Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density
Author(s)
Type
Journal Article
Abstract
The genetic landscape of diseases associated with changes in bone mineral density (BMD), such as osteoporosis, is only partially understood. Here, we explored data from 3,823 mutant mouse strains for BMD, a measure that is frequently altered in a range of bone pathologies, including osteoporosis. A total of 200 genes were found to significantly affect BMD. This pool of BMD genes comprised 141 genes with previously unknown functions in bone biology and was complementary to pools derived from recent human studies. Nineteen of the 141 genes also caused skeletal abnormalities. Examination of the BMD genes in osteoclasts and osteoblasts underscored BMD pathways, including vesicle transport, in these cells and together with in silico bone turnover studies resulted in the prioritization of candidate genes for further investigation. Overall, the results add novel pathophysiological and molecular insight into bone health and disease.
Date Issued
2020-12-01
Date Acceptance
2020-10-13
Citation
PLoS Genetics, 2020, 16 (12), pp.1-27
ISSN
1553-7390
Publisher
Public Library of Science (PLoS)
Start Page
1
End Page
27
Journal / Book Title
PLoS Genetics
Volume
16
Issue
12
Copyright Statement
© 2020 Swan et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
License URL
Sponsor
Wellcome Trust
Commission of the European Communities
European Commission
Wellcome Trust
Wellcome Trust
Identifier
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000603637400005&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
Grant Number
101123/Z/13/A
666869
THYRAGE-666869
110141/Z/15/Z
15293
Subjects
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
GENOME-WIDE ASSOCIATION
OSTEOGENESIS IMPERFECTA
ANIMAL-MODELS
SEX
COLLAGEN
DIFFERENTIATION
IDENTIFICATION
METAANALYSIS
DISCOVERY
MUTATION
Publication Status
Published
Article Number
ARTN e1009190
Date Publish Online
2020-12-28