Document Type

Article

Publication Date

12-28-2020

Keywords

JMG

JAX Source

PLoS Genet 2020 Dec 28; 16(12):e1009190

PMID

33370286

DOI

https://doi.org/10.1371/journal.pgen.1009190

Grant

DO023222

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.

Comments

REB, SAM, JKW, KLS thank the members of the Jackson Laboratory Research Animal Facility and Laboratory Informatics Team for their outstanding support.

This is an open access article distributed under the terms of theCreative Commons Attribution License.

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