Molecular and evolutionary processes generating variation in gene expression

MS Hill, P Vande Zande, PJ Wittkopp - Nature Reviews Genetics, 2021 - nature.com
Heritable variation in gene expression is common within and between species. This
variation arises from mutations that alter the form or function of molecular gene regulatory …

The role of regulatory variation in complex traits and disease

FW Albert, L Kruglyak - Nature Reviews Genetics, 2015 - nature.com
We are in a phase of unprecedented progress in identifying genetic loci that cause variation
in traits ranging from growth and fitness in simple organisms to disease in humans …

Genetic analyses support the contribution of mRNA N6-methyladenosine (m6A) modification to human disease heritability

Z Zhang, K Luo, Z Zou, M Qiu, J Tian, L Sieh, H Shi… - Nature …, 2020 - nature.com
Abstract N 6-methyladenosine (m6A) plays important roles in regulating messenger RNA
processing. Despite rapid progress in this field, little is known about the genetic …

Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response

K Alasoo, J Rodrigues, S Mukhopadhyay, AJ Knights… - Nature …, 2018 - nature.com
Regulatory variants are often context specific, modulating gene expression in a subset of
possible cellular states. Although these genetic effects can play important roles in disease …

Beyond GWASs: illuminating the dark road from association to function

SL Edwards, J Beesley, JD French… - The American Journal of …, 2013 - cell.com
Genome-wide association studies (GWASs) have enabled the discovery of common genetic
variation contributing to normal and pathological traits and clinical drug responses, but …

The genetic and biochemical determinants of mRNA degradation rates in mammals

V Agarwal, DR Kelley - Genome biology, 2022 - Springer
Background Degradation rate is a fundamental aspect of mRNA metabolism, and the factors
governing it remain poorly characterized. Understanding the genetic and biochemical …

RNA splicing is a primary link between genetic variation and disease

YI Li, B Van De Geijn, A Raj, DA Knowles, AA Petti… - Science, 2016 - science.org
Noncoding variants play a central role in the genetics of complex traits, but we still lack a full
understanding of the molecular pathways through which they act. We quantified the …

In vivo mapping of eukaryotic RNA interactomes reveals principles of higher-order organization and regulation

JGA Aw, Y Shen, A Wilm, M Sun, XN Lim, KL Boon… - Molecular cell, 2016 - cell.com
Identifying pairwise RNA-RNA interactions is key to understanding how RNAs fold and
interact with other RNAs inside the cell. We present a high-throughput approach …

Systems genetics approaches to understand complex traits

M Civelek, AJ Lusis - Nature Reviews Genetics, 2014 - nature.com
Abstract Systems genetics is an approach to understand the flow of biological information
that underlies complex traits. It uses a range of experimental and statistical methods to …

Impact of regulatory variation from RNA to protein

A Battle, Z Khan, SH Wang, A Mitrano, MJ Ford… - Science, 2015 - science.org
The phenotypic consequences of expression quantitative trait loci (eQTLs) are presumably
due to their effects on protein expression levels. Yet the impact of genetic variation, including …