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Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density
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SYSNO ASEP 0539808 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density Author(s) Swan, A.L. (GB)
Rozman, Jan (UMG-J)
Procházka, Jan (UMG-J) ORCID
Špoutil, František (UMG-J)
Sedláček, Radislav (UMG-J) RIDNumber of authors 65 Article number e1009190 Source Title PLoS Genetics. - : Public Library of Science - ISSN 1553-7404
Roč. 16, č. 12 (2020)Number of pages 28 s. Publication form Online - E Language eng - English Country US - United States Keywords GENOME-WIDE ASSOCIATION ; OSTEOGENESIS IMPERFECTA ; ANIMAL-MODELS ; SEX ; COLLAGEN ; DIFFERENTIATION ; IDENTIFICATION ; METAANALYSIS ; DISCOVERY ; MUTATION Subject RIV EB - Genetics ; Molecular Biology OECD category Technologies involving identifying the functioning of DNA, proteins and enzymes and how they influence the onset of disease and maintenance of well-being (gene-based diagnostics and therapeutic interventions (pharmacogenomics, gene-based therapeutics) R&D Projects LM2015040 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) LM2018126 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) ED1.1.00/02.0109 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) ED2.1.00/19.0395 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) EF16_013/0001789 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) Method of publishing Open access Institutional support UMG-J - RVO:68378050 UT WOS 000603637400005 DOI 10.1371/journal.pgen.1009190 Annotation 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.Workplace Institute of Molecular Genetics Contact Nikol Škňouřilová, nikol.sknourilova@img.cas.cz, Tel.: 241 063 217 Year of Publishing 2021 Electronic address https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1009190
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