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The landscape of genomic imprinting across diverse adult human tissues #MMPMID25953952
Baran Y; Subramaniam M; Biton A; Tukiainen T; Tsang EK; Rivas MA; Pirinen M; Gutierrez-Arcelus M; Smith KS; Kukurba KR; Zhang R; Eng C; Torgerson DG; Urbanek C; Li JB; Rodriguez-Santana JR; Burchard EG; Seibold MA; MacArthur DG; Montgomery SB; Zaitlen NA; Lappalainen T
Genome Res 2015[Jul]; 25 (7): 927-36 PMID25953952show ga
Genomic imprinting is an important regulatory mechanism that silences one of the parental copies of a gene. To systematically characterize this phenomenon, we analyze tissue specificity of imprinting from allelic expression data in 1582 primary tissue samples from 178 individuals from the Genotype-Tissue Expression (GTEx) project. We characterize imprinting in 42 genes, including both novel and previously identified genes. Tissue specificity of imprinting is widespread, and gender-specific effects are revealed in a small number of genes in muscle with stronger imprinting in males. IGF2 shows maternal expression in the brain instead of the canonical paternal expression elsewhere. Imprinting appears to have only a subtle impact on tissue-specific expression levels, with genes lacking a systematic expression difference between tissues with imprinted and biallelic expression. In summary, our systematic characterization of imprinting in adult tissues highlights variation in imprinting between genes, individuals, and tissues.