> Details

Swan, Anna L.; Schütt, Christine; Rozman, Jan; del Mar Muñiz Moreno, Maria; Brandmaier, Stefan; Simon, Michelle; Leuchtenberger, Stefanie; Griffiths, Mark; Brommage, Robert; Keskivali-Bond, Piia; Grallert, Harald; Werner, Thomas; Teperino, Raffaele; Becker, Lore; Miller, Gregor; Moshiri, Ala; Seavitt, John R.; Cissell, Derek D.; Meehan, Terrence F.; Acar, Elif F.; Lelliott, Christopher J.; Flenniken, Ann M.; Champy, Marie-France; Sorg, Tania; [...]

Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density

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  • Media type: E-Article
  • Title: Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density
  • Contributor: Swan, Anna L.; Schütt, Christine; Rozman, Jan; del Mar Muñiz Moreno, Maria; Brandmaier, Stefan; Simon, Michelle; Leuchtenberger, Stefanie; Griffiths, Mark; Brommage, Robert; Keskivali-Bond, Piia; Grallert, Harald; Werner, Thomas; Teperino, Raffaele; Becker, Lore; Miller, Gregor; Moshiri, Ala; Seavitt, John R.; Cissell, Derek D.; Meehan, Terrence F.; Acar, Elif F.; Lelliott, Christopher J.; Flenniken, Ann M.; Champy, Marie-France; Sorg, Tania; [...]
  • imprint: Public Library of Science (PLoS), 2020
  • Published in: PLOS Genetics
  • Language: English
  • DOI: 10.1371/journal.pgen.1009190
  • ISSN: 1553-7404
  • Keywords: Cancer Research ; Genetics (clinical) ; Genetics ; Molecular Biology ; Ecology, Evolution, Behavior and Systematics
  • Origination:
  • Footnote:
  • Description: <jats:p>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 <jats:italic>in silico</jats:italic> 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.</jats:p>
  • Access State: Open Access