Biased allelic expression in human primary fibroblast single cells

• Type: Article in International Scientific Journal
• Date: 2015

Authors

Borel, C (Author) Other; Ferreira, PG (Author) Other; Santoni, F (Author) Other; Delaneau, O (Author) Other; Fort, A (Author) Other; Popadin, KY (Author) Other; Garieri, M (Author) Other; Falconnet, E (Author) Other; Ribaux, P (Author) Other; Guipponi, M (Author) Other; Padioleau, I (Author) Other; Carninci, P (Author) Other; Dermitzakis, ET (Author) Other; Antonarakis, SE (Author) Other

Journal

Title: American Journal of Human Genetics

Vol. 96

Pages: 70-80

ISSN: 0002-9297

Publisher: Elsevier

Indexing

Scopus - 89 Citations

Scientific classification

FOS: Natural sciences > Biological sciences ; Natural sciences > Computer and information sciences

CORDIS: Natural sciences > Biological sciences > Biology > Computational biology

Other information

Authenticus ID: P-00Q-55G

DOI: 10.1016/j.ajhg.2014.12.001

Abstract (EN): 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. © 2015 The American Society of Human Genetics.

Language: English

Type (Professor's evaluation): Scientific