Single-cell mtDNA heteroplasmy in colorectal cancer

被引：5

作者：

Almeida, Joao ^{[1
]}

Alves, Joao M. ^{[2
,3
]}

Valecha, Monica ^{[2
,3
]}

Prado-Lopez, Sonia ^{[2
,3
]}

Alvarino, Pilar ^{[2
,3
]}

Fonseca, Miguel M. ^{[1
]}

Posada, David ^{[2
,3
,7
]}

Perez-Figueroa, Andres ^{[1
,2
,3
]}

Cameselle-Teijeiro, Jose Manuel ^{[4
,5
]}

Chantada, Debora ^{[6
]}

机构：

[1] Univ Porto, Interdisciplinary Ctr Marine & Environm Res CIIMA, Porto, Portugal

[2] Univ Vigo, CINBIO, Vigo 36310, Spain

[3] SERGAS UVIGO, Galicia Sur Hlth Res Inst IIS Galicia Sur, Vigo, Spain

[4] Galician Healthcare Serv SERGAS, Dept Pathol, Clin Univ Hosp, Santiago De Compostela, Spain

[5] Univ Santiago de Compostela, Fac Med, Santiago De Compostela, Spain

[6] Hosp Alvaro Cunqueiro, Dept Pathol, Vigo, Spain

[7] Univ Vigo, Dept Biochem Genet & Immunol, Vigo 36310, Spain

来源：

GENOMICS | 2022年 / 114卷 / 02期

基金：

欧洲研究理事会;

关键词：

Single-cell mitochondrial genomics; mtDNA homoplasmy; Intracellular heteroplasmy; scDNA-seq; MITOCHONDRIAL-DNA MUTATIONS; COPY-NUMBER; HUMAN HEALTH; GENOME;

D O I：

10.1016/j.ygeno.2022.110315

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Human mitochondria can be genetically distinct within the same individual, a phenomenon known as heteroplasmy. In cancer, this phenomenon seems exacerbated, and most mitochondrial mutations seem to be heteroplasmic. How this genetic variation is arranged within and among normal and tumor cells is not well understood. To address this question, here we sequenced single-cell mitochondrial genomes from multiple normal and tumoral locations in four colorectal cancer patients. Our results suggest that single cells, both normal and tumoral, can carry various mitochondrial haplotypes. Remarkably, this intra-cell heteroplasmy can arise before tumor development and be maintained afterward in specific tumoral cell subpopulations. At least in the colorectal patients studied here, the somatic mutations in the single-cells do not seem to have a prominent role in tumorigenesis.

引用

页数：8

共 43 条

[21] Mutational patterns in the breast cancer mitochondrial genome, with clinical correlates [J].

McMahon, Sarah ;

LaFramboise, Thomas .

CARCINOGENESIS, 2014, 35 (05) :1046-1054

[22] GENETIC DISTANCE BETWEEN POPULATIONS [J].

NEI, M .

AMERICAN NATURALIST, 1972, 106 (949) :283-+

[23]

NEI M, 1986, MOL BIOL EVOL, V3, P418

[24] pegas: an R package for population genetics with an integrated-modular approach [J].

Paradis, Emmanuel .

BIOINFORMATICS, 2010, 26 (03) :419-420

[25] Mitochondrial Heteroplasmy Shifting as a Potential Biomarker of Cancer Progression [J].

Perez-Amado, Carlos Jhovani ;

Bazan-Cordoba, Amellalli ;

Hidalgo-Miranda, Alfredo ;

Jimenez-Morales, Silvia .

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (14)

[26] fastMitoCalc: an ultra-fast program to estimate mitochondrial DNA copy number from whole-genome sequences [J].

Qian, Yong ;

Butler, Thomas J. ;

Opsahl-Ong, Krista ;

Giroux, Nicholas S. ;

Sidore, Carlo ;

Nagaraja, Ramaiah ;

Cucca, Francesco ;

Ferrucci, Luigi ;

Abecasis, Goncalo R. ;

Schlessinger, David ;

Ding, Jun .

BIOINFORMATICS, 2017, 33 (09) :1399-1401

[27] Mitochondrial DNA copy number variation across human cancers [J].

Reznik, Ed ;

Miller, Martin L. ;

Senbabaoglu, Yasin ;

Riaz, Nadeem ;

Sarungbam, Judy ;

Tickoo, Satish K. ;

Al-Ahmadie, Hikmat A. ;

Lee, William ;

Seshan, Venkatraman E. ;

Hakimi, A. Ari ;

Sander, Chris .

ELIFE, 2016, 5

[28] Finding the lost treasures in exome sequencing data [J].

Samuels, David C. ;

Han, Leng ;

Li, Jiang ;

Sheng Quanghu ;

Clark, Travis A. ;

Shyr, Yu ;

Guo, Yan .

TRENDS IN GENETICS, 2013, 29 (10) :593-599

[29] Mitochondrial copy number and risk of breast cancer: A pilot study [J].

Shen, Jie ;

Platek, Mary ;

Mahasneh, Amjad ;

Ambrosone, Christine B. ;

Zhao, Hua .

MITOCHONDRION, 2010, 10 (01) :62-68

[30] Mitogenomic differences between the normal and tumor cells of colorectal cancer patients [J].

Skonieczna, Katarzyna ;

Malyarchuk, Boris ;

Jawien, Arkadiusz ;

Marszalek, Andrzej ;

Banaszkiewicz, Zbigniew ;

Jarmocik, Pawel ;

Grzybowski, Tomasz .

HUMAN MUTATION, 2018, 39 (05) :691-701

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