Modelling the genetic aetiology of complex disease: human-mouse conservation of noncoding features and disease-associated loci

Powell, G., Long, H., Zolkiewski, L., Dumbell, R. ORCID: 0000-0002-8805-3777, Mallon, A.-M., Lindgren, C.M. and Simon, M.M., 2022. Modelling the genetic aetiology of complex disease: human-mouse conservation of noncoding features and disease-associated loci. Biology Letters, 18 (3): 20210630. ISSN 1744-9561

[img]
Preview
Text
1533815_Dumbell.pdf - Published version

Download (454kB) | Preview

Abstract

Understanding the genetic aetiology of loci associated with a disease is crucial for developing preventative measures and effective treatments. Mouse models are used extensively to understand human pathobiology and mechanistic functions of disease-associated loci. However, the utility of mouse models is limited in part by evolutionary divergence in transcription regulation for pathways of interest. Here, we summarize the alignment of genomic (exonic and multi-cell regulatory) annotations alongside Mendelian and complex disease-associated variant sites between humans and mice. Our results highlight the importance of understanding evolutionary divergence in transcription regulation when interpreting functional studies using mice as models for human disease variants.

Item Type: Journal article
Publication Title: Biology Letters
Creators: Powell, G., Long, H., Zolkiewski, L., Dumbell, R., Mallon, A.-M., Lindgren, C.M. and Simon, M.M.
Publisher: Royal Society, The
Date: March 2022
Volume: 18
Number: 3
ISSN: 1744-9561
Identifiers:
NumberType
10.1098/rsbl.2021.0630DOI
1533815Other
Rights: © 2022 The Authors. Published by the Royal Society under the terms of the Creative Commons Attribution License http://creativecommons.org/licenses/by/4.0/, which permits unrestricted use, provided the original author and source are credited.
Divisions: Schools > School of Science and Technology
Record created by: Laura Ward
Date Added: 31 Mar 2022 09:28
Last Modified: 31 Mar 2022 09:28
URI: http://irep.ntu.ac.uk/id/eprint/46011

Actions (login required)

Edit View Edit View

Views

Views per month over past year

Downloads

Downloads per month over past year