Unknown,Transcriptomics,Genomics,Proteomics

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Transcription profiling of human lymphoblastoid cell lines (LCLs) derived from ICF syndrome and normal individuals.


ABSTRACT: Genome-wide DNA methylation patterns are established and maintained by the coordinated action of three DNA methyltransferases, DNMT1, DNMT3A, and DNMT3B. DNMT3B hypomorphic germline mutations are responsible for two-thirds of Immunodeficiency, Centromere Instability, Facial Anomalies (ICF) syndrome cases. The molecular defects in transcription, DNA methylation, and chromatin structure in ICF cells remain relatively uncharacterized. We used expressing microarrays to define the global program of gene expression to elucidate the role of DNMT3B in these processes using EBV-immortalized lymphoblastoid cell lines (LCLs) derived from ICF syndrome and normal individuals. Experiment Overall Design: 5 Normal LCLs (GM08729, GM08728, LCL1, CM304 and CM774) and 3 ICF LCLs (4088,GM08714 and 10759) were selected for RNA extraction and hybridization on Affymetrix UU133A/B microarrays.

ORGANISM(S): Homo sapiens

SUBMITTER: bilian jin 

PROVIDER: E-GEOD-9499 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.

Jin Bilian B   Tao Qian Q   Peng Jinrong J   Soo Hui Meng HM   Wu Wei W   Ying Jianming J   Fields C Robert CR   Delmas Amber L AL   Liu Xuefeng X   Qiu Jingxin J   Robertson Keith D KD  

Human molecular genetics 20071120 5


Genome-wide DNA methylation patterns are established and maintained by the coordinated action of three DNA methyltransferases (DNMTs), DNMT1, DNMT3A and DNMT3B. DNMT3B hypomorphic germline mutations are responsible for two-thirds of immunodeficiency, centromere instability, facial anomalies (ICF) syndrome cases, a rare recessive disease characterized by immune defects, instability of pericentromeric satellite 2-containing heterochromatin, facial abnormalities and mental retardation. The molecula  ...[more]

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