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De novo identification and quantification of single amino-acid variants in human brain Free
Zhi-Duan Su1,†, Quan-Hu Sheng1,†, Qing-Run Li1, Hao Chi2, Xi Jiang3, Zheng Yan3, Ning Fu1, Si-Min He2, Philipp Khaitovich3, Jia-Rui Wu1,*, and Rong Zeng1,*
1Key Laboratory of Systems Biology, Chinese Academy of Sciences, Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Shanghai 200031, China
2Institute of Computing Technology, Chinese Academy of Sciences, Beijing 100190, China
3Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Chinese Academy of Sciences, Shanghai 200031, China *Correspondence to:Jia-Rui Wu, E-mail: wujr@sibs.ac.cn; Rong Zeng, E-mail: zr@sibs.ac.cn
J Mol Cell Biol, Volume 6, Issue 5, October 2014, 421-433,  https://doi.org/10.1093/jmcb/mju031
Keyword: single amino-acid variants (SAVs); de novo; proteomics human brain tissues

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.