Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation

2.50
Hdl Handle:
http://hdl.handle.net/2336/67623
Title:
Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation
Authors:
Milani, Lili; Lundmark, Anders; Nordlund, Jessica; Kiialainen, Anna; Flaegstad, Trond; Jonmundsson, Gudmundur; Kanerva, Jukka; Schmiegelow, Kjeld; Gunderson, Kevin L; Lönnerholm, Gudmar; Syvänen, Ann-Christine
Citation:
Genome Res. 2009, 19(1):1-11
Issue Date:
1-Jan-2009
Abstract:
To identify genes that are regulated by cis-acting functional elements in acute lymphoblastic leukemia (ALL) we determined the allele-specific expression (ASE) levels of 2, 529 genes by genotyping a genome-wide panel of single nucleotide polymorphisms in RNA and DNA from bone marrow and blood samples of 197 children with ALL. Using a reproducible, quantitative genotyping method and stringent criteria for scoring ASE, we found that 16% of the analyzed genes display ASE in multiple ALL cell samples. For most of the genes, the level of ASE varied largely between the samples, from 1.4-fold overexpression of one allele to apparent monoallelic expression. For genes exhibiting ASE, 55% displayed bidirectional ASE in which overexpression of either of the two SNP alleles occurred. For bidirectional ASE we also observed overall higher levels of ASE and correlation with the methylation level of these sites. Our results demonstrate that CpG site methylation is one of the factors that regulates gene expression in ALL cells.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://genome.cshlp.org/content/19/1/1.abstract

Full metadata record

DC FieldValue Language
dc.contributor.authorMilani, Lili-
dc.contributor.authorLundmark, Anders-
dc.contributor.authorNordlund, Jessica-
dc.contributor.authorKiialainen, Anna-
dc.contributor.authorFlaegstad, Trond-
dc.contributor.authorJonmundsson, Gudmundur-
dc.contributor.authorKanerva, Jukka-
dc.contributor.authorSchmiegelow, Kjeld-
dc.contributor.authorGunderson, Kevin L-
dc.contributor.authorLönnerholm, Gudmar-
dc.contributor.authorSyvänen, Ann-Christine-
dc.date.accessioned2009-05-08T09:29:36Z-
dc.date.available2009-05-08T09:29:36Z-
dc.date.issued2009-01-01-
dc.date.submitted2009-05-08-
dc.identifier.citationGenome Res. 2009, 19(1):1-11en
dc.identifier.issn1088-9051-
dc.identifier.pmid18997001-
dc.identifier.doi10.1101/gr.083931.108-
dc.identifier.urihttp://hdl.handle.net/2336/67623-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractTo identify genes that are regulated by cis-acting functional elements in acute lymphoblastic leukemia (ALL) we determined the allele-specific expression (ASE) levels of 2, 529 genes by genotyping a genome-wide panel of single nucleotide polymorphisms in RNA and DNA from bone marrow and blood samples of 197 children with ALL. Using a reproducible, quantitative genotyping method and stringent criteria for scoring ASE, we found that 16% of the analyzed genes display ASE in multiple ALL cell samples. For most of the genes, the level of ASE varied largely between the samples, from 1.4-fold overexpression of one allele to apparent monoallelic expression. For genes exhibiting ASE, 55% displayed bidirectional ASE in which overexpression of either of the two SNP alleles occurred. For bidirectional ASE we also observed overall higher levels of ASE and correlation with the methylation level of these sites. Our results demonstrate that CpG site methylation is one of the factors that regulates gene expression in ALL cells.en
dc.language.isoenen
dc.publisherCold Spring Harbor Laboratory Pressen
dc.relation.urlhttp://genome.cshlp.org/content/19/1/1.abstracten
dc.subject.meshAdolescenten
dc.subject.meshAllelesen
dc.subject.meshChilden
dc.subject.meshChild, Preschoolen
dc.subject.meshCpG Islandsen
dc.subject.meshDNA Methylationen
dc.subject.meshDNA, Neoplasmen
dc.subject.meshGene Expressionen
dc.subject.meshHumansen
dc.subject.meshInfanten
dc.subject.meshPolymorphism, Single Nucleotideen
dc.subject.meshPrecursor Cell Lymphoblastic Leukemia-Lymphomaen
dc.subject.meshRNA, Neoplasmen
dc.subject.meshTumor Cells, Cultureden
dc.titleAllele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylationen
dc.typeArticleen
dc.contributor.departmentMolecular Medicine, Department of Medical Sciences, Uppsala University, 75185 Uppsala, Sweden.en
dc.identifier.journalGenome researchen

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