Single cell expression quantitative trait loci and complex traits

Enrico Petretto

doi:10.1186/gm476

Abstract

The recently developed ability to quantify mRNA abundance and noise in single cells has allowed the effect of heritable variations on gene function to be re-evaluated. A recent study has shown that major sources of variation are masked when gene expression is averaged over many cells. Heritable variations that determine single-cell expression phenotypes may exert a regulatory function in specific cellular processes underlying disease. Masked effects on gene expression should therefore be modeled, not ignored.

Highlights

The recently developed ability to quantify mRNA abundance and noise in single cells has allowed the effect of heritable variations on gene function to be re-evaluated
None theless, emerging concepts such as singlecell transcrip tomics have started changing our understanding of the genetic regulation of gene expression in individual cells, which can be hidden in ensembleaveraged experiments
In a recent study published in Nature Biotechnology, Holmes and colleagues [7] carried out singlecell quanti fication of gene expression for 92 genes in approximately 1,500 individual cells to disentangle the effect of gene variants on celltocell variability, temporal dynamics or cellcycle dependence in gene expression

Summary

Introduction

The recently developed ability to quantify mRNA abundance and noise in single cells has allowed the effect of heritable variations on gene function to be re-evaluated. In a recent study published in Nature Biotechnology, Holmes and colleagues [7] carried out singlecell quanti fication of gene expression for 92 genes in approximately 1,500 individual cells to disentangle the effect of gene variants on celltocell variability, temporal dynamics or cellcycle dependence in gene expression.

Results

Conclusion