it also might be pathogenetically relevant for hematologic malignancies with deletions of 5q. To investigate this possibility, we sequenced 4–5 individual cDNA clones from 13 cases in which one allele of GRAF was deleted. We found point mutations within the GAP domain of the second GRAF allele in one patient. In two additional patients we found an insertion of 52 or 74 bp within the GRAF cDNA that generates a reading frame shift followed by a premature stop codon. GRAF maps outside the previously defined commonly deleted 5q31 region. Nevertheless, inactivation of both alleles in at least some cases suggests that deletions and mutations of the GRAF gene may be instrumental in the development and progression of hematopoeitic disorders with a del(5q).
Related Links	http://dx.doi.org/10.1073/pnas.150079597
Ending Page	9173
Page Count	6
Starting Page	9168
File Format	PDF
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	16
Volume Number	97
Language	English
Publisher	The National Academy of Sciences
Publisher Date	2000-08-01
Access Restriction	Open
Rights Holder	The National Academy of Sciences
Subject Keyword	General Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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