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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.

SUBMITTER: Swan AL 

PROVIDER: S-EPMC7822523 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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

Swan Anna L AL   Schütt Christine C   Rozman Jan J   Del Mar Muñiz Moreno Maria M   Brandmaier Stefan S   Simon Michelle M   Leuchtenberger Stefanie S   Griffiths Mark M   Brommage Robert R   Keskivali-Bond Piia P   Grallert Harald H   Werner Thomas T   Teperino Raffaele R   Becker Lore L   Miller Gregor G   Moshiri Ala A   Seavitt John R JR   Cissell Derek D DD   Meehan Terrence F TF   Acar Elif F EF   Lelliott Christopher J CJ   Flenniken Ann M AM   Champy Marie-France MF   Sorg Tania T   Ayadi Abdel A   Braun Robert E RE   Cater Heather H   Dickinson Mary E ME   Flicek Paul P   Gallegos Juan J   Ghirardello Elena J EJ   Heaney Jason D JD   Jacquot Sylvie S   Lally Connor C   Logan John G JG   Teboul Lydia L   Mason Jeremy J   Spielmann Nadine N   McKerlie Colin C   Murray Stephen A SA   Nutter Lauryl M J LMJ   Odfalk Kristian F KF   Parkinson Helen H   Prochazka Jan J   Reynolds Corey L CL   Selloum Mohammed M   Spoutil Frantisek F   Svenson Karen L KL   Vales Taylor S TS   Wells Sara E SE   White Jacqueline K JK   Sedlacek Radislav R   Wurst Wolfgang W   Lloyd K C Kent KCK   Croucher Peter I PI   Fuchs Helmut H   Williams Graham R GR   Bassett J H Duncan JHD   Gailus-Durner Valerie V   Herault Yann Y   Mallon Ann-Marie AM   Brown Steve D M SDM   Mayer-Kuckuk Philipp P   Hrabe de Angelis Martin M  

PLoS genetics 20201228 12

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 rece  ...[more]

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