作者
Kristi Kerkel, Alexandra Spadola, Eric Yuan, Jolanta Kosek, Le Jiang, Eldad Hod, Kerry Li, Vundavalli V Murty, Nicole Schupf, Eric Vilain, Mitzi Morris, Fatemeh Haghighi, Benjamin Tycko
发表日期
2008/7
期刊
Nature genetics
卷号
40
期号
7
页码范围
904-908
出版商
Nature Publishing Group US
简介
Allele-specific DNA methylation (ASM) is a hallmark of imprinted genes, but ASM in the larger nonimprinted fraction of the genome is less well characterized. Using methylation-sensitive SNP analysis (MSNP), we surveyed the human genome at 50K and 250K resolution, identifying ASM as recurrent genotype call conversions from heterozygosity to homozygosity when genomic DNAs were predigested with the methylation-sensitive restriction enzyme HpaII. Using independent assays, we confirmed ASM at 16 SNP-tagged loci distributed across various chromosomes. At 12 of these loci (75%), the ASM tracked strongly with the sequence of adjacent SNPs. Further analysis showed allele-specific mRNA expression at two loci from this methylation-based screen—the vanin and CYP2A6-CYP2A7 gene clusters—both implicated in traits of medical importance. This recurrent phenomenon of sequence-dependent ASM …
引用总数
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