2000
DOI: 10.1073/pnas.150079597
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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

Abstract: We have isolated the human GRAF gene (for GTPase regulator associated with the focal adhesion kinase pp125 FAK ). 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 tran… Show more

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Cited by 115 publications
(92 citation statements)
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References 35 publications
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“…So far, the fusion has been reported in only three cases, all resulting in similar clinical features (Borkhardt et al, 2000;Panagopoulos et al, 2004;Wilda et al, 2005). In the present study, we identify and characterise the regulative region of the GRAF gene.…”
Section: Discussionmentioning
confidence: 74%
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“…So far, the fusion has been reported in only three cases, all resulting in similar clinical features (Borkhardt et al, 2000;Panagopoulos et al, 2004;Wilda et al, 2005). In the present study, we identify and characterise the regulative region of the GRAF gene.…”
Section: Discussionmentioning
confidence: 74%
“…In previous studies, three out of 13 samples with loss of one 5q allele exhibited a disruption of the second GRAF allele by insertions (Borkhardt et al, 2000). Therefore, if GRAF has tumour-suppressing abilities, we assume that additional mutations or epigenetic modifications contribute to the malignant GP cgtcctcggg cggcctgagg gtcgggcagg ggagggtgcg ctgattggcc cggcggggat… UP cgtttttggg tggtttgagg gttgggtagg ggagggtgtg ttgattggtt tggtggggat… MP cgttttcggg cggtttgagg gtcgggtagg ggagggtgcg ttgattggtt cggcggggat… 2 ccttttccgg ccgtttgagg gtcgggtagg ggagggtgcg ttgattggtt cggcggggat… 3 ccttttccgg ccgtttgagg gtcgggtagg ggagggtgcg ttgattggtt cggcggggat… 4 ccttttccgg ccgtttgagg gtcgggtagg ggagggtgcg ttgattggtt cggcggggat… 5 ccttttccgg ccgtttgagg gtcgggtagg ggagggtgcg ttgattggtt cggcggggat… 6 ccttttccgg ccgtttgagg gtcgggtagg ggagggtgcg ttgattggtt cggcggggat… 15 ccttttccgg ccgtttgagg gtcgggcagg ggagggtgcg ttgattggtt cggcggggat… GP …taagtcatcg ctagcaggtt cgagcggccc agacaccggc ggggcggccg aggctgctgt gagagg UP …taagttattg ttagtaggtt tgagtggttt agatattggt ggggtggttg aggttgttgt gagagg MP …taagttatcg ttagtaggtt cgagcggttt agatatcggc ggggcggtcg aggttgttgt gagagg 2 …taagttatcg ttagtaggtt cgagcggttt agatatcggc ggggcggtcg aggttgttgt gagagg 3 …taagttatcg ttagtaggtt cgagcggttt agatatcggc ggggcggtcg aggttgttgt gagagg 4 …taagttatcg ttagtaggtt cgagcggttt agatatcggc ggggcggtcg aggttgttgt gagagg 5 …taagttatcg ttagtaggtt cgagcggttt agatatcggc ggggcggtcg aggttgttgt gagagg 6 …taagttattg ttagcaggtt cgagcggtct agatatcggc ggggcggtcg aggttgttgt gagagg 15 …taagttgtcg ttagtaggtt cgagcggttt agatatcggc ggggcggtcg aggttgttgt gagagg Table 2.…”
Section: Discussionunclassified
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“…DLC-1 gene deregulation in cancer cells is one of several examples of the involvement of Rho GAP genes in human cancer development. Among the others are GRAF, a tumor suppressor gene, which is deleted or mutated in myelodysplastic syndromes, and the p190-A gene, which is located in a region of deletion and recombination in gliomas and astrocytomas (Borkhardt et al, 2000;Tikoo et al, 2000).…”
Section: Discussionmentioning
confidence: 99%