Prospective signs of cleidocranial dysplasia in Cebpb deficiency.
Prospective signs of cleidocranial dysplasia in Cebpb deficiency.
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DOI：
10.1186/1423-0127-21-44
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发表时间：
2014-05-13
影响因子：
11
通讯作者：
Bessho K
中科院分区：
文献类型：
--
作者：
Huang B;Takahashi K;Jennings EA;Pumtang-On P;Kiso H;Togo Y;Saito K;Sugai M;Akira S;Shimizu A;Bessho K
尽管侏儒相关转录因子2（RUNX 2）被认为是锁骨颅骨发育不良（CCD）的决定因素，但一些CCD患者没有RUNX 2突变。CCAAT/增强子结合蛋白β（Cebpb）是Runx 2表达的关键因子，我们先前的研究报告了Cebpb缺陷小鼠的两种CCD体征，包括下颌骨肥大和冠状突延长。随后，本工作旨在使用Cebpb-/-、Cebpb+/-和Cebpb+/+成年小鼠样本进行胸部、躯干和咀嚼肌形态的病例对照研究，以提出肌肉骨骼表型与Cebpb缺乏之间的关联。分别用软X射线和微计算机断层扫描（μCT）检查小鼠的骨骼和头骨。根据μCT确定的解剖标志，采用坐标几何学和三角函数法评估颧骨倾斜度。收集咬肌和颞肌并称重。用逆转录聚合酶链反应（RT-PCR）技术检测Cebpb的表达。Cebpb-/-小鼠显示锁骨发育不良、胸廓狭窄和下颌弓向下倾斜（p < 0.001）。尽管Cebpb+/-小鼠未显示上述表型（p = 0.357），但在Cebpb+/-同窝出生的小鼠中观察到颞肌的质量百分比大于咬肌（p = 0.012）。Cebpb mRNA在锁骨、颞肌和咬肌中均有表达。在Cebpb缺乏的小鼠中发现了CCD的预期体征。这可能是CCD的另一个病因。Cebpb，Runx 2和肌肉骨骼发育之间的相互作用的后续调查表明。
Although runt-related transcription factor 2 (RUNX2) has been considered a determinant of cleidocranial dysplasia (CCD), some CCD patients were free of RUNX2 mutations. CCAAT/enhancer-binding protein beta (Cebpb) is a key factor of Runx2 expression and our previous study has reported two CCD signs including hyperdontia and elongated coronoid process of the mandible in Cebpb deficient mice. Following that, this work aimed to conduct a case-control study of thoracic, zygomatic and masticatory muscular morphology to propose an association between musculoskeletal phenotypes and deficiency of Cebpb, using a sample of Cebpb-/-, Cebpb+/- and Cebpb+/+ adult mice. Somatic skeletons and skulls of mice were inspected with soft x-rays and micro-computed tomography (μCT), respectively. Zygomatic inclination was assessed using methods of coordinate geometry and trigonometric function on anatomic landmarks identified with μCT. Masseter and temporal muscles were collected and weighed. Expression of Cebpb was examined with a reverse transcriptase polymerase chain reaction (RT-PCR) technique. Cebpb-/- mice displayed hypoplastic clavicles, a narrow thoracic cage, and a downward tilted zygomatic arch (p < 0.001). Although Cebpb+/- mice did not show the phenotypes above (p = 0.357), a larger mass percentage of temporal muscles over masseter muscles was seen in Cebpb+/- littermates (p = 0.012). The mRNA expression of Cebpb was detected in the clavicle, the zygoma, the temporal muscle and the masseter muscle, respectively. Prospective signs of CCD were identified in mice with Cebpb deficiency. These could provide an additional aetiological factor of CCD. Succeeding investigation into interactions among Cebpb, Runx2 and musculoskeletal development is indicated.
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DOI：
10.1016/j.tripleo.2004.03.011
发表时间：
2005-02-01
影响因子：
--
作者：
Furuuchi, T;Kochi, S;Igari, K
通讯作者：
Igari, K
影响因子：
3.1
作者：
Suda, N.;Hattori, M.;Moriyama, K.
通讯作者：
Moriyama, K.
影响因子：
--
作者：
MAXWELL, LC;CARLSON, DS;FAULKNER, JA
通讯作者：
FAULKNER, JA
Osf2/Cbfa1：成骨细胞分化的转录激活因子
影响因子：
64.5
作者：
Ducy, P;Zhang, R;Karsenty, G
通讯作者：
Karsenty, G
影响因子：
4.8
作者：
Gutierrez, S;Javed, A;Lian, JB
通讯作者：
Lian, JB