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P3‐127: NATIONAL CELL REPOSITORY FOR ALZHEIMER'S DISEASE: A BIOREPOSITORY FOR ALZHEIMER'S DISEASE AND RELATED DEMENTIA STUDIES
Author(s) -
Nudelman Kelly N.H.,
Faber Kelley,
Mitchell Colleen M.,
Hobbick Chris C.,
Schwantes-An Tae-Hwi,
Wyss Catharine M.,
Wilmes Kristi,
Potter Madeline,
Case K. Rose,
Edler Michael C.,
Dlouhy Stephen R.,
Foroud Tatiana M.
Publication year - 2018
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2018.06.1484
Subject(s) - biorepository , disease , dementia , medicine , alzheimer's disease , biobank , bioinformatics , pathology , biology
the Brains for Dementia Research cohort, was aligned to hg19 using TopHat. The aligned files were QC’d and interrogated for the presence of single nucleotide polymorphisms against the reference genome (hg19). Known polymorphisms with rs# nomenclature were filtered out, along with none A/G changes. Those remaining represented potential A-to-I RNA editing sites. A number of these sites were investigated by Sanger sequencing on a total of 12 (including the original 3) DNA samples and with RNA extracted from the same five brain regions of each individual (n1⁄460) to confirm or refute the presence of RNA-editing as called by the bioinformatics pipeline. Results: The potential RNA-editing site located within the HMP19 gene locus was confirmed to be a false positive; no other individuals or brain regions tested displayed RNA-editing at this point. The sample which had displayed potential editing in the RNA-sequencing data was in fact due to a novel A/G polymorphism in the DNA that had been reflected in the RNAsequence. The potential editing site within the MEG3 gene locus, proved to be a true editing site, in accordance with previous literature. Furthermore, a number of the samples used for verification were from Alzheimer’s disease tissue, in these tissues a more variable pattern of editing was observed in comparison to control samples. Conclusions:The bioinformatics pipeline developed using the Galaxy platform and data fromRNA-sequencing data has identified numerous potential RNA-editing sites in human post-mortem brain. Our data suggest that variation in RNA-editing might be associated with disease and warrants further investigation.