Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia
Raine syndrome is associated with loss-of-function mutations of FAM20C. Here we show that Raine-originated mutations abrogate the interaction between FAM20C and C4ST-1 to alter chondroitin sulfate sulfation status and impact biomineralization in vitro and bone mineral density in vivo in mouse models...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2022-12-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-022-35687-3 |
| _version_ | 1828083304453111808 |
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| author | Toshiyasu Koike Tadahisa Mikami Jun-Ichi Tamura Hiroshi Kitagawa |
| author_facet | Toshiyasu Koike Tadahisa Mikami Jun-Ichi Tamura Hiroshi Kitagawa |
| author_sort | Toshiyasu Koike |
| collection | DOAJ |
| description | Raine syndrome is associated with loss-of-function mutations of FAM20C. Here we show that Raine-originated mutations abrogate the interaction between FAM20C and C4ST-1 to alter chondroitin sulfate sulfation status and impact biomineralization in vitro and bone mineral density in vivo in mouse models, thereby serving clues for Raine syndrome etiology. |
| first_indexed | 2024-04-11T04:06:53Z |
| format | Article |
| id | doaj.art-f008f0dc8afc4cdd9af0e56181113107 |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-04-11T04:06:53Z |
| publishDate | 2022-12-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-f008f0dc8afc4cdd9af0e561811131072023-01-01T12:22:55ZengNature PortfolioNature Communications2041-17232022-12-0113111510.1038/s41467-022-35687-3Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasiaToshiyasu Koike0Tadahisa Mikami1Jun-Ichi Tamura2Hiroshi Kitagawa3Laboratory of Biochemistry, Kobe Pharmaceutical UniversityLaboratory of Biochemistry, Kobe Pharmaceutical UniversityDepartment of Agricultural, Life and Environmental Sciences, Faculty of Agriculture, Tottori UniversityLaboratory of Biochemistry, Kobe Pharmaceutical UniversityRaine syndrome is associated with loss-of-function mutations of FAM20C. Here we show that Raine-originated mutations abrogate the interaction between FAM20C and C4ST-1 to alter chondroitin sulfate sulfation status and impact biomineralization in vitro and bone mineral density in vivo in mouse models, thereby serving clues for Raine syndrome etiology.https://doi.org/10.1038/s41467-022-35687-3 |
| spellingShingle | Toshiyasu Koike Tadahisa Mikami Jun-Ichi Tamura Hiroshi Kitagawa Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia Nature Communications |
| title | Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia |
| title_full | Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia |
| title_fullStr | Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia |
| title_full_unstemmed | Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia |
| title_short | Altered sulfation status of FAM20C-dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia |
| title_sort | altered sulfation status of fam20c dependent chondroitin sulfate is associated with osteosclerotic bone dysplasia |
| url | https://doi.org/10.1038/s41467-022-35687-3 |
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