DNA 聚合酶 ε 会在甲基化的 CpG 二核苷酸上产生较高的 C-T 突变。

IF 31.7 1区生物学 Q1 GENETICS & HEREDITY

Nature genetics Pub Date : 2024-10-09 DOI:10.1038/s41588-024-01946-w

{"title":"DNA 聚合酶 ε 会在甲基化的 CpG 二核苷酸上产生较高的 C-T 突变。","authors":"","doi":"10.1038/s41588-024-01946-w","DOIUrl":null,"url":null,"abstract":"C-to-T mutations in CpG dinucleotides are widespread in cancers and are also observed in normal cells. By developing and using a technique to quantify DNA polymerase errors (polymerase error rate sequencing, PER-seq), we reveal that C-to-T mutations in CpG dinucleotides constitute part of the error signature of both wild-type and mutant cancer-associated DNA polymerase ε.","PeriodicalId":18985,"journal":{"name":"Nature genetics","volume":"56 11","pages":"2304-2305"},"PeriodicalIF":31.7000,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides\",\"authors\":\"\",\"doi\":\"10.1038/s41588-024-01946-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"C-to-T mutations in CpG dinucleotides are widespread in cancers and are also observed in normal cells. By developing and using a technique to quantify DNA polymerase errors (polymerase error rate sequencing, PER-seq), we reveal that C-to-T mutations in CpG dinucleotides constitute part of the error signature of both wild-type and mutant cancer-associated DNA polymerase ε.\",\"PeriodicalId\":18985,\"journal\":{\"name\":\"Nature genetics\",\"volume\":\"56 11\",\"pages\":\"2304-2305\"},\"PeriodicalIF\":31.7000,\"publicationDate\":\"2024-10-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nature genetics\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://www.nature.com/articles/s41588-024-01946-w\",\"RegionNum\":1,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nature genetics","FirstCategoryId":"99","ListUrlMain":"https://www.nature.com/articles/s41588-024-01946-w","RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

摘要

CpG二核苷酸中的C-to-T突变广泛存在于癌症中，在正常细胞中也能观察到。通过开发和使用一种量化DNA聚合酶错误的技术（聚合酶错误率测序，PER-seq），我们发现CpG二核苷酸中的C-to-T突变构成了野生型和突变型癌症相关DNA聚合酶ε错误特征的一部分。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides

查看原文本刊更多论文

DNA polymerase ε produces elevated C-to-T mutations at methylated CpG dinucleotides

C-to-T mutations in CpG dinucleotides are widespread in cancers and are also observed in normal cells. By developing and using a technique to quantify DNA polymerase errors (polymerase error rate sequencing, PER-seq), we reveal that C-to-T mutations in CpG dinucleotides constitute part of the error signature of both wild-type and mutant cancer-associated DNA polymerase ε.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Nature genetics 生物-遗传学

CiteScore

43.00

自引率

2.60%

发文量

241

审稿时长

3 months

期刊介绍： Nature Genetics publishes the very highest quality research in genetics. It encompasses genetic and functional genomic studies on human and plant traits and on other model organisms. Current emphasis is on the genetic basis for common and complex diseases and on the functional mechanism, architecture and evolution of gene networks, studied by experimental perturbation. Integrative genetic topics comprise, but are not limited to: -Genes in the pathology of human disease -Molecular analysis of simple and complex genetic traits -Cancer genetics -Agricultural genomics -Developmental genetics -Regulatory variation in gene expression -Strategies and technologies for extracting function from genomic data -Pharmacological genomics -Genome evolution