DNA Methylation as a Marker of the Intra Uterine Environment
Poster May 05, 2011
Carolyn Banister, Devin Koestler, Matthew A. Maccani, E. Andres Houseman, James F. Padbury and Carmen J. Marsit
Using the Illumina Infinium Human Methylation27 BeadChip array, we examined genome-wide DNA methylation patterns in 206 term human placenta samples. Semi-supervised recursive-partitioned mixture modelling was employed to analyze data from a training series of placenta samples and identify methylation profiles associated with aberrant fetal growth.
A number of CpG loci were found to effectively differentially classify intrauterine growth restriction (IUGR) and small for gestational age (SGA) placentas from appropriate for gestation alage (AGA) placentas, and these associations were validated in a masked testing series of samples. Our work demonstrated that patterns of DNA methylation in human placenta are reliably and significantly associated with infant growth and serve as a proof of principle that methylation status in the human term placenta can function as a marker for the intrauterine environment.
Inhibition of The Auto-inflammation Suppressor Protein ISG15 Triggers Preeclampsia by Blocking Trophoblast Migration and InvasionPoster
In summary, ISG15 expression levels are crucial for trophoblast morphology and function (migration/invasion). By blocking trophoblast invasion, reduced ISG15 levels could contribute to impaired spiral artery transformation that reduces utero-placental blood flow in preeclampsia. Thus, agents inducing ISG15 expression are likely to be therapeutic in preeclampsia.
An Emerging Phenotype of Partial RAG 1/2 Deficiency Among Young Children with Autoimmunity and Viral InfectionsPoster
We describe the natural history of a cohort of 12 patients with confirmed partial RAG1/2 mutations and autoimmunity at a young age. We were seeking the link between viral infections and autoimmunity and tested candidate biomarkers that may reflect the underlying RAG1/2 protein deficiency.READ MORE
Complete alignment identification of CRISPR-Cas9 genomic off-targets using Edit-R CRISPR specificity tool and a comprehensive analysis of positional mismatch tolerancePoster
A web tool that performs complete crRNA specificity checking is introduced. In addition, we evaluated positional off-targeting of the CRISPR system.READ MORE