Allele-specific expression and eQTL analysis in mouse adipose tissue. 2014

Yehudit Hasin-Brumshtein, and Farhad Hormozdiari, and Lisa Martin, and Atila van Nas, and Eleazar Eskin, and Aldons J Lusis, and Thomas A Drake
Department of Medicine/Division of Cardiology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA. yehudit.hasin@gmail.com.

BACKGROUND The simplest definition of cis-eQTLs versus trans, refers to genetic variants that affect expression in an allele specific manner, with implications on underlying mechanism. Yet, due to technical limitations of expression microarrays, the vast majority of eQTL studies performed in the last decade used a genomic distance based definition as a surrogate for cis, therefore exploring local rather than cis-eQTLs. RESULTS In this study we use RNAseq to explore allele specific expression (ASE) in adipose tissue of male and female F1 mice, produced from reciprocal crosses of C57BL/6J and DBA/2J strains. Comparison of the identified cis-eQTLs, to local-eQTLs, that were obtained from adipose tissue expression in two previous population based studies in our laboratory, yields poor overlap between the two mapping approaches, while both local-eQTL studies show highly concordant results. Specifically, local-eQTL studies show ~60% overlap between themselves, while only 15-20% of local-eQTLs are identified as cis by ASE, and less than 50% of ASE genes are recovered in local-eQTL studies. Utilizing recently published ENCODE data, we also find that ASE genes show significant bias for SNPs prevalence in DNase I hypersensitive sites that is ASE direction specific. CONCLUSIONS We suggest a new approach to analysis of allele specific expression that is more sensitive and accurate than the commonly used fisher or chi-square statistics. Our analysis indicates that technical differences between the cis and local-eQTL approaches, such as differences in genomic background or sex specificity, account for relatively small fraction of the discrepancy. Therefore, we suggest that the differences between two eQTL mapping approaches may facilitate sorting of SNP-eQTL interactions into true cis and trans, and that a considerable portion of local-eQTL may actually represent trans interactions.

UI MeSH Term Description Entries
D008297 Male Males
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D005260 Female Females
D005786 Gene Expression Regulation Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation. Gene Action Regulation,Regulation of Gene Expression,Expression Regulation, Gene,Regulation, Gene Action,Regulation, Gene Expression
D000273 Adipose Tissue Specialized connective tissue composed of fat cells (ADIPOCYTES). It is the site of stored FATS, usually in the form of TRIGLYCERIDES. In mammals, there are two types of adipose tissue, the WHITE FAT and the BROWN FAT. Their relative distributions vary in different species with most adipose tissue being white. Fatty Tissue,Body Fat,Fat Pad,Fat Pads,Pad, Fat,Pads, Fat,Tissue, Adipose,Tissue, Fatty
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D051379 Mice The common name for the genus Mus. Mice, House,Mus,Mus musculus,Mice, Laboratory,Mouse,Mouse, House,Mouse, Laboratory,Mouse, Swiss,Mus domesticus,Mus musculus domesticus,Swiss Mice,House Mice,House Mouse,Laboratory Mice,Laboratory Mouse,Mice, Swiss,Swiss Mouse,domesticus, Mus musculus
D020641 Polymorphism, Single Nucleotide A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population. SNPs,Single Nucleotide Polymorphism,Nucleotide Polymorphism, Single,Nucleotide Polymorphisms, Single,Polymorphisms, Single Nucleotide,Single Nucleotide Polymorphisms
D020869 Gene Expression Profiling The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell. Gene Expression Analysis,Gene Expression Pattern Analysis,Transcript Expression Analysis,Transcriptome Profiling,Transcriptomics,mRNA Differential Display,Gene Expression Monitoring,Transcriptome Analysis,Analyses, Gene Expression,Analyses, Transcript Expression,Analyses, Transcriptome,Analysis, Gene Expression,Analysis, Transcript Expression,Analysis, Transcriptome,Differential Display, mRNA,Differential Displays, mRNA,Expression Analyses, Gene,Expression Analysis, Gene,Gene Expression Analyses,Gene Expression Monitorings,Gene Expression Profilings,Monitoring, Gene Expression,Monitorings, Gene Expression,Profiling, Gene Expression,Profiling, Transcriptome,Profilings, Gene Expression,Profilings, Transcriptome,Transcript Expression Analyses,Transcriptome Analyses,Transcriptome Profilings,mRNA Differential Displays

Related Publications

Yehudit Hasin-Brumshtein, and Farhad Hormozdiari, and Lisa Martin, and Atila van Nas, and Eleazar Eskin, and Aldons J Lusis, and Thomas A Drake
July 2013, Hypertension (Dallas, Tex. : 1979),
Yehudit Hasin-Brumshtein, and Farhad Hormozdiari, and Lisa Martin, and Atila van Nas, and Eleazar Eskin, and Aldons J Lusis, and Thomas A Drake
November 2013, Genetics,
Yehudit Hasin-Brumshtein, and Farhad Hormozdiari, and Lisa Martin, and Atila van Nas, and Eleazar Eskin, and Aldons J Lusis, and Thomas A Drake
January 2020, Methods in molecular biology (Clifton, N.J.),
Yehudit Hasin-Brumshtein, and Farhad Hormozdiari, and Lisa Martin, and Atila van Nas, and Eleazar Eskin, and Aldons J Lusis, and Thomas A Drake
October 2020, Genetics, selection, evolution : GSE,
Yehudit Hasin-Brumshtein, and Farhad Hormozdiari, and Lisa Martin, and Atila van Nas, and Eleazar Eskin, and Aldons J Lusis, and Thomas A Drake
October 2023, bioRxiv : the preprint server for biology,
Yehudit Hasin-Brumshtein, and Farhad Hormozdiari, and Lisa Martin, and Atila van Nas, and Eleazar Eskin, and Aldons J Lusis, and Thomas A Drake
October 2015, BMC genomics,
Yehudit Hasin-Brumshtein, and Farhad Hormozdiari, and Lisa Martin, and Atila van Nas, and Eleazar Eskin, and Aldons J Lusis, and Thomas A Drake
December 2004, Biochemical and biophysical research communications,
Yehudit Hasin-Brumshtein, and Farhad Hormozdiari, and Lisa Martin, and Atila van Nas, and Eleazar Eskin, and Aldons J Lusis, and Thomas A Drake
January 2006, Methods in molecular biology (Clifton, N.J.),
Yehudit Hasin-Brumshtein, and Farhad Hormozdiari, and Lisa Martin, and Atila van Nas, and Eleazar Eskin, and Aldons J Lusis, and Thomas A Drake
January 2008, Methods in molecular biology (Clifton, N.J.),
Yehudit Hasin-Brumshtein, and Farhad Hormozdiari, and Lisa Martin, and Atila van Nas, and Eleazar Eskin, and Aldons J Lusis, and Thomas A Drake
May 2008, Genome research,
Copied contents to your clipboard!