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评估人类基因组中祖先可变剪接外显子的数量。

Assessing the number of ancestral alternatively spliced exons in the human genome.

作者信息

Sorek Rotem, Dror Gideon, Shamir Ron

机构信息

Department of Human Genetics, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.

出版信息

BMC Genomics. 2006 Oct 24;7:273. doi: 10.1186/1471-2164-7-273.

Abstract

BACKGROUND

It is estimated that between 35% and 74% of all human genes undergo alternative splicing. However, as a gene that undergoes alternative splicing can have between one and dozens of alternative exons, the number of alternatively spliced genes by itself is not informative enough. An additional parameter, which was not addressed so far, is therefore the number of human exons that undergo alternative splicing. We have previously described an accurate machine-learning method allowing the detection of conserved alternatively spliced exons without using ESTs, which relies on specific features of the exon and its genomic vicinity that distinguish alternatively spliced exons from constitutive ones.

RESULTS

In this study we use the above-described approach to calculate that 7.2% (+/- 1.1%) of all human exons that are conserved in mouse are alternatively spliced in both species.

CONCLUSION

This number is the first estimation for the extent of ancestral alternatively spliced exons in the human genome.

摘要

背景

据估计,所有人类基因中有35%至74%会发生可变剪接。然而,由于一个发生可变剪接的基因可能有一到几十个可变外显子,仅可变剪接基因的数量本身信息并不足够。因此,一个迄今未被探讨的额外参数是发生可变剪接的人类外显子数量。我们之前描述了一种精确的机器学习方法,该方法无需使用ESTs就能检测保守的可变剪接外显子,它依赖于外显子及其基因组邻域的特定特征,这些特征可将可变剪接外显子与组成型外显子区分开来。

结果

在本研究中,我们使用上述方法计算得出,在小鼠中保守的所有人类外显子中有7.2%(±1.1%)在两个物种中都发生了可变剪接。

结论

这个数字是对人类基因组中祖先可变剪接外显子范围的首次估计。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6109/1635713/90a9446592e2/1471-2164-7-273-1.jpg

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