A survey of genetic human cortical gene expression.

TitleA survey of genetic human cortical gene expression.
Publication TypeJournal Article
Year of Publication2007
AuthorsMyers, AJ, J Gibbs, R, Webster, JA, Rohrer, K, Zhao, A, Marlowe, L, Kaleem, M, Leung, D, Bryden, L, Nath, P, Zismann, VL, Joshipura, K, Huentelman, MJ, Hu-Lince, D, Coon, KD, Craig, DW, Pearson, JV, Holmans, P, Heward, CB, Reiman, EM, Stephan, D, Hardy, J
JournalNat Genet
Volume39
Issue12
Pagination1494-9
Date Published2007 Dec
ISSN1546-1718
KeywordsAged, Aged, 80 and over, Cerebral Cortex, Gene Expression Profiling, Genetic Variation, Humans, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide
Abstract

It is widely assumed that genetic differences in gene expression underpin much of the difference among individuals and many of the quantitative traits of interest to geneticists. Despite this, there has been little work on genetic variability in human gene expression and almost none in the human brain, because tools for assessing this genetic variability have not been available. Now, with whole-genome SNP genotyping arrays and whole-transcriptome expression arrays, such experiments have become feasible. We have carried out whole-genome genotyping and expression analysis on a series of 193 neuropathologically normal human brain samples using the Affymetrix GeneChip Human Mapping 500K Array Set and Illumina HumanRefseq-8 Expression BeadChip platforms. Here we present data showing that 58% of the transcriptome is cortically expressed in at least 5% of our samples and that of these cortically expressed transcripts, 21% have expression profiles that correlate with their genotype. These genetic-expression effects should be useful in determining the underlying biology of associations with common diseases of the human brain and in guiding the analysis of the genomic regions involved in the control of normal gene expression.

DOI10.1038/ng.2007.16
Alternate JournalNat. Genet.
PubMed ID17982457
Grant ListP50-AG08671 / AG / NIA NIH HHS / United States
MH60451 / MH / NIMH NIH HHS / United States
UO1HL084744 / HL / NHLBI NIH HHS / United States
P50 AG05136 / AG / NIA NIH HHS / United States
AG05146 / AG / NIA NIH HHS / United States
P50 AG16570 / AG / NIA NIH HHS / United States
U24NS051872 / NS / NINDS NIH HHS / United States
G0701075 / / Medical Research Council / United Kingdom
AG05128 / AG / NIA NIH HHS / United States
U01 AG016976 / AG / NIA NIH HHS / United States
NS39764 / NS / NINDS NIH HHS / United States
AG05144 / AG / NIA NIH HHS / United States
AG10161 / AG / NIA NIH HHS / United States
P30 AG19610 / AG / NIA NIH HHS / United States
P30-AG13846 / AG / NIA NIH HHS / United States
P50AG05681 / AG / NIA NIH HHS / United States
G9810900 / / Medical Research Council / United Kingdom