| Literature DB >> 33370286 |
Anna L Swan1, Christine Schütt2, Jan Rozman2,3,4, Maria Del Mar Muñiz Moreno5, Stefan Brandmaier3,6, Michelle Simon1, Stefanie Leuchtenberger2, Mark Griffiths7, Robert Brommage2, Piia Keskivali-Bond1, Harald Grallert3,6, Thomas Werner8, Raffaele Teperino3,9, Lore Becker2, Gregor Miller2, Ala Moshiri10, John R Seavitt11, Derek D Cissell12, Terrence F Meehan13, Elif F Acar14,15,16, Christopher J Lelliott17, Ann M Flenniken14,18, Marie-France Champy19, Tania Sorg19, Abdel Ayadi19, Robert E Braun20, Heather Cater21, Mary E Dickinson11,22, Paul Flicek13, Juan Gallegos11,23, Elena J Ghirardello24, Jason D Heaney11,23, Sylvie Jacquot19, Connor Lally21, John G Logan24, Lydia Teboul21, Jeremy Mason13, Nadine Spielmann2, Colin McKerlie15, Stephen A Murray20, Lauryl M J Nutter14,18, Kristian F Odfalk25, Helen Parkinson13, Jan Prochazka4, Corey L Reynolds22, Mohammed Selloum19, Frantisek Spoutil4, Karen L Svenson20, Taylor S Vales25, Sara E Wells21, Jacqueline K White20, Radislav Sedlacek4, Wolfgang Wurst26,27,28,29, K C Kent Lloyd30, Peter I Croucher31,32,33, Helmut Fuchs2, Graham R Williams24, J H Duncan Bassett24, Valerie Gailus-Durner2, Yann Herault5,19, Ann-Marie Mallon1, Steve D M Brown1, Philipp Mayer-Kuckuk2, Martin Hrabe de Angelis2,3,9,34.
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.Entities:
Mesh：
Year: 2020 PMID： 33370286 PMCID： PMC7822523 DOI： 10.1371/journal.pgen.1009190
Source DB: PubMed Journal: PLoS Genet ISSN： 1553-7390 Impact factor: 6.020