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In this study, a set of 646 ubiquitous expression-invariable genes (EIGs) which are present in germline cells were defined and examined based on RNA-sequencing data from multiple high-throughput transcriptomic data. We demonstrated a relationship between gene expression level and transcript-centric mutations in the human genome based on single nucleotide polymorphism (SNP) data. A significant positive correlation was shown between gene expression and mutation, where highly-expressed genes accumulate more mutations than lowly-expressed genes. Furthermore, we found four major types of transcript-centric mutations: C\u2192T, A\u2192G, C\u2192G, and G\u2192T in human genomes and identified a negative gradient of the sequence variations aligning from the 5\u2032 end to the 3\u2032 end of the transcription units (TUs). The periodical occurrence of these genetic variations across TUs is associated with nucleosome phasing. We propose that transcript-centric mutations are one of the major driving forces for gene and genome evolution along with creation of new genes, gene\/genome duplication, and horizontal gene transfer.<\/jats:p>","DOI":"10.1016\/s1672-0229(11)60029-6","type":"journal-article","created":{"date-parts":[[2012,3,23]],"date-time":"2012-03-23T19:31:35Z","timestamp":1332531095000},"page":"11-22","source":"Crossref","is-referenced-by-count":24,"title":["The Transcript-Centric Mutations in Human Genomes"],"prefix":"10.1093","volume":"10","author":[{"given":"Peng","family":"Cui","sequence":"first","affiliation":[{"name":"CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing, 100029 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiang","family":"Lin","sequence":"additional","affiliation":[{"name":"CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing, 100029 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng","family":"Ding","sequence":"additional","affiliation":[{"name":"CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing, 100029 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Songnian","family":"Hu","sequence":"additional","affiliation":[{"name":"CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing, 100029 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Yu","sequence":"additional","affiliation":[{"name":"CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing, 100029 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2012,3,23]]},"reference":[{"key":"2024051008293064600_bib1","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1101\/gr.189102","article-title":"Compositional gradients in Gramineae genes","volume":"12","author":"Wong","year":"2002","journal-title":"Genome Res."},{"key":"2024051008293064600_bib2","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1146\/annurev.genet.38.072902.092448","article-title":"Repair and genetic consequences of endogenous DNA base damage in mammalian cells","volume":"38","author":"Barnes","year":"2004","journal-title":"Annu. 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