NDLI: A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes.

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A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes.

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A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Choufani, Sanaa Shapiro, Jonathan S. Susiarjo, Martha Butcher, Darci T. Grafodatskaya, Daria Lou, Youliang Ferreira, Jose C. Pinto, Dalila Scherer, Stephen W. Shaffer, Lisa G. Coullin, Philippe Caniggia, Isabella Beyene, Joseph Slim, Rima Bartolomei, Marisa S. Weksberg, Rosanna
Description	Country affiliation: Canada Author Affiliation: Choufani S ( Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.)
Abstract	Imprinted genes are critical for normal human growth and neurodevelopment. They are characterized by differentially methylated regions (DMRs) of DNA that confer parent of origin-specific transcription. We developed a new strategy to identify imprinted gene-associated DMRs. Using genome-wide methylation profiling of sodium bisulfite modified DNA from normal human tissues of biparental origin, candidate DMRs were identified by selecting CpGs with methylation levels consistent with putative allelic differential methylation. In parallel, the methylation profiles of tissues of uniparental origin, i.e., paternally-derived androgenetic complete hydatidiform moles (AnCHMs), and maternally-derived mature cystic ovarian teratoma (MCT), were examined and then used to identify CpGs with parent of origin-specific DNA methylation. With this approach, we found known DMRs associated with imprinted genomic regions as well as new DMRs for known imprinted genes, NAP1L5 and ZNF597, and novel candidate imprinted genes. The paternally methylated DMR for one candidate, AXL, a receptor tyrosine kinase, was also validated in experiments with mouse embryos that demonstrated Axl was expressed preferentially from the maternal allele in a DNA methylation-dependent manner.
File Format	HTM / HTML
ISSN	10889051
e-ISSN	15495469
DOI	10.1101/gr.111922.110
Journal	Genome Research
Issue Number	3
Volume Number	21
Language	English
Publisher	Cold Spring Harbor Laboratory Press
Publisher Date	2011-03-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Discipline Genomics Genetics Genomic Imprinting Proto-oncogene Proteins Metabolism Receptor Protein-tyrosine Kinases Alleles Animals Cpg Islands Chemistry Dna Methylation Embryo, Mammalian Genetic Variation Genome Hydatidiform Mole Mice Microarray Analysis Molecular Sequence Data Nerve Tissue Proteins Ovarian Neoplasms Pregnancy Pregnancy Complications Sex Factors Sulfites Teratoma Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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