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Article

Genomic variants within chromosome 14q32.32 regulate bone mass through MARK3 signaling in osteoblasts.

The Journal of clinical investigation - 1 Apr 2021

Zhang Qian, Mesner Larry D, Calabrese Gina M, Dirckx Naomi, Li Zhu, Verardo Angela, Yang Qian, Tower Robert J, Faugere Marie-Claude, Farber Charles R, Clemens Thomas L

Abstract excerpt

Bone mineral density (BMD) is a highly heritable predictor of osteoporotic fracture. GWAS have identified hundreds of loci influencing BMD, but few have been functionally analyzed. In this study, we show that SNPs within a BMD locus on chromosome 14q32.32 alter splicing and expression of PAR-1a/microtubule affinity regulating kinase 3 (MARK3), a conserved serine/threonine kinase known to regulate bioenergetics,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33792563
DOI: 10.1172/JCI142580
PMCID: PMC8011892

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