0000000000217164

AUTHOR

Tom Shows

showing 2 related works from this author

Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations

1994

The genetics of Wilms' tumour (WT), a paediatric malignancy of the kidney, is complex. Inactivation of the tumour suppressor gene, WT1, is associated with tumour aetiology in approximately 10-15% of WTs. Chromosome 17p changes have been noted in cytogenetic studies of WTs, prompting us to screen 140 WTs for p53 mutations. When histopathology reports were available, p53 mutations were present in eight of eleven anaplastic WTs, a tumour subtype associated with poor prognosis. Amplification of MDM2, a gene whose product binds and sequesters p53, was excluded. Our results indicate that p53 alterations provide a molecular marker for anaplastic WTs.

MaleTumor suppressor geneDNA Mutational AnalysisMolecular Sequence DataGene mutationBiologyMalignancymedicine.disease_causePolymerase Chain ReactionWilms TumorProto-Oncogene ProteinsGeneticsmedicineHumansAmino Acid SequenceGeneAllelesMutationBase SequencefungiNuclear ProteinsCell DifferentiationProto-Oncogene Proteins c-mdm2Wilms' tumorGenes p53Prognosismedicine.diseaseKidney NeoplasmsNeoplasm ProteinsGene Expression Regulation Neoplasticbody regionsGenetic markerbiology.proteinCancer researchMdm2FemaleTumor Suppressor Protein p53Nature Genetics
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Functional characterization of human nucleosome assembly protein-2 (NAP1L4) suggests a role as a histone chaperone.

1997

Abstract Histones are thought to play a key role in regulating gene expression at the level of DNA packaging. Recent evidence suggests that transcriptional activation requires competition of transcription factors with histones for binding to regulatory regions and that there may be several mechanisms by which this is achieved. We have characterized a human nucleosome assembly protein, NAP-2, previously identified by positional cloning at 11p15.5, a region implicated in several disease processes including Wilms tumor (WT) etiology. The deduced amino acid sequence of NAP-2 indicates that it encodes a protein with a potential nuclear localization motif and two clusters of highly acidic residue…

NAP1L4DNA ComplementaryNucleosome assemblyPositional cloningMolecular Sequence DataMice NudeWilms TumorHistonesMicemental disordersGeneticsNucleosomeAnimalsHumansAmino Acid SequenceCloning MolecularRegulation of gene expressionbiologyBase Sequencemusculoskeletal neural and ocular physiologyfungiGene Transfer TechniquesNuclear ProteinsMolecular biologyRecombinant ProteinsChromatinCell biologyNucleosomesDNA-Binding ProteinsHistoneChaperone (protein)biology.proteinpsychological phenomena and processesMolecular ChaperonesProtein BindingSubcellular FractionsGenomics
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