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| Item Type: | Article |
|---|---|
| Title: | Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density |
| Creators Name: | Swan, A.L., Schütt, C., Rozman, J., Del Mar Muñiz Moreno, M., Brandmaier, S., Simon, M., Leuchtenberger, S., Griffiths, M., Brommage, R., Keskivali-Bond, P., Grallert, H., Werner, T., Teperino, R., Becker, L., Miller, G., Moshiri, A., Seavitt, J.R., Cissell, D.D., Meehan, T.F., Acar, E.F., Lelliott, C.J., Flenniken, A.M., Champy, M.F., Sorg, T., Ayadi, A., Braun, R.E., Cater, H., Dickinson, M.E., Flicek, P., Gallegos, J., Ghirardello, E.J., Heaney, J.D., Jacquot, S., Lally, C., Logan, J.G., Teboul, L., Mason, J., Spielmann, N., McKerlie, C., Murray, S.A., Nutter, L.M.J., Odfalk, K.F., Parkinson, H., Prochazka, J., Reynolds, C.L., Selloum, M., Spoutil, F., Svenson, K.L., Vales, T.S., Wells, S.E., White, J.K., Sedlacek, R., Wurst, W., Lloyd, K.K.C., Croucher, P.I., Fuchs, H., Williams, G.R., Bassett, D., Gailus-Durner, V., Herault, Y., Mallon, A.M., Brown, S.D.M., Mayer-Kuckuk, P. and Hrabe de Angelis, M. |
| 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. |
| Keywords: | Bone Density, Gene Expression Regulation, Gene Ontology, Genetic Pleiotropy, Genetic Promoter Regions, Genome-Wide Association Study, Genotype, Mutation, Osteoblasts, Osteoclasts, Osteoporosis, Phenotype, Protein Interaction Maps, Sex Characteristics, Transcriptome, Transgenic Mice, Animals, Mice |
| Source: | PLoS Genetics |
| ISSN: | 1553-7404 |
| Publisher: | Public Library of Science |
| Volume: | 16 |
| Number: | 12 |
| Page Range: | e1009190 |
| Date: | 28 December 2020 |
| Additional Information: | Ralf Kühn is a member of the IMPC Consortium. |
| Official Publication: | https://doi.org/10.1371/journal.pgen.1009190 |
| PubMed: | View item in PubMed |
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