Altered DNA methylation in leukocytes with trisomy 21.

Autor: Kristi Kerkel, Nicole Schupf, Kota Hatta, Deborah Pang, Martha Salas, Alexander Kratz, Mark Minden, Vundavalli Murty, Warren B Zigman, Richard P Mayeux, Edmund C Jenkins, Ali Torkamani, Nicholas J Schork, Wayne Silverman, B Anne Croy, Benjamin Tycko
Jazyk: angličtina
Rok vydání: 2010
Předmět:
Zdroj: PLoS Genetics, Vol 6, Iss 11, p e1001212 (2010)
Druh dokumentu: article
ISSN: 1553-7390
1553-7404
DOI: 10.1371/journal.pgen.1001212
Popis: 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
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