Nature Communications (Apr 2021)
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling
- Long Guo,
- Aritoshi Iida,
- Gandham SriLakshmi Bhavani,
- Kalpana Gowrishankar,
- Zheng Wang,
- Jing-yi Xue,
- Juan Wang,
- Noriko Miyake,
- Naomichi Matsumoto,
- Takanori Hasegawa,
- Yusuke Iizuka,
- Masashi Matsuda,
- Tomoki Nakashima,
- Masaki Takechi,
- Sachiko Iseki,
- Shinsei Yambe,
- Gen Nishimura,
- Haruhiko Koseki,
- Chisa Shukunami,
- Katta M. Girisha,
- Shiro Ikegawa
Affiliations
- Long Guo
- Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences
- Aritoshi Iida
- Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences
- Gandham SriLakshmi Bhavani
- Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education
- Kalpana Gowrishankar
- Kanchi Kamakoti CHILDS Trust Hospital
- Zheng Wang
- Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences
- Jing-yi Xue
- Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences
- Juan Wang
- Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences
- Noriko Miyake
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Naomichi Matsumoto
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Takanori Hasegawa
- Laboratory for Developmental Genetics, RIKEN Center for Integrative Medical Sciences
- Yusuke Iizuka
- Laboratory for Developmental Genetics, RIKEN Center for Integrative Medical Sciences
- Masashi Matsuda
- Laboratory for Developmental Genetics, RIKEN Center for Integrative Medical Sciences
- Tomoki Nakashima
- Department of Cell Signaling, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University
- Masaki Takechi
- Department of Molecular Craniofacial Embryology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University
- Sachiko Iseki
- Department of Molecular Craniofacial Embryology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University
- Shinsei Yambe
- Department of Molecular Biology and Biochemistry, Graduate School of Biomedical and Health Sciences, Hiroshima University
- Gen Nishimura
- Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences
- Haruhiko Koseki
- Laboratory for Developmental Genetics, RIKEN Center for Integrative Medical Sciences
- Chisa Shukunami
- Department of Molecular Biology and Biochemistry, Graduate School of Biomedical and Health Sciences, Hiroshima University
- Katta M. Girisha
- Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education
- Shiro Ikegawa
- Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences
- DOI
- https://doi.org/10.1038/s41467-021-22340-8
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 13
Abstract
Sclerosing bone disorder (SBD) includes a broad spectrum of monogenic diseases characterised by increased bone density. Here, the authors describe a previously unknown SBD in four families caused by mutations in TMEM53 and demonstrate the role this protein plays in BMP signalling during bone formation.
