Literature DB >> 25953952

The landscape of genomic imprinting across diverse adult human tissues.

Yael Baran1, Meena Subramaniam2, Anne Biton2, Taru Tukiainen3, Emily K Tsang4, Manuel A Rivas5, Matti Pirinen6, Maria Gutierrez-Arcelus7, Kevin S Smith8, Kim R Kukurba8, Rui Zhang9, Celeste Eng2, Dara G Torgerson2, Cydney Urbanek10, Jin Billy Li9, Jose R Rodriguez-Santana11, Esteban G Burchard12, Max A Seibold13, Daniel G MacArthur14, Stephen B Montgomery8, Noah A Zaitlen2, Tuuli Lappalainen15.   

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.

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Year:  2015        PMID: 25953952      PMCID: PMC4484390          DOI: 10.1101/gr.192278.115

Source DB:  PubMed          Journal:  Genome Res        ISSN: 1088-9051            Impact factor:   9.043


  54 in total

1.  Computational and experimental identification of novel human imprinted genes.

Authors:  Philippe P Luedi; Fred S Dietrich; Jennifer R Weidman; Jason M Bosko; Randy L Jirtle; Alexander J Hartemink
Journal:  Genome Res       Date:  2007-11-30       Impact factor: 9.043

2.  Genome-wide mapping of allele-specific protein-DNA interactions in human cells.

Authors:  Nathaniel D Maynard; Jing Chen; Rhona K Stuart; Jian-Bing Fan; Bing Ren
Journal:  Nat Methods       Date:  2008-03-16       Impact factor: 28.547

Review 3.  A census of mammalian imprinting.

Authors:  Ian M Morison; Joshua P Ramsay; Hamish G Spencer
Journal:  Trends Genet       Date:  2005-08       Impact factor: 11.639

4.  Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies.

Authors:  Nikolaos I Panousis; Maria Gutierrez-Arcelus; Emmanouil T Dermitzakis; Tuuli Lappalainen
Journal:  Genome Biol       Date:  2014-09-20       Impact factor: 13.583

Review 5.  Random monoallelic expression: regulating gene expression one allele at a time.

Authors:  Mélanie A Eckersley-Maslin; David L Spector
Journal:  Trends Genet       Date:  2014-04-26       Impact factor: 11.639

Review 6.  The evolution of genomic imprinting: theories, predictions and empirical tests.

Authors:  M M Patten; L Ross; J P Curley; D C Queller; R Bonduriansky; J B Wolf
Journal:  Heredity (Edinb)       Date:  2014-04-23       Impact factor: 3.821

7.  Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.

Authors:  Manuel A Rivas; Matti Pirinen; Donald F Conrad; Monkol Lek; Emily K Tsang; Konrad J Karczewski; Julian B Maller; Kimberly R Kukurba; David S DeLuca; Menachem Fromer; Pedro G Ferreira; Kevin S Smith; Rui Zhang; Fengmei Zhao; Eric Banks; Ryan Poplin; Douglas M Ruderfer; Shaun M Purcell; Taru Tukiainen; Eric V Minikel; Peter D Stenson; David N Cooper; Katharine H Huang; Timothy J Sullivan; Jared Nedzel; Carlos D Bustamante; Jin Billy Li; Mark J Daly; Roderic Guigo; Peter Donnelly; Kristin Ardlie; Michael Sammeth; Emmanouil T Dermitzakis; Mark I McCarthy; Stephen B Montgomery; Tuuli Lappalainen; Daniel G MacArthur
Journal:  Science       Date:  2015-05-08       Impact factor: 47.728

Review 8.  The role of genomic imprinting in biology and disease: an expanding view.

Authors:  Jo Peters
Journal:  Nat Rev Genet       Date:  2014-06-24       Impact factor: 53.242

9.  Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data.

Authors:  Jacob F Degner; John C Marioni; Athma A Pai; Joseph K Pickrell; Everlyne Nkadori; Yoav Gilad; Jonathan K Pritchard
Journal:  Bioinformatics       Date:  2009-10-06       Impact factor: 6.937

10.  An integrated map of genetic variation from 1,092 human genomes.

Authors:  Goncalo R Abecasis; Adam Auton; Lisa D Brooks; Mark A DePristo; Richard M Durbin; Robert E Handsaker; Hyun Min Kang; Gabor T Marth; Gil A McVean
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962

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  84 in total

1.  Human genetics: GTEx pilot quantifies eQTL variation across tissues and individuals.

Authors:  Orli G Bahcall
Journal:  Nat Rev Genet       Date:  2015-06-16       Impact factor: 53.242

2.  Applications of Community Detection Algorithms to Large Biological Datasets.

Authors:  Itamar Kanter; Gur Yaari; Tomer Kalisky
Journal:  Methods Mol Biol       Date:  2021

Review 3.  Epigenetic and Cellular Diversity in the Brain through Allele-Specific Effects.

Authors:  Wei-Chao Huang; Kathleen Bennett; Christopher Gregg
Journal:  Trends Neurosci       Date:  2018-08-08       Impact factor: 13.837

4.  IDP-ASE: haplotyping and quantifying allele-specific expression at the gene and gene isoform level by hybrid sequencing.

Authors:  Benjamin Deonovic; Yunhao Wang; Jason Weirather; Xiu-Jie Wang; Kin Fai Au
Journal:  Nucleic Acids Res       Date:  2017-03-17       Impact factor: 16.971

Review 5.  Role of DNA methylation in imprinting disorders: an updated review.

Authors:  Amr Rafat Elhamamsy
Journal:  J Assist Reprod Genet       Date:  2017-03-09       Impact factor: 3.412

6.  A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.

Authors:  Kate V Everett; Paris Ataliotis; Barry A Chioza; Charles Shaw-Smith; Eddie M K Chung
Journal:  Pediatr Res       Date:  2016-11-17       Impact factor: 3.756

7.  Gene expression variability and the analysis of large-scale RNA-seq studies with the MDSeq.

Authors:  Di Ran; Z John Daye
Journal:  Nucleic Acids Res       Date:  2017-07-27       Impact factor: 16.971

8.  Enhancer Domains Predict Gene Pathogenicity and Inform Gene Discovery in Complex Disease.

Authors:  Xinchen Wang; David B Goldstein
Journal:  Am J Hum Genet       Date:  2020-02-06       Impact factor: 11.025

9.  Genetic regulatory variation in populations informs transcriptome analysis in rare disease.

Authors:  Pejman Mohammadi; Stephane E Castel; Beryl B Cummings; Jonah Einson; Christina Sousa; Paul Hoffman; Sandra Donkervoort; Zhuoxun Jiang; Payam Mohassel; A Reghan Foley; Heather E Wheeler; Hae Kyung Im; Carsten G Bonnemann; Daniel G MacArthur; Tuuli Lappalainen
Journal:  Science       Date:  2019-10-10       Impact factor: 47.728

10.  Tools and best practices for data processing in allelic expression analysis.

Authors:  Stephane E Castel; Ami Levy-Moonshine; Pejman Mohammadi; Eric Banks; Tuuli Lappalainen
Journal:  Genome Biol       Date:  2015-09-17       Impact factor: 13.583

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