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Title

Biased allelic expression in human primary fibroblast single cells

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Published in American Journal of Human Genetics. 2015, vol. 96, no. 1, p. 70-80
Abstract The study of gene expression in mammalian single cells via genomic technologies now provides the possibility to investigate the patterns of allelic gene expression. We used single-cell RNA sequencing to detect the allele-specific mRNA level in 203 single human primary fibroblasts over 133,633 unique heterozygous single-nucleotide variants (hetSNVs). We observed that at the snapshot of analyses, each cell contained mostly transcripts from one allele from the majority of genes; indeed, 76.4% of the hetSNVs displayed stochastic monoallelic expression in single cells. Remarkably, adjacent hetSNVs exhibited a haplotype-consistent allelic ratio; in contrast, distant sites located in two different genes were independent of the haplotype structure. Moreover, the allele-specific expression in single cells correlated with the abundance of the cellular transcript. We observed that genes expressing both alleles in the majority of the single cells at a given time point were rare and enriched with highly expressed genes. The relative abundance of each allele in a cell was controlled by some regulatory mechanisms given that we observed related single-cell allelic profiles according to genes. Overall, these results have direct implications in cellular phenotypic variability.
Keywords AllelesDNA, Complementary/genetics/metabolismFibroblasts/cytologyGenome, HumanHaplotypesHeterozygoteHumansPhenotypeRNA, Messenger/genetics/metabolismSequence Analysis, RNASingle-Cell Analysis
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PMID: 25557783
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Research groups Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
Population Genomics and Genetics of Complex Traits (892)
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BOREL, Christelle et al. Biased allelic expression in human primary fibroblast single cells. In: American Journal of Human Genetics, 2015, vol. 96, n° 1, p. 70-80. https://archive-ouverte.unige.ch/unige:77355

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Deposited on : 2015-11-18

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