Evidence for association of multi-exon skipping events with tumors

Alternative splicing(AS)has been shown to be frequently present in human tumors.Specifically,it has been observed in some experimental studies thatmulti-exon skipping(MES)events often appear in tumorous tissues.Prompted by this observation,we conducted a genome-wide analysis of MES events to investigate their association with tumors.The results show that MES events are more likely associated with tumors than single-exon skipping(SES)and the degree of association increases with the num-ber of skipped exons.Furthermore,MES events are found to be less conserved than their SES counterparts,which provides additional evidence for our results because dis-ease-associated AS events should be eliminated during evolution.Interestingly,these differences still existed even after comparison of MES and SES events with similar-length skipped regions.These results demonstrate that MES events may be associated with tumors and suggest that MES isoforms might be useful in cancer diagnosis.

利用交错式热不对称PCR法获取多脊椎蒙古羊Hoxc8启动子序列的研究

[目的]探索获得蒙古羊Hoxc8基因启动子序列的方法。[方法]尝试利用交错式热不对称PCR法,获得蒙古羊Hoxc8启动子序列。[结果]通过PCR获得的序列不理想,测序结果无法与已知序列相匹配。虽然利用交错式热不对称PCR法未获得蒙古羊的Hoxc8的启动子序列,但可为今后的相关研究提供借鉴。[结论]该研究为进一步分析蒙古羊Hoxc8的启动子区域的甲基化状态奠定了基础。

多脊椎蒙古羊Hoxc8 exon-1和exon-2的序列分析

参考牛的Hoxc8基因序列设计引物,扩增正常蒙古羊(胸椎数13)和多脊椎蒙古羊(胸椎数14)Hoxc8的exon-1和exon-2基因,对得到的序列进行生物信息学分析。结果表明,经序列比对二者的DNA序列,除两侧个别碱基有差异外,中间序列完全一致。蒙古羊Hoxc8的exon-1和exon-2序列分别与其他物种进行同源性比对,蒙古羊Hoxc8 exon-1与人、小鼠、大鼠、犬的同源性达到96%以上,与斑马鱼的同源性为75.8%;exon-2与大猩猩、犬、人、小鼠、大鼠的同源性达到91%以上,与斑马鱼的同源性为74%。

基于平滑LDA的RNA-Seq数据表达分析研究

RNA-Seq是目前转录组研究的一种重要技术,针对RNA-Seq数据分析中读段的多源映射,参考序列分布的不均匀性,一些转录本中外显子分布稀疏以及跨结合区读段处理问题,提出了一个新的转录组表达研究模型sLDASeqQ该模型根据基因中转录本注释信息对模型参数进行约束,对跨结合区的读段按长度分配处理,解决了读段非均匀分布和跨结合区问题;在模型中增加一个超参数,从而解决了外显子的稀疏问题。将该模型应用到3个真实的数据集上,并与其他主流方法进行比较,结果表明该模型获得了较为准确的基因以及转录本表达水平计算结果。