De novo identification and quantification of single amino-acid variants in human brain
文献类型：期刊论文
| 作者 | Su, ZD; Sheng, QH; Li, QR; Chi, H; Jiang, X; Yan, Z; Fu, N; He, SM; Khaitovich, P; Wu, JR |
| 刊名 | JOURNAL OF MOLECULAR CELL BIOLOGY
 |
| 出版日期 | 2014 |
| 卷号 | 6期号:5页码:421-433 |
| 关键词 | single amino-acid variants (SAVs) de novo proteomics human brain tissues |
| 通讯作者 | Wu, JR (reprint author), Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Biochem & Cell Biol, Key Lab Syst Biol, Shanghai 200031, Peoples R China.,wujr@sibs.ac.cn ; zr@sibs.ac.cn |
| 英文摘要 | The detection of single amino-acid variants (SAVs) usually depends on single-nucleotide polymorphisms (SNPs) database. Here, we describe a novel method that discovers SAVs at proteome level independent of SNPs data. Using mass spectrometry-based de novo sequencing algorithm, peptide-candidates are identified and compared with theoretical protein database to generate SAVs under pairing strategy, which is followed by database re-searching to control false discovery rate. In human brain tissues, we can confidently identify known and novel protein variants with diverse origins. Combined with DNA/RNA sequencing, we verify SAVs derived from DNA mutations, RNA alternative splicing, and unknown post-transcriptional mechanisms. Furthermore, quantitative analysis in human brain tissues reveals several tissue-specific differential expressions of SAVs. This approach provides a novel access to high-throughput detection of protein variants, which may offer the potential for clinical biomarker discovery and mechanistic research. |
| 学科主题 | Cell Biology |
| 类目[WOS] | Cell Biology |
| 关键词[WOS] | TRANSFER-RNA SYNTHETASE ; MASS-SPECTROMETRY ; C-TRAP ; PROTEOMICS ; PROTEINS ; POLYMORPHISMS ; PEPTIDES ; GENOMICS ; GENE ; DEFICIENCY |
| 收录类别 | SCI |
| 语种 | 英语 |
| WOS记录号 | WOS:000344615900007 |
| 版本 | 出版稿 |
| 源URL | [http://202.127.25.143/handle/331003/184]  |
| 专题 | 上海生化细胞研究所_上海生科院生化细胞研究所 |
| 推荐引用方式 GB/T 7714 | Su, ZD,Sheng, QH,Li, QR,et al. De novo identification and quantification of single amino-acid variants in human brain[J]. JOURNAL OF MOLECULAR CELL BIOLOGY,2014,6(5):421-433. |
| APA | Su, ZD.,Sheng, QH.,Li, QR.,Chi, H.,Jiang, X.,...&Zeng, R.(2014).De novo identification and quantification of single amino-acid variants in human brain.JOURNAL OF MOLECULAR CELL BIOLOGY,6(5),421-433. |
| MLA | Su, ZD,et al."De novo identification and quantification of single amino-acid variants in human brain".JOURNAL OF MOLECULAR CELL BIOLOGY 6.5(2014):421-433. |
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