Bardet-Biedl syndrome 3 regulates the development of cranial base midline structures.
Bardet-Biedl syndrome 3 regulates the development of cranial base midline structures.
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DOI：
10.1016/j.bone.2016.02.017
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发表时间：
2017-08
期刊：
影响因子：
4.1
通讯作者：
Noda M
中科院分区：
文献类型：
--
作者：
Kawasaki M;Izu Y;Hayata T;Ideno H;Nifuji A;Sheffield VC;Ezura Y;Noda M
Bardet-Biedl综合征（BBS）是一种常染色体隐性遗传病，属于纤毛病之一。患者表现出特征性颅面畸形，但在颅面发病过程中，Bbs3缺乏在发育过程中的作用尚不完全清楚。在这里，我们分析了BBS模型Bbs3-/-小鼠的颅脑发育。此前有报道称，这些突变小鼠的头盖骨呈圆顶状。我们发现，Bbs3-/-小鼠胚胎出现面部中部发育不全和孤立的中央上门牙。形态学上，这些突变小鼠表现出颅基底中线的软骨联合症，这是由于合并椎体内软骨联合症缺失导致的融合失败。颅底外侧扩大，纵向缩短。在发育中的颅底软骨原基中，bs3-/-胚胎中线细胞较少。在这一阶段，在中线和腹侧中脑浓缩外切间质之间的细胞群中特异性观察到BBS3的表达。最后，ATDC5细胞中基于sirna的Bbs3敲低会影响培养中的迁移。我们的数据表明，通过调节细胞向中线的迁移，BBS3是颅底发育所必需的，它们促进了外切间质的凝聚，并形成了未来颅底的软骨模板。
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.
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影响因子：
4
作者：
Scheidecker S;Etard C;Pierce NW;Geoffroy V;Schaefer E;Muller J;Chennen K;Flori E;Pelletier V;Poch O;Marion V;Stoetzel C;Strähle U;Nachury MV;Dollfus H
通讯作者：
Dollfus H
影响因子：
4
作者：
Marion, Vincent;Stutzmann, Fanny;Dollfus, Helene
通讯作者：
Dollfus, Helene
DOI：
10.1073/pnas.0402354101
发表时间：
2004-06-08
影响因子：
11.1
作者：
Mykytyn, K;Mullins, RF;Sheffield, VC
通讯作者：
Sheffield, VC
DOI：
10.1016/0922-3371(90)90079-c
发表时间：
1990-05-01
期刊：
CELL DIFFERENTIATION AND DEVELOPMENT
影响因子：
--
作者：
ATSUMI, T;MIWA, Y;IKAWA, Y
通讯作者：
IKAWA, Y
影响因子：
7.3
作者：
Bijlsma, Maarten F.;Damhofer, Helene;Roelink, Henk
通讯作者：
Roelink, Henk