tailieunhanh - Báo cáo y học: "Genome-wide assessment of imprinted expression in human cells."

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Genome-wide assessment of imprinted expression in human cells. | Morcos et al. Genome Biology 2011 12 R25 http 2011 12 3 R25 Genome Biology RESEARCH Open Access Genome-wide assessment of imprinted expression in human cells 1 r z 1 1 1 2 2 Lisanne Morcos Bing Ge Vonda Koka Kevin CL Lam Dmitry K Pokholok Kevin L Gunderson Alexandre Montpetit 1 Dominique J Verlaan1 Tomi Pastinen1 Abstract Background Parent-of-origin-dependent expression of alleles imprinting has been suggested to impact a substantial proportion of mammalian genes. Its discovery requires allele-specific detection of expressed transcripts but in some cases detected allelic expression bias has been interpreted as imprinting without demonstrating compatible transmission patterns and excluding heritable variation. Therefore we utilized a genome-wide tool exploiting high density genotyping arrays in parallel measurements of genotypes in RNA and DNA to determine allelic expression across the transcriptome in lymphoblastoid cell lines LCLs and skin fibroblasts derived from families. Results We were able to validate 43 of imprinted genes with previous demonstration of compatible transmission patterns in LCLs and fibroblasts. In contrast we only validated 8 of genes suggested to be imprinted in the literature but without clear evidence of parent-of-origin-determined expression. We also detected five novel imprinted genes and delineated regions of imprinted expression surrounding annotated imprinted genes. More subtle parent-of-origin-dependent expression or partial imprinting could be verified in four genes. Despite higher prevalence of monoallelic expression immortalized LCLs showed consistent imprinting in fewer loci than primary cells. Random monoallelic expression has previously been observed in LCLs and we show that random monoallelic expression in LCLs can be partly explained by aberrant methylation in the genome. Conclusions Our results indicate that widespread parent-of-origin-dependent expression observed recently in rodents is unlikely to be .