Large-scale identification and characterization of alternative splicing variants of human gene transcripts using 56 419 completely sequenced and manually annotated full-length cDNAs
Large-scale identification and characterization of alternative splicing variants of human gene transcripts using 56 419 completely sequenced and manually annotated full-length cDNAs
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DOI：
10.1093/nar/gkl507
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发表时间：
2006-01-01
影响因子：
14.9
通讯作者：
Imanishi, Tadashi
中科院分区：
文献类型：
--
作者：
Takeda, Jun-ichi;Suzuki, Yutaka;Imanishi, Tadashi
我们报告的第一个全基因组的识别和表征的选择性剪接在人类基因转录的基础上分析的全长cDNAs。应用手动和计算分析的56 419完全测序和精确注释的全长cDNA选择的H-邀请人类转录组注释会议，我们确定了6877个选择性剪接基因与18 297个不同的选择性剪接变异。共有37670个外显子参与了这些选择性剪接事件。在6877个基因中，有6005个基因的编码蛋白质序列受到影响。值得注意的是，选择性剪接影响3015个基因的蛋白质基序，2982个基因的亚细胞定位和1348个基因的跨膜结构域。我们还发现了有趣的选择性剪接模式，其中两个不同的基因似乎是桥接的，嵌套的或具有不同阅读框架的重叠蛋白质编码序列（CDS）（多个CDS）。在这些情况下，完全不相关的蛋白质由单个基因座编码。选择性剪接的全基因组注释，依赖于全长cDNA，应该为详细探索蛋白质功能的多样化奠定坚实的基础，这是由快速扩展的选择性剪接变体的宇宙所介导的。
We report the first genome-wide identification and characterization of alternative splicing in human gene transcripts based on analysis of the full-length cDNAs. Applying both manual and computational analyses for 56 419 completely sequenced and precisely annotated full-length cDNAs selected for the H-Invitational human transcriptome annotation meetings, we identified 6877 alternative splicing genes with 18 297 different alternative splicing variants. A total of 37 670 exons were involved in these alternative splicing events. The encoded protein sequences were affected in 6005 of the 6877 genes. Notably, alternative splicing affected protein motifs in 3015 genes, subcellular localizations in 2982 genes and transmembrane domains in 1348 genes. We also identified interesting patterns of alternative splicing, in which two distinct genes seemed to be bridged, nested or having overlapping protein coding sequences (CDSs) of different reading frames (multiple CDS). In these cases, completely unrelated proteins are encoded by a single locus. Genome-wide annotations of alternative splicing, relying on full-length cDNAs, should lay firm groundwork for exploring in detail the diversification of protein function, which is mediated by the fast expanding universe of alternative splicing variants.