Research article
Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes
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* Corresponding author: Valerie W Hu bcmvwh@gwumc.edu
1 The George Washington University Medical Center, Dept. of Biochemistry and Molecular Biology, 2300 Eye St., N.W. Washington, DC 20037, USA
2 The Institute for Genomic Research, 9715 Medical Center Drive, Rockville, MD 20850, USA
3 The Dana-Farber Cancer Institute, Department of Biostatistics and Computational Biology, 44 Binney St. Boston, MA 02115, USA
BMC Genomics 2006, 7:118 doi:10.1186/1471-2164-7-118
Published: 18 May 2006Additional files
Additional File 1:
Principal components analysis of microarray data from the 5 sets of monozygotic twins with ASD, with each color representing a separate pair of twins. This figure shows that genotype is a major contributor to variations in overall gene expression profile. Each point on the graph represents a dye-reversal experiment on a given twin pair. Note that even the 2 pairs of twins who share the same mother but have different fathers (pink and yellow points) are distinguishable from each other.
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Additional File 2:
A representative gene network showing overlap of some neurologically relevant genes among 3 discordant autistic twin sets using Ingenuity Pathways Analysis software. Genes shown in yellow represent overlap of differentially expressed genes in 2 or more sets of twins, whereas the red and green nodes correspond to genes that are up- or down-regulated, respectively, in only 1 twin set. The expression cutoff was set at log2(ratio) = ± 0.58 for each twin set. The 12 genes marked by "#" are known to be involved in nervous system development and function.
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Additional File 3:
Case description of subjects from whom LCL were derived and used in this study. (Self-explanatory)
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Additional File 4:
Differentially expressed genes within or across twin sets mapped within or close to autism candidate genes or quantitative trait loci. This table shows that many of the differentially expressed genes map in silico to autism susceptibility loci or quantitative trait loci identified by genetic analyses.
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Additional File 5:
Primers used for quantitative RT-PCR analyses. (Self-explanatory)
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