@article{1e6175a75940489582e461eef54ab02f,
title = "Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density",
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.",
author = "{IMPC Consortium} and Swan, {Anna L.} and Christine Sch{\"u}tt and Jan Rozman and {del Mar Mu{\~n}iz Moreno}, Maria and Stefan Brandmaier and Michelle Simon and Stefanie Leuchtenberger and Mark Griffiths and Robert Brommage and Piia Keskivali-Bond and Harald Grallert and Thomas Werner and Raffaele Teperino and Lore Becker and Gregor Miller and Ala Moshiri and Seavitt, {John R.} and Cissell, {Derek D.} and Meehan, {Terrence F.} and Acar, {Elif F.} and Lelliott, {Christopher J.} and Flenniken, {Ann M.} and Champy, {Marie France} and Tania Sorg and Abdel Ayadi and Braun, {Robert E.} and Heather Cater and Dickinson, {Mary E.} and Paul Flicek and Juan Gallegos and Ghirardello, {Elena J.} and Heaney, {Jason D.} and Sylvie Jacquot and Connor Lally and Logan, {John G.} and Lydia Teboul and Jeremy Mason and Nadine Spielmann and Colin McKerlie and Murray, {Stephen A.} and Nutter, {Lauryl M.J.} and Odfalk, {Kristian F.} and Helen Parkinson and Jan Prochazka and Reynolds, {Corey L.} and Mohammed Selloum and Frantisek Spoutil and Wolfgang Wurst and Johannes Beckers and Busch, {Dirk H.}",
note = "Publisher Copyright: {\textcopyright} 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.",
year = "2020",
month = dec,
day = "28",
doi = "10.1371/journal.pgen.1009190",
language = "English",
volume = "16",
journal = "PLoS Genetics",
issn = "1553-7390",
publisher = "Public Library of Science",
number = "12 December",
}
