期刊
FRONTIERS IN GENETICS
卷 12, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2021.616329
关键词
hemifacial microsomia; ITPR1; PLCB4; DLX5; DLX6; zebrafish
资金
- National Natural Science Foundation of China [82001027, 82071096, 81802697]
- National Key Research and Development Project [2017YFC1001800]
- Innovative Research Team of Highlevel Local Universities in Shanghai [SSMU-ZLCX20180501]
- SHIPM-pi fund from the Shanghai Institute of Precision Medicine Ninth People's Hospital Shanghai Jiao Tong University
- Rare Disease Registration Platform of Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine
The study revealed the crucial role of ITPR1 in craniofacial development and suggested that mutations in ITPR1 may contribute to hemifacial microsomia.
Hemifacial microsomia (HM) is a craniofacial congenital defect involving the first and second branchial arch, mainly characterized by ocular, ear, maxilla-zygoma complex, mandible, and facial nerve malformation. HM follows autosomal dominant inheritance. Whole-exome sequencing of a family revealed a missense mutation in a highly conserved domain of ITPR1. ITPR1 is a calcium ion channel. By studying ITPR1's expression pattern, we found that ITPR1 participated in craniofacial development, especially the organs that corresponded to the phenotype of HM. In zebrafish, itpr1b, which is homologous to human ITPR1, is closely related to craniofacial bone formation. The knocking down of itpr1b in zebrafish could lead to a remarkable decrease in craniofacial skeleton formation. qRT-PCR suggested that knockdown of itpr1b could increase the expression of plcb4 while decreasing the mRNA level of Dlx5/6. Our findings highlighted ITPR1's role in craniofacial formation for the first time and suggested that ITPR1 mutation contributes to human HM.
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