• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

采用短读长读测序对白血病细胞系 REH 进行多组学特征分析。

A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing.

机构信息

https://ror.org/048a87296 Department of Medical Sciences, Uppsala University, Uppsala, Sweden.

https://ror.org/048a87296 SciLifeLab, Uppsala University, Uppsala, Sweden.

出版信息

Life Sci Alliance. 2024 May 22;7(8). doi: 10.26508/lsa.202302481. Print 2024 Aug.

DOI:10.26508/lsa.202302481
PMID:38777370
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11111970/
Abstract

The B-cell acute lymphoblastic leukemia (ALL) cell line REH, with the t(12;21) translocation, is known to have a complex karyotype defined by a series of large-scale chromosomal rearrangements. Taken from a 15-yr-old at relapse, the cell line offers a practical model for the study of pediatric B-ALL. In recent years, short- and long-read DNA and RNA sequencing have emerged as a complement to karyotyping techniques in the resolution of structural variants in an oncological context. Here, we explore the integration of long-read PacBio and Oxford Nanopore whole-genome sequencing, IsoSeq RNA sequencing, and short-read Illumina sequencing to create a detailed genomic and transcriptomic characterization of the REH cell line. Whole-genome sequencing clarified the molecular traits of disrupted ALL-associated genes including , , , , and , as well as the glucocorticoid receptor Meanwhile, transcriptome sequencing identified seven fusion genes within the genomic breakpoints. Together, our extensive whole-genome investigation makes high-quality open-source data available to the leukemia genomics community.

摘要

B 细胞急性淋巴细胞白血病 (ALL) 细胞系 REH 具有 t(12;21) 易位，其特征是一系列大规模染色体重排导致的复杂核型。该细胞系取自一名 15 岁复发的患者，为研究儿科 B-ALL 提供了一个实用的模型。近年来，短读长和长读长 DNA 和 RNA 测序已成为核型分析技术的补充，可在肿瘤学背景下解析结构变异。在这里，我们探索了长读长 PacBio 和 Oxford Nanopore 全基因组测序、IsoSeq RNA 测序和短读长 Illumina 测序的整合，以对 REH 细胞系进行详细的基因组和转录组特征分析。全基因组测序阐明了被破坏的 ALL 相关基因的分子特征，包括 、 、 、 、 和 ，以及糖皮质激素受体 。同时，转录组测序在基因组断裂点识别出了七个融合基因。总的来说，我们广泛的全基因组研究为白血病基因组学社区提供了高质量的开源数据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/ceb9539065d4/LSA-2023-02481_FigS12.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/0513527d305e/LSA-2023-02481_GA.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/dc97c1d30aa5/LSA-2023-02481_Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/72241c242e9b/LSA-2023-02481_FigS1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/f0e675df0e24/LSA-2023-02481_FigS2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/5f12d1d08b30/LSA-2023-02481_FigS3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/a32e4dde7ea2/LSA-2023-02481_Fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/ace2b8e937ce/LSA-2023-02481_FigS4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/a150856b2c28/LSA-2023-02481_Fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/337cff1a7e20/LSA-2023-02481_FigS5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/efee02b8e2fe/LSA-2023-02481_FigS6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/a37db8fc2d94/LSA-2023-02481_FigS7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/52c07e50d6bf/LSA-2023-02481_FigS8.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/a96dc3a946ef/LSA-2023-02481_FigS9.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/f842a7e1f599/LSA-2023-02481_FigS10.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/dee8e34bc9d1/LSA-2023-02481_Fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/635c620c3f16/LSA-2023-02481_Fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/2a2dcd239243/LSA-2023-02481_FigS11.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/ceb9539065d4/LSA-2023-02481_FigS12.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/0513527d305e/LSA-2023-02481_GA.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/dc97c1d30aa5/LSA-2023-02481_Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/72241c242e9b/LSA-2023-02481_FigS1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/f0e675df0e24/LSA-2023-02481_FigS2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/5f12d1d08b30/LSA-2023-02481_FigS3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/a32e4dde7ea2/LSA-2023-02481_Fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/ace2b8e937ce/LSA-2023-02481_FigS4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/a150856b2c28/LSA-2023-02481_Fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/337cff1a7e20/LSA-2023-02481_FigS5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/efee02b8e2fe/LSA-2023-02481_FigS6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/a37db8fc2d94/LSA-2023-02481_FigS7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/52c07e50d6bf/LSA-2023-02481_FigS8.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/a96dc3a946ef/LSA-2023-02481_FigS9.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/f842a7e1f599/LSA-2023-02481_FigS10.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/dee8e34bc9d1/LSA-2023-02481_Fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/635c620c3f16/LSA-2023-02481_Fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/2a2dcd239243/LSA-2023-02481_FigS11.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed81/11111970/ceb9539065d4/LSA-2023-02481_FigS12.jpg

相似文献

1
A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing.采用短读长读测序对白血病细胞系 REH 进行多组学特征分析。
Life Sci Alliance. 2024 May 22;7(8). doi: 10.26508/lsa.202302481. Print 2024 Aug.
2
Genetic abnormalities involved in t(12;21) TEL-AML1 acute lymphoblastic leukemia: analysis by means of array-based comparative genomic hybridization.涉及t(12;21) TEL-AML1急性淋巴细胞白血病的基因异常：基于芯片的比较基因组杂交分析
Cancer Sci. 2007 May;98(5):698-706. doi: 10.1111/j.1349-7006.2007.00443.x. Epub 2007 Mar 21.
3
Determination of ETV6-RUNX1 genomic breakpoint by next-generation sequencing.通过下一代测序确定ETV6-RUNX1基因组断点
Cancer Med. 2016 Feb;5(2):337-51. doi: 10.1002/cam4.579. Epub 2015 Dec 29.
4
Toward Cytogenomics: Technical Assessment of Long-Read Nanopore Whole-Genome Sequencing for Detecting Large Chromosomal Alterations in Mantle Cell Lymphoma.迈向细胞基因组学：长读长纳米孔全基因组测序技术在套细胞淋巴瘤中检测大的染色体改变的技术评估。
J Mol Diagn. 2023 Nov;25(11):796-805. doi: 10.1016/j.jmoldx.2023.08.004. Epub 2023 Sep 7.
5
Unique long non-coding RNA expression signature in ETV6/RUNX1-driven B-cell precursor acute lymphoblastic leukemia.ETV6/RUNX1驱动的B细胞前体急性淋巴细胞白血病中独特的长链非编码RNA表达特征
Oncotarget. 2016 Nov 8;7(45):73769-73780. doi: 10.18632/oncotarget.12063.
6
High sensitivity and clonal stability of the genomic fusion as single marker for response monitoring in ETV6-RUNX1-positive acute lymphoblastic leukemia.作为 ETV6-RUNX1 阳性急性淋巴细胞白血病反应监测的单一标志物，基因组融合具有高灵敏度和克隆稳定性。
Pediatr Blood Cancer. 2019 Aug;66(8):e27780. doi: 10.1002/pbc.27780. Epub 2019 Apr 29.
7
Rapid detection of chromosomal translocation and precise breakpoint characterization in acute myeloid leukemia by nanopore long-read sequencing.通过纳米孔长读长测序快速检测急性髓系白血病中的染色体易位并精确表征断点
Cancer Genet. 2019 Nov;239:22-25. doi: 10.1016/j.cancergen.2019.08.005. Epub 2019 Aug 23.
8
Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH.REH 细胞系的基因组、转录组和表观基因组测序数据。
BMC Res Notes. 2023 Oct 10;16(1):265. doi: 10.1186/s13104-023-06537-2.
9
Potential molecular mechanisms of ETV6-RUNX1-positive B progenitor cell cluster in acute lymphoblastic leukemia revealed by single-cell RNA sequencing.单细胞 RNA 测序揭示 ETV6-RUNX1 阳性 B 祖细胞簇在急性淋巴细胞白血病中的潜在分子机制。
PeerJ. 2024 Nov 1;12:e18445. doi: 10.7717/peerj.18445. eCollection 2024.
10
Two novel fusion genes, AIF1L-ETV6 and ABL1-AIF1L, result together with ETV6-ABL1 from a single chromosomal rearrangement in acute lymphoblastic leukemia with prenatal origin.两种新的融合基因，AIF1L-ETV6 和 ABL1-AIF1L，与 ETV6-ABL1 一起源自具有产前起源的急性淋巴细胞白血病中的单一染色体重排。
Genes Chromosomes Cancer. 2018 Sep;57(9):471-477. doi: 10.1002/gcc.6. Epub 2018 Jul 30.

引用本文的文献

1
Genomic determinants of therapy response in ETV6::RUNX1 leukemia.ETV6::RUNX1白血病治疗反应的基因组决定因素。
Leukemia. 2025 Jul 9. doi: 10.1038/s41375-025-02683-7.
2
Molecular and pharmacological heterogeneity of ETV6::RUNX1 acute lymphoblastic leukemia.ETV6::RUNX1急性淋巴细胞白血病的分子与药理学异质性
Nat Commun. 2025 Jan 29;16(1):1153. doi: 10.1038/s41467-025-56229-7.

本文引用的文献

1
A comparison of methods for detecting DNA methylation from long-read sequencing of human genomes.人类基因组长读长测序中DNA甲基化检测方法的比较
Genome Biol. 2024 Mar 11;25(1):69. doi: 10.1186/s13059-024-03207-9.
2
Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH.REH 细胞系的基因组、转录组和表观基因组测序数据。
BMC Res Notes. 2023 Oct 10;16(1):265. doi: 10.1186/s13104-023-06537-2.
3
Long-read sequencing of diagnosis and post-therapy medulloblastoma reveals complex rearrangement patterns and epigenetic signatures.
髓母细胞瘤诊断及治疗后的长读长测序揭示了复杂的重排模式和表观遗传特征。
Cell Genom. 2023 Mar 22;3(4):100281. doi: 10.1016/j.xgen.2023.100281. eCollection 2023 Apr 12.
4
Variant calling and benchmarking in an era of complete human genome sequences.全基因组序列时代的变异调用和基准测试。
Nat Rev Genet. 2023 Jul;24(7):464-483. doi: 10.1038/s41576-023-00590-0. Epub 2023 Apr 14.
5
Translocation t(6;7) in AML-M4 cell line GDM-1 results in MNX1 activation through enhancer-hijacking.急性髓系白血病M4型细胞系GDM-1中的6号和7号染色体易位（t(6;7)）通过增强子劫持导致MNX1激活。
Leukemia. 2023 May;37(5):1147-1150. doi: 10.1038/s41375-023-01865-5. Epub 2023 Mar 22.
6
Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia.全基因组测序为儿童 B 细胞急性淋巴细胞白血病提供全面的基因检测。
Leukemia. 2023 Mar;37(3):518-528. doi: 10.1038/s41375-022-01806-8. Epub 2023 Jan 19.
7
Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care.将全基因组和转录组测序纳入临床癌症护理。
JCO Precis Oncol. 2022 Dec;6:e2200245. doi: 10.1200/PO.22.00245.
8
Regulome analysis in B-acute lymphoblastic leukemia exposes Core Binding Factor addiction as a therapeutic vulnerability.B 急性淋巴细胞白血病中的调控组分析揭示了核心结合因子成瘾是一种治疗上的脆弱性。
Nat Commun. 2022 Nov 21;13(1):7124. doi: 10.1038/s41467-022-34653-3.
9
Personalized genome assembly for accurate cancer somatic mutation discovery using tumor-normal paired reference samples.使用肿瘤-正常配对参考样本进行个性化基因组组装，以准确发现癌症体细胞突变。
Genome Biol. 2022 Nov 9;23(1):237. doi: 10.1186/s13059-022-02803-x.
10
Central nervous system involvement in childhood acute lymphoblastic leukemia is linked to upregulation of cholesterol biosynthetic pathways.儿童急性淋巴细胞白血病的中枢神经系统受累与胆固醇生物合成途径的上调有关。
Leukemia. 2022 Dec;36(12):2903-2907. doi: 10.1038/s41375-022-01722-x. Epub 2022 Oct 26.