Altered DNA methylation in leukocytes with trisomy 21

The primary abnormality in Down syndrome (DS), trisomy 21, is well known; but how this chromosomal gain produces the complex DS phenotype, including immune system defects, is not well understood. We profiled DNA methylation in total peripheral blood leukocytes (PBL) and T-lymphocytes from adults wit...

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Bibliographic Details
Published in:PLoS genetics 2010-11, Vol.6 (11), p.e1001212
Main Authors: Kerkel, Kristi, Schupf, Nicole, Hatta, Kota, Pang, Deborah, Salas, Martha, Kratz, Alexander, Minden, Mark, Murty, Vundavalli, Zigman, Warren B, Mayeux, Richard P, Jenkins, Edmund C, Torkamani, Ali, Schork, Nicholas J, Silverman, Wayne, Croy, B Anne, Tycko, Benjamin
Format: Article
Language:English
Subjects:
Adult
Aging - genetics
Analysis
Azacitidine - pharmacology
Child
Child, Preschool
Deoxyribonucleic acid
DNA
DNA methylation
DNA Methylation - drug effects
DNA Methylation - genetics
Down syndrome
Down Syndrome - genetics
Gene Expression Profiling
Gene Expression Regulation - drug effects
Genes
Genetic aspects
Genetics
Genetics and Genomics
Genetics and Genomics/Chromosome Biology
Genetics and Genomics/Epigenetics
Genetics and Genomics/Genetics of Disease
Genetics and Genomics/Medical Genetics
Humans
Immune system
Infant
Jurkat Cells
Leukocyte Count
Leukocytes
Leukocytes - drug effects
Leukocytes - metabolism
Lymphocytes - drug effects
Lymphocytes - metabolism
Methylation
Nerve Tissue Proteins - genetics
Nerve Tissue Proteins - metabolism
Nod2 Signaling Adaptor Protein - genetics
Nod2 Signaling Adaptor Protein - metabolism
Oligonucleotide Array Sequence Analysis
Physiological aspects
Reproducibility of Results
RNA, Messenger - genetics
RNA, Messenger - metabolism
Sequence Analysis, DNA
Sulfites
Trisomy
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Summary:The primary abnormality in Down syndrome (DS), trisomy 21, is well known; but how this chromosomal gain produces the complex DS phenotype, including immune system defects, is not well understood. We profiled DNA methylation in total peripheral blood leukocytes (PBL) and T-lymphocytes from adults with DS and normal controls and found gene-specific abnormalities of CpG methylation in DS, with many of the differentially methylated genes having known or predicted roles in lymphocyte development and function. Validation of the microarray data by bisulfite sequencing and methylation-sensitive Pyrosequencing (MS-Pyroseq) confirmed strong differences in methylation (p
ISSN:1553-7404
1553-7390
1553-7404
DOI:10.1371/journal.pgen.1001212