首页> 美国卫生研究院文献>Journal of Genomics >Characterization of Distinct Classes of Differential Gene Expression in Osteoblast Cultures from Non-Syndromic Craniosynostosis Bone
【2h】

Characterization of Distinct Classes of Differential Gene Expression in Osteoblast Cultures from Non-Syndromic Craniosynostosis Bone

机译:从非综合征性颅骨前突骨的成骨细胞培养中差异基因表达的不同类别的表征。

代理获取
本网站仅为用户提供外文OA文献查询和代理获取服务,本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文,但由于OA文献来源多样且变更频繁,仍可能出现获取不到、文献不完整或与标题不符等情况,如果获取不到我们将提供退款服务。请知悉。

摘要

Craniosynostosis, the premature fusion of one or more skull sutures, occurs in approximately 1 in 2500 infants, with the majority of cases non-syndromic and of unknown etiology. Two common reasons proposed for premature suture fusion are abnormal compression forces on the skull and rare genetic abnormalities. Our goal was to evaluate whether different sub-classes of disease can be identified based on total gene expression profiles. RNA-Seq data were obtained from 31 human osteoblast cultures derived from bone biopsy samples collected between 2009 and 2011, representing 23 craniosynostosis fusions and 8 normal cranial bones or long bones. No differentiation between regions of the skull was detected, but variance component analysis of gene expression patterns nevertheless supports transcriptome-based classification of craniosynostosis. Cluster analysis showed 4 distinct groups of samples; 1 predominantly normal and 3 craniosynostosis subtypes. Similar constellations of sub-types were also observed upon re-analysis of a similar dataset of 199 calvarial osteoblast cultures. Annotation of gene function of differentially expressed transcripts strongly implicates physiological differences with respect to cell cycle and cell death, stromal cell differentiation, extracellular matrix (ECM) components, and ribosomal activity. Based on these results, we propose non-syndromic craniosynostosis cases can be classified by differences in their gene expression patterns and that these may provide targets for future clinical intervention.
机译:颅骨融合症是一种或多种颅骨缝线的过早融合,大约每2500名婴儿中就有1名发生,大多数病例是非综合症且病因不明。提出过早缝合融合的两个常见原因是头骨上的压力异常和罕见的遗传异常。我们的目标是根据总基因表达谱评估是否可以鉴定出不同的疾病亚类。 RNA-Seq数据是从2009年至2011年收集的31例人类成骨细胞培养物中获得的,这些数据来自23例颅骨前突融合和8例正常颅骨或长骨。没有检测到颅骨区域之间的差异,但是基因表达模式的方差分析仍然支持基于转录组的颅突联合症分类。聚类分析显示了4个不同的样本组。 1种主要是正常的,3种是颅突神经病。重新分析199个颅骨成骨细胞培养物的类似数据集后,也观察到了类似的亚型星座。差异表达的转录本的基因功能注释强烈暗示了与细胞周期和细胞死亡,基质细胞分化,细胞外基质(ECM)成分和核糖体活性有关的生理差异。根据这些结果,我们建议可以通过基因表达方式的差异来分类非综合征性颅骨融合症病例,并为将来的临床干预提供目标。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
代理获取

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号