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Bardet-Biedl syndrome 3 regulates the development of cranial base midline structures
- Source :
- Bone. 101
- Publication Year :
- 2015
-
Abstract
- Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder and is classified as one of the ciliopathy. The patients manifest a characteristic craniofacial dysmorphology but the effects of Bbs3 deficiency in the developmental process during the craniofacial pathogenesis are still incompletely understood. Here, we analyzed a cranial development of a BBS model Bbs3-/- mouse. It was previously reported that these mutant mice exhibit a dome-shape cranium. We show that Bbs3-/- mouse embryos present mid-facial hypoplasia and solitary central upper incisor. Morphologically, these mutant mice show synchondrosis of the cranial base midline due to the failure to fuse in association with loss of intrasphenoidal synchondrosis. The cranial base was laterally expanded and longitudinally shortened. In the developing cartilaginous primordium of cranial base, cells present in the midline were less in Bbs3-/- embryos. Expression of BBS3 was observed specifically in a cell population lying between condensed ectomesenchyme in the midline and the ventral midbrain at this stage. Finally, siRNA-based knockdown of Bbs3 in ATDC5 cells impaired migration in culture. Our data suggest that BBS3 is required for the development of cranial base via regulation of cell migration toward the midline where they promote the condensation of ectomesenchyme and form the future cartilaginous templates of cranial base.
- Subjects :
- 0301 basic medicine
Male
Histology
Physiology
Endocrinology, Diabetes and Metabolism
Ectomesenchyme
Population
Synchondrosis
Fluorescent Antibody Technique
Biology
Article
03 medical and health sciences
Mice
0302 clinical medicine
Bardet–Biedl syndrome
medicine
Animals
Craniofacial
education
Bardet-Biedl Syndrome
Zebrafish
Mice, Knockout
Skull Base
education.field_of_study
ADP-Ribosylation Factors
Cell migration
Anatomy
X-Ray Microtomography
Zebrafish Proteins
medicine.disease
Immunohistochemistry
Hypoplasia
Mice, Inbred C57BL
Ciliopathy
030104 developmental biology
Phenotype
Mutation
Female
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 18732763
- Volume :
- 101
- Database :
- OpenAIRE
- Journal :
- Bone
- Accession number :
- edsair.doi.dedup.....74ac367b72dd37bfee81f6c79695f8f8