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Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
Open accessAbstract
The osteocyte, a terminally differentiated cell comprising 90%-95% of all bone cells, may have multiple functions, including acting as a mechanosensor in bone (re)modeling. Dentin matrix protein 1 (encoded by DMP1) is highly expressed in osteocytes and, when deleted in mice, results in a hypomineralized bone phenotype. We investigated the potential for this gene not only to direct skeletal mineralization but also to regulate phosphate (P(i)) homeostasis. Both Dmp1-null mice and individuals with a newly identified disorder, autosomal recessive hypophosphatemic rickets, manifest rickets and osteomalacia with isolated renal phosphate-wasting associated with elevated fibroblast growth factor 23 (FGF23) levels and normocalciuria. Mutational analyses showed that autosomal recessive hypophosphatemic rickets family carried a mutation affecting the DMP1 start codon, and a second family carried a 7-bp deletion disrupting the highly conserved DMP1 C terminus. Mechanistic studies using Dmp1-null mice demonstrated that absence of DMP1 results in defective osteocyte maturation and increased FGF23 expression, leading to pathological changes in bone mineralization. Our findings suggest a bone-renal axis that is central to guiding proper mineral metabolism.
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“Impaired DMP1 function is associated with a hypomineralized bone phenotype, which can result in rickets or osteomalacia 40,41 .”
From Sex-specific gene expression signatures of calcific aortic valve stenosis in a large collection of human tissues (2026) · cites this paper as [41]
In the citing paper
“Mutations in genes that have highly enriched expression in osteocytes cause rare bone and mineral disorders.”
From Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease (2021) · cites this paper as [20]
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Self-citationDifferent Forms of DMP1 Play Distinct Roles in Mineralization
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“Based on characterization of DMP-1 knock-out animals (Ye et al., 2004; Ling et al., 2005), descriptions of two individuals with DMP1 mutations (Feng et al., 2006), and in vitro studies of the effects of the parent protein and the 57K fragment on hydroxyapatite (HA) formation (He et al., 2003a, b;…”
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Self-citationFGF23-αKlotho as a paradigm for a kidney-bone network
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Naderi, A. S. A., & Reilly, R. F. (2010) · Nature Reviews Nephrology · doi:10.1038/nrneph.2010.121 · Cited by 93
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“PHEX and DMP1 may promote the activity of the subtilisin-like protease(s) responsible for mediating FGF23 cleavage (Quarles, 2008).”
BackgroundInfluentialFGF23-related hypophosphatemic rickets/osteomalacia: diagnosis and new treatment
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FGF23 and the parathyroid glands
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“Its source is the most unlikely of all endocrine organs, bone, where it is synthesized predominantly by osteocytes [1, 2], cells that had been considered to be of limited functional significance apart from their response to mechanical stimuli, and to a lesser extent by osteoblasts.”
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Kamel-ElSayed, S. A., Tiede-Lewis, L. M., Lu, Y., Veno, P. A., & Dallas, S. L. (2015) · Bone · doi:10.1016/j.bone.2015.02.011 · Cited by 87
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Destroy to Rebuild: The Connection Between Bone Tissue Remodeling and Matrix Metalloproteinases
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InfluentialSekaran, S., Vimalraj, S., & Thangavelu, L. P. (2021) · Biomolecules · doi:10.3390/biom11111564 · Cited by 90
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BackgroundInfluentialDexamethasone-induced expression of the glucocorticoid response gene lipocalin 2 in chondrocytes
Owen, H. C., Roberts, S. J., Ahmed, S. F., & Farquharson, C. (2008) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.00586.2007 · Cited by 76
“332 Dentin matrix protein 1 *(19, 20, 72) 1426236_a_at 2.”
BackgroundVitamin D regulates osteocyte survival and perilacunar remodeling in human and murine bone
Rolvien, T., Krause, M., Jeschke, A., Yorgan, T., Püschel, K., Schinke, T., Busse, B., Demay, M. B., & Amling, M. (2017) · Bone · doi:10.1016/j.bone.2017.06.022 · Cited by 74
“Similarly, in mice lacking dentin matrix protein 1 (DMP1), FGF-23 levels are increased, in association with impaired bone matrix mineralization and defective osteocyte maturation [41].”
BackgroundSympathetic Activation Induces Skeletal Fgf23 Expression in a Circadian Rhythm-dependent Manner
Kawai, M., Kinoshita, S., Shimba, S., Ozono, K., & Michigami, T. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m113.500850 · Cited by 74
Prideaux, M., Loveridge, N., Pitsillides, A. A., & Farquharson, C. (2012) · PLoS ONE · doi:10.1371/journal.pone.0036786 · Cited by 75
“Interestingly, increased E11 protein was observed in osteocytes from the DMP1-null mouse, which is characterized by diffuse osteomalacia and reduced mineral density [13].”
BackgroundBone mineralization and regulation of phosphate homeostasis
Sapir‐Koren, R., & Livshits, G. (2011) · IBMS BoneKEy · doi:10.1138/20110516 · Cited by 76
“It has been suggested that the normal low expression levels of FGF23 in osteocytes are under negative regulation due to combined, direct or indirect, suppressive signal mechanisms donated by osteocyte PHEX and DMP1 proteins (69;71), which simultaneously facilitate matrix mineralization (72).”
BackgroundBitzan, M. M., & Goodyer, P. (2018) · Pediatric Clinics of North America · doi:10.1016/j.pcl.2018.09.004 · Cited by 82
“1).(104,107,108) ARHR2 results from an inactivating mutation of the gene encoding ectonucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1), which regulates matrix vesicle pathway and pyrophosphate-mediated bone mineralization.”
BackgroundRegulation of fibroblast growth factor 23 ( FGF 23) in health and disease
Bär, L., Stournaras, C., Lang, F. J. W., & Föller, M. (2019) · FEBS Letters · doi:10.1002/1873-3468.13494 · Cited by 75
Mineralization defects in cementum and craniofacial bone from loss of bone sialoprotein
Foster, B. L., Ao, M., Willoughby, C., Soenjaya, Y., Holm, E., Lukashova, L., Tran, A. B., Wimer, H. F., Zerfas, P. M., Nociti, F. H., et al. (2015) · Bone · doi:10.1016/j.bone.2015.05.007 · Cited by 74
“Knock-out of Dmp1 revealed not only direct effects on dentin and bone [52,54], but a role in systemic phosphate homeostasis [20], while targeted ablation of in Dspp primarily targets dentin and periodontal tissues [31,75].”
BackgroundMemon, F., El‐Abbadi, M. M., Nakatani, T., Taguchi, T., Lanske, B., & Razzaque, M. S. (2008) · Kidney International · doi:10.1038/ki.2008.218 · Cited by 74
Foster, B. L., Tompkins, K. A., Rutherford, R. B., Zhang, H., Chu, E. Y., Fong, H. K., & Somerman, M. J. (2008) · Birth Defects Research Part C Embryo Today Reviews · doi:10.1002/bdrc.20136 · Cited by 78
“Autosomal recessive hypophosphatemic rickets (ARHR) is a newly classified Pi wasting disorder, in which mutations have been found in the Dmp1 gene, following the recognition that the Dmp1 null mouse has a phenotype similar to the Hyp mouse and to that of individuals afflicted with ADHR and XLH (Farrow et al., 2007).”
BackgroundInfluentialMultifunctional ECM proteins in bone and teeth
Ravindran, S., & George, A. (2014) · Experimental Cell Research · doi:10.1016/j.yexcr.2014.01.018 · Cited by 73
“Loss of DMP1 function causes rickets and osteomalacia (10) characterized by hypo-mineralized tissues and abnormal phosphate regulation influenced by altered FGF23 expression (10).”
BackgroundHyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho)
Farrow, E., Imel, E. A., & White, K. E. (2011) · Best Practice & Research Clinical Rheumatology · doi:10.1016/j.berh.2011.10.020 · Cited by 75
Self-citationClinkenbeard, E. L., Cass, T. A., Ni, P., Hum, J. M., Bellido, T., Allen, M. R., & White, K. E. (2016) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.2792 · Cited by 74
“FGF23 production in osteocytes is critical to disease models such as the Dmp1-KO mouse (modeling ARHR type 1) (16), the deletion of FGF23 from both early osteoblasts and late osteoblast/osteocytes compromises the ability to respond to phosphate challenge, thus osteoblasts and osteocytes play a significant role in phos…”
Self-citationDSPP Is Essential for Normal Development of the Dental-Craniofacial Complex
Chen, Y., Zhang, Y., Ramachandran, A., & George, A. (2015) · Journal of Dental Research · doi:10.1177/0022034515610768 · Cited by 74
“Published reports showed that DMP1-null mice exhibited low serum phosphate levels, leading to defective osteocytes and resulting in osteomalacia (Feng et al. 2006).”
BackgroundHarris, S. E., Gluhak‐Heinrich, J., Harris, M. A., Yang, W., Bonewald, L. F., Riha, D., Rowe, P. S., Robling, A. G., Turner, C. H., Feng, J. Q., et al. (2007) · PubMed · Cited by 74
Self-citationRoles of Phosphate in Skeleton
Michigami, T., & Ozono, K. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00180 · Cited by 77
The emerging role of Piezo1 in the musculoskeletal system and disease
Lei, L., Wen, Z., Cao, M., Zhang, H., Ling, S. K.-K., Fu, S., Qin, L., Xu, J., & Yung, P. S. (2024) · Theranostics · doi:10.7150/thno.96959 · Cited by 78
“Dentin matrix protein 1 (DMP1), an extracellular matrix protein belonging to the small integrin-binding ligand N-linked glycoprotein (SIBLING) family, is crucial for bone mineralization [84].”
BackgroundMolecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets
Farrow, E., Davis, S. I., Ward, L. M., Summers, L. J., Bubbear, J. S., Keen, R. W., Stamp, T. C. B., Baker, L. R. I., Bonewald, L. F., & White, K. E. (2008) · Bone · doi:10.1016/j.bone.2008.10.040 · Cited by 73
“DMP1 exons were PCR-amplified as described previously [1] with intronic primers (available upon request) using 20 ng of genomic DNA as template.”
BackgroundMethodResultInfluentialSelf-citationInduced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice
Muir, A. M., Ren, Y., Butz, D., Davis, N. A., Blank, R. D., Birk, D. E., Lee, S.-J., Rowe, D. W., Feng, J. Q., & Greenspan, D. S. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu013 · Cited by 75
Self-citationMcKee, M. D., Hoac, B., Addison, W. N., Barros, N. M. T., Millán, J. L., & Chaussain, C. (2013) · Periodontology 2000 · doi:10.1111/prd.12029 · Cited by 73
“Dentin matrix acidic phosphoprotein-1 is also thought to control phosphate homeostasis through the fibroblast growth factor-23 pathway (50), as well as through osteogenesis and dentinogenesis (138).”
The Cementocyte—An Osteocyte Relative?
Zhao, N., Foster, B. L., & Bonewald, L. F. (2016) · Journal of Dental Research · doi:10.1177/0022034516641898 · Cited by 73
Self-citationDzamukova, M. R., Brunner, T. M., Miotla‐Zarebska, J., Heinrich, F., Brylka, L., Mashreghi, M., Kusumbe, A. P., Kühn, R., Schinke, T., Vincent, T. L., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-30618-8 · Cited by 74
FGF23 and Syndromes of Abnormal Renal Phosphate Handling
Bergwitz, C., & Jüppner, H. (2012) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-0887-1_3 · Cited by 73
Santos, F., Fuente, R., Mejía, N., Mantecón, L., Gil‐Peña, H., & Ordóñez, F. Á. (2012) · Pediatric Nephrology · doi:10.1007/s00467-012-2364-9 · Cited by 71
Kim, J., Kim, J. J., Kim, Y. H., Kim, K., Ryu, S. H., Lee, T. G., & Suh, P. (2012) · Journal of Cellular Physiology · doi:10.1002/jcp.24123 · Cited by 71
“Inappropriate collagen synthesis and deposition result in osteogenesis imperfecta, which is characterized by osteopenia; the impairment of noncollagenous proteins sometimes causes osteomalacia (Feng et al., 2006; Zaidi, 2007).”
BackgroundKyono, A., Avishai, N., Ouyang, Z., Landreth, G. E., & Murakami, S. (2011) · Journal of Bone and Mineral Metabolism · doi:10.1007/s00774-011-0288-2 · Cited by 70
“Recent studies using genetically engineered mouse models have indicated that Dmp1 plays an important role in skeletal mineralization, osteoblast-osteocyte transition, and osteocyte maturation [11, 15].”
Investigating Osteocytic Perilacunar/Canalicular Remodeling
Yee, C. S., Schurman, C. A., White, C. R., & Alliston, T. N. (2019) · Current Osteoporosis Reports · doi:10.1007/s11914-019-00514-0 · Cited by 76
Sympathetic activity in breast cancer and metastasis: partners in crime
Conceição, F., Sousa, D. M., Paredes, J., & Lamghari, M. (2021) · Bone Research · doi:10.1038/s41413-021-00137-1 · Cited by 73
FGF23 and Phosphate Wasting Disorders
Huang, X., Jiang, Y., & Xia, W. (2013) · Bone Research · doi:10.4248/br201302002 · Cited by 70
DeLuca, S., Sitara, D., Kang, K., Marsell, R., Jönsson, K., Taguchi, T., Erben, R. G., Razzaque, M., & Lanske, B. (2008) · The Journal of Pathology · doi:10.1002/path.2409 · Cited by 69
“Initially identified as the causative factor in autosomal dominant hypophosphataemic rickets [1], FGF-23 has since been implicated in other isolated renal phosphate wasting disorders, including X-linked hypophosphataemic rickets [2,3], autosomal dominant hypophosphataemia [4,5], and tumour-induced osteomalacia [6].”
BackgroundLane, N. E., Parimi, N., Corr, M., Yao, W., Cauley, J. A., Nielson, C. M., Ix, J. H., Kado, D. M., ORWOLL, E. S., & for the Osteoporotic Fractures in Men (MrOS) Study Group (2013) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.1985 · Cited by 69
“Osteocytes regulate FGF23 signaling and biomineralization through molecules produced by the osteocyte and include phosphate‐regulating gene with homologies to endopeptidase on X chromosome (PHEX), dentin matrix protein‐1 (DMP1), and matrix extracellular phosphor‐glycopoteins (MEPE).((4,5)) Loss of either functional DM…”
BackgroundBone-Muscle Mutual Interactions
Lara-Castillo, N., & Johnson, M. L. (2020) · Current Osteoporosis Reports · doi:10.1007/s11914-020-00602-6 · Cited by 70
Challenges in the management of tumor-induced osteomalacia (TIO)
Brandi, M. L., Clunie, G. P. R., Houillier, P., de Beur, S. M. J., Minisola, S., Oheim, R., & Seefried, L. (2021) · Bone · doi:10.1016/j.bone.2021.116064 · Cited by 68
Crosstalk Between the Neuroendocrine System and Bone Homeostasis
Zhao, Y., Peng, X., Wang, Q., Zhang, Z., Wang, L., Xu, Y., Yang, H., Bai, J., & Geng, D. (2023) · Endocrine Reviews · doi:10.1210/endrev/bnad025 · Cited by 75
Calvi, L. M., Bromberg, O., Rhee, Y., Weber, J. M., Smith, J. N. P., Basil, M. J., Frisch, B. J., & Bellido, T. (2012) · Blood · doi:10.1182/blood-2011-06-360933 · Cited by 72
“Rat PTH (1-34) was purchased from Bachem (Torrance, CA) and resuspended in water to 400μg/ml.”
MethodRanch, D., Zhang, M. Y. H., Portale, A. A., & Perwad, F. (2011) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.401 · Cited by 68
Metadata
- Authors
- Feng, J. Q., Ward, L. M., Liu, S., Lu, Y., Xie, Y., Yuan, B., Yu, X., Rauch, F., Davis, S. I., Zhang, S., Rios, H., Drezner, M. K., Quarles, L. D., Bonewald, L. F., & White, K. E.
- Affiliations
- University of Missouri–Kansas City (US)
- University of Ottawa (CA)
- University of Kansas (US)
- University of Wisconsin–Madison (US)
- Indiana University Indianapolis (US)
- McGill University (CA)
- Corresponding author
- Ward, Leanne M
- Quarles, L Darryl
- ORCID
- Venue
- Nature Genetics
- Published
- 2006-10-08
- Volume
- 38
- Issue
- 11
- Pages
- 1310-1315
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC1839871
- OpenAlex
- W2051959338
- Cited by
- 1,199
- References
- 25
- Citations by year
- 2026: 29 · 2025: 19 · 2024: 31 · 2023: 47 · 2022: 60 · 2021: 59 · 2020: 61 · 2019: 63 · 2018: 62 · 2017: 57 · 2016: 52 · 2015: 64 · 2014: 58 · 2013: 81 · 2012: 93
- FWCI
- 46.09
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- IUScholarWorks (Indiana University) (submittedVersion)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (DK063934, R01DK063934)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR045955, R01AR051587, AR 046798, R01AR027032, AR027032, R56AR045955, R56AR027032, P01AR046798, AR051587, AR-45955)
- National Institute of Dental and Craniofacial Research (DE 13480, R29DE013480)
- Topics
- Health Sciences › Medicine › Nephrology › Parathyroid Disorders and Treatments
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Alkaline Phosphatase Research Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bone Metabolism and Diseases
- Keywords
- DMP1, osteocytes, rickets, osteomalacia, phosphate homeostasis, fibroblast growth factor 23, bone mineralization, renal phosphate wasting, start codon mutation, C-terminal deletion
- MeSH terms
- Fibroblast Growth Factor-23, Adult, Animals, Bone and Bones, Calcification, Physiologic, Cells, Cultured, DNA Mutational Analysis, Female, Fibroblast Growth Factors, Humans, Kidney, Male, Mice, Inbred C57BL, Minerals, Osteocytes, Osteomalacia, Phosphates, Phosphoproteins, Rickets, Extracellular Matrix Proteins, Mice, Knockout, Mice
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