期刊
HUMAN MOLECULAR GENETICS
卷 21, 期 22, 页码 4904-4909出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/dds326
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资金
- National Institutes of Health [P01 HD070394, P01 HD22657, R01 DK067145]
- Shriners Hospitals for Children
- Rolanette and Berdon Lawrence Bone Disease Program of Texas
- Howard Hughes Medical Institutes Med in Grad Initiative
- Canadian Institutes of Health Research
Dysosteosclerosis (DSS) is the form of osteopetrosis distinguished by the presence of skin findings such as red-violet macular atrophy, platyspondyly and metaphyseal osteosclerosis with relative radiolucency of widened diaphyses. At the histopathological level, there is a paucity of osteoclasts when the disease presents. In two patients with DSS, we identified homozygous or compound heterozygous missense mutations in SLC29A3 by whole-exome sequencing. This gene encodes a nucleoside transporter, mutations in which cause histiocytosislymphadenopathy plus syndrome, a group of conditions with little or no skeletal involvement. This transporter is essential for lysosomal function in mice. We demonstrate the expression of Slc29a3 in mouse osteoclasts in vivo. In monocytes from patients with DSS, we observed reduced osteoclast differentiation and function (demineralization of calcium surface). Our report highlights the pleomorphic consequences of dysfunction of this nucleoside transporter, and importantly suggests a new mechanism for the control of osteoclast differentiation and function.
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