1. The landscape of genomic imprinting across diverse adult human tissues.
- Author
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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, and Lappalainen T
- Subjects
- Adult, Alleles, Cluster Analysis, DNA Methylation, Databases, Nucleic Acid, Female, Gene Expression Regulation, Genetic Variation, Genotype, Humans, Male, Organ Specificity genetics, Polymorphism, Single Nucleotide, Reproducibility of Results, Sex Factors, Genomic Imprinting, Genomics
- Abstract
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., (© 2015 Baran et al.; Published by Cold Spring Harbor Laboratory Press.)
- Published
- 2015
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