Article: Absence of NPM1 promoter hypermethylation in human myelodysplastic syndrome

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TitleAbsence of NPM1 promoter hypermethylation in human myelodysplastic syndrome
AuthorsCheng, YY1 2
Chau, D2
Chan, T2
Gill, H2
Liang, R2
Kwong, YL2
Tse, E2
Issue Date2010
PublisherB M J Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/
CitationJournal Of Clinical Pathology, 2010, v. 63 n. 11, p. 1008-1011 [How to Cite?]
DOI: http://dx.doi.org/10.1136/jcp.2010.080465
AbstractNpm1 +/- heterozygous mice develop a haematological disorder with features resembling human myelodysplastic syndrome (MDS). Promoter hypermethylation of the NPM1 gene may lead to suppressed gene transcription and hence functional haploinsufficiency, which contributes to the development of MDS. Thirty-one patients with MDS and eight normal individuals were studied for promoter methylation and mRNA expression of NPM1. Methylation-specific PCR (MSP), COBRA and bisulfite sequencing were used to examine the NPM1 methylation status. Quantitative PCR was used to assess the expression of NPM1. NPM1 DNA methylation was rare, occurring in one of 31 cases as determined by MSP. There was no significant difference in NPM1 mRNA expression between MDS and normal blood samples. In conclusion, the finding suggests that NPM1 methylation is rare in MDS and does not play a major role in its pathogenesis.
ISSN0021-9746
2011 Impact Factor: 2.306
2011 SCImago Journal Rankings: 0.236
DOIhttp://dx.doi.org/10.1136/jcp.2010.080465
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorCheng, YY
dc.contributor.authorChau, D
dc.contributor.authorChan, T
dc.contributor.authorGill, H
dc.contributor.authorLiang, R
dc.contributor.authorKwong, YL
dc.contributor.authorTse, E
dc.date.accessioned2012-09-05T05:30:19Z
dc.date.available2012-09-05T05:30:19Z
dc.date.issued2010
dc.description.abstractNpm1 +/- heterozygous mice develop a haematological disorder with features resembling human myelodysplastic syndrome (MDS). Promoter hypermethylation of the NPM1 gene may lead to suppressed gene transcription and hence functional haploinsufficiency, which contributes to the development of MDS. Thirty-one patients with MDS and eight normal individuals were studied for promoter methylation and mRNA expression of NPM1. Methylation-specific PCR (MSP), COBRA and bisulfite sequencing were used to examine the NPM1 methylation status. Quantitative PCR was used to assess the expression of NPM1. NPM1 DNA methylation was rare, occurring in one of 31 cases as determined by MSP. There was no significant difference in NPM1 mRNA expression between MDS and normal blood samples. In conclusion, the finding suggests that NPM1 methylation is rare in MDS and does not play a major role in its pathogenesis.
dc.description.natureLink_to_subscribed_fulltext
dc.identifier.citationJournal Of Clinical Pathology, 2010, v. 63 n. 11, p. 1008-1011 [How to Cite?]
DOI: http://dx.doi.org/10.1136/jcp.2010.080465
dc.identifier.doihttp://dx.doi.org/10.1136/jcp.2010.080465
dc.identifier.epage1011
dc.identifier.hkuros207911
dc.identifier.issn0021-9746
2011 Impact Factor: 2.306
2011 SCImago Journal Rankings: 0.236
dc.identifier.issue11
dc.identifier.pmid20924036
dc.identifier.scopuseid_2-s2.0-78149359076
dc.identifier.spage1008
dc.identifier.urihttp://hdl.handle.net/10722/163343
dc.identifier.volume63
dc.languageeng
dc.publisherB M J Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/
dc.publisher.placeUnited Kingdom
dc.relation.ispartofJournal of Clinical Pathology
dc.relation.referencesReferences in Scopus
dc.subject.meshAdult
dc.subject.meshAged
dc.subject.meshAged, 80 And Over
dc.subject.meshDna Methylation
dc.subject.meshFemale
dc.subject.meshGene Expression
dc.subject.meshGenetic Predisposition To Disease
dc.subject.meshHaploinsufficiency
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.subject.meshMyelodysplastic Syndromes - Genetics - Metabolism
dc.subject.meshNuclear Proteins - Biosynthesis - Genetics
dc.subject.meshPromoter Regions, Genetic - Genetics
dc.subject.meshRna, Messenger - Genetics
dc.subject.meshReverse Transcriptase Polymerase Chain Reaction - Methods
dc.subject.meshYoung Adult
dc.titleAbsence of NPM1 promoter hypermethylation in human myelodysplastic syndrome
dc.typeArticle
Author Affiliations
  1. University of Sydney
  2. The University of Hong Kong