IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v14y2023i1d10.1038_s41467-023-43881-0.html
   My bibliography  Save this article

Mosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa

Author

Listed:
  • Weiyin Zhou

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Anja Fischer

    (Ulm University and Ulm University Medical Center)

  • Martin D. Ogwang

    (EMBLEM Study, St. Mary’s Hospital, Lacor)

  • Wen Luo

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Patrick Kerchan

    (EMBLEM Study, Kuluva Hospital)

  • Steven J. Reynolds

    (Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health)

  • Constance N. Tenge

    (Moi University College of Health Sciences)

  • Pamela A. Were

    (EMBLEM Study, Academic Model Providing Access To Healthcare (AMPATH))

  • Robert T. Kuremu

    (Moi University College of Health Sciences)

  • Walter N. Wekesa

    (Moi University College of Health Sciences)

  • Nestory Masalu

    (EMBLEM Study, Bugando Medical Center)

  • Esther Kawira

    (EMBLEM Study, Shirati Health, Education, and Development Foundation)

  • Tobias Kinyera

    (EMBLEM Study, St. Mary’s Hospital, Lacor
    EMBLEM Study, African Field Epidemiology Network)

  • Isaac Otim

    (EMBLEM Study, St. Mary’s Hospital, Lacor
    EMBLEM Study, African Field Epidemiology Network)

  • Ismail D. Legason

    (EMBLEM Study, Kuluva Hospital
    EMBLEM Study, African Field Epidemiology Network)

  • Hadijah Nabalende

    (EMBLEM Study, St. Mary’s Hospital, Lacor
    EMBLEM Study, African Field Epidemiology Network)

  • Leona W. Ayers

    (The Ohio State University)

  • Kishor Bhatia

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services)

  • James J. Goedert

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services)

  • Mateus H. Gouveia

    (Center for Research on Genomics & Global Health, NHGRI, National Institutes of Health)

  • Nathan Cole

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Belynda Hicks

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Kristine Jones

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Michael Hummel

    (Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin
    Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Pathology)

  • Mathias Schlesner

    (University of Augsburg)

  • George Chagaluka

    (University of Malawi)

  • Nora Mutalima

    (University of York
    University of Oxford)

  • Eric Borgstein

    (University of Malawi)

  • George N. Liomba

    (University of Malawi)

  • Steve Kamiza

    (University of Malawi)

  • Nyengo Mkandawire

    (University of Malawi)

  • Collins Mitambo

    (Research Department, Ministry of Health)

  • Elizabeth M. Molyneux

    (University of Malawi)

  • Robert Newton

    (University of York)

  • Selina Glaser

    (Ulm University and Ulm University Medical Center)

  • Helene Kretzmer

    (Max Planck Institute for Molecular Genetics)

  • Michelle Manning

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Amy Hutchinson

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Ann W. Hsing

    (Stanford University)

  • Yao Tettey

    (Department of Pathology, University of Ghana Medical School, College of Health Sciences)

  • Andrew A. Adjei

    (Department of Pathology, University of Ghana Medical School, College of Health Sciences)

  • Stephen J. Chanock

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Reiner Siebert

    (Ulm University and Ulm University Medical Center)

  • Meredith Yeager

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Ludmila Prokunina-Olsson

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services)

  • Mitchell J. Machiela

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services)

  • Sam M. Mbulaiteye

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services)

Abstract

In high-income countries, mosaic chromosomal alterations in peripheral blood leukocytes are associated with an elevated risk of adverse health outcomes, including hematologic malignancies. We investigate mosaic chromosomal alterations in sub-Saharan Africa among 931 children with Burkitt lymphoma, an aggressive lymphoma commonly characterized by immunoglobulin-MYC chromosomal rearrangements, 3822 Burkitt lymphoma-free children, and 674 cancer-free men from Ghana. We find autosomal and X chromosome mosaic chromosomal alterations in 3.4% and 1.7% of Burkitt lymphoma-free children, and 8.4% and 3.7% of children with Burkitt lymphoma (P-values = 5.7×10−11 and 3.74×10−2, respectively). Autosomal mosaic chromosomal alterations are detected in 14.0% of Ghanaian men and increase with age. Mosaic chromosomal alterations in Burkitt lymphoma cases include gains on chromosomes 1q and 8, the latter spanning MYC, while mosaic chromosomal alterations in Burkitt lymphoma-free children include copy-neutral loss of heterozygosity on chromosomes 10, 14, and 16. Our results highlight mosaic chromosomal alterations in sub-Saharan African populations as a promising area of research.

Suggested Citation

  • Weiyin Zhou & Anja Fischer & Martin D. Ogwang & Wen Luo & Patrick Kerchan & Steven J. Reynolds & Constance N. Tenge & Pamela A. Were & Robert T. Kuremu & Walter N. Wekesa & Nestory Masalu & Esther Kaw, 2023. "Mosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
  • Handle: RePEc:nat:natcom:v:14:y:2023:i:1:d:10.1038_s41467-023-43881-0
    DOI: 10.1038/s41467-023-43881-0
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/s41467-023-43881-0
    File Function: Abstract
    Download Restriction: no

    File URL: https://libkey.io/10.1038/s41467-023-43881-0?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    References listed on IDEAS

    as
    1. Mitchell J. Machiela & Weiyin Zhou & Eric Karlins & Joshua N. Sampson & Neal D. Freedman & Qi Yang & Belynda Hicks & Casey Dagnall & Christopher Hautman & Kevin B. Jacobs & Christian C. Abnet & Melind, 2016. "Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome," Nature Communications, Nature, vol. 7(1), pages 1-9, September.
    2. Cristina López & Kortine Kleinheinz & Sietse M. Aukema & Marius Rohde & Stephan H. Bernhart & Daniel Hübschmann & Rabea Wagener & Umut H. Toprak & Francesco Raimondi & Markus Kreuz & Sebastian M. Wasz, 2019. "Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma," Nature Communications, Nature, vol. 10(1), pages 1-19, December.
    3. Taru Tukiainen & Alexandra-Chloé Villani & Angela Yen & Manuel A. Rivas & Jamie L. Marshall & Rahul Satija & Matt Aguirre & Laura Gauthier & Mark Fleharty & Andrew Kirby & Beryl B. Cummings & Stephane, 2017. "Landscape of X chromosome inactivation across human tissues," Nature, Nature, vol. 550(7675), pages 244-248, October.
    4. Roland Schmitz & Ryan M. Young & Michele Ceribelli & Sameer Jhavar & Wenming Xiao & Meili Zhang & George Wright & Arthur L. Shaffer & Daniel J. Hodson & Eric Buras & Xuelu Liu & John Powell & Yandan Y, 2012. "Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics," Nature, Nature, vol. 490(7418), pages 116-120, October.
    5. Po-Ru Loh & Giulio Genovese & Robert E. Handsaker & Hilary K. Finucane & Yakir A. Reshef & Pier Francesco Palamara & Brenda M. Birmann & Michael E. Talkowski & Samuel F. Bakhoum & Steven A. McCarroll , 2018. "Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations," Nature, Nature, vol. 559(7714), pages 350-355, July.
    6. Christy Hong & Michael Schubert & Andréa E. Tijhuis & Marta Requesens & Maurits Roorda & Anouk Brink & Lorena Andrade Ruiz & Petra L. Bakker & Tineke Sluis & Wietske Pieters & Mengting Chen & René War, 2022. "cGAS–STING drives the IL-6-dependent survival of chromosomally instable cancers," Nature, Nature, vol. 607(7918), pages 366-373, July.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Birgit Burkhardt & Ulf Michgehl & Jonas Rohde & Tabea Erdmann & Philipp Berning & Katrin Reutter & Marius Rohde & Arndt Borkhardt & Thomas Burmeister & Sandeep Dave & Alexandar Tzankov & Martin Dugas , 2022. "Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
    2. Yash Pershad & Taralynn Mack & Hannah Poisner & Yasminka A. Jakubek & Adrienne M. Stilp & Braxton D. Mitchell & Joshua P. Lewis & Eric Boerwinkle & Ruth J. F. Loos & Nathalie Chami & Zhe Wang & Kathle, 2024. "Determinants of mosaic chromosomal alteration fitness," Nature Communications, Nature, vol. 15(1), pages 1-10, December.
    3. Josefine Radke & Naveed Ishaque & Randi Koll & Zuguang Gu & Elisa Schumann & Lina Sieverling & Sebastian Uhrig & Daniel Hübschmann & Umut H. Toprak & Cristina López & Xavier Pastor Hostench & Simone B, 2022. "The genomic and transcriptional landscape of primary central nervous system lymphoma," Nature Communications, Nature, vol. 13(1), pages 1-20, December.
    4. Mei Zhao & Tianxiao Wang & Frederico O. Gleber-Netto & Zhen Chen & Daniel J. McGrail & Javier A. Gomez & Wutong Ju & Mayur A. Gadhikar & Wencai Ma & Li Shen & Qi Wang & Ximing Tang & Sen Pathak & Mari, 2024. "Mutant p53 gains oncogenic functions through a chromosomal instability-induced cytosolic DNA response," Nature Communications, Nature, vol. 15(1), pages 1-18, December.
    5. Peixiang Zhang & Joseph J. Munier & Carrie B. Wiese & Laurent Vergnes & Jenny C. Link & Fahim Abbasi & Emilio Ronquillo & Katherine Scheker & Antonio Muñoz & Yu-Lin Kuang & Elizabeth Theusch & Meng Lu, 2024. "X chromosome dosage drives statin-induced dysglycemia and mitochondrial dysfunction," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
    6. Antonio Lentini & Huaitao Cheng & J. C. Noble & Natali Papanicolaou & Christos Coucoravas & Nathanael Andrews & Qiaolin Deng & Martin Enge & Björn Reinius, 2022. "Elastic dosage compensation by X-chromosome upregulation," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
    7. Derek W. Brown & Weiyin Zhou & Youjin Wang & Kristine Jones & Wen Luo & Casey Dagnall & Kedest Teshome & Alyssa Klein & Tongwu Zhang & Shu-Hong Lin & Olivia W. Lee & Sairah Khan & Jacqueline B. Vo & A, 2022. "Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
    8. Anja Fischer & Thomas K. Albert & Natalia Moreno & Marta Interlandi & Jana Mormann & Selina Glaser & Paurnima Patil & Flavia W. Faria & Mathis Richter & Archana Verma & Sebastian T. Balbach & Rabea Wa, 2024. "Lack of SMARCB1 expression characterizes a subset of human and murine peripheral T-cell lymphomas," Nature Communications, Nature, vol. 15(1), pages 1-18, December.
    9. Caitriona M. McEvoy & Julia M. Murphy & Lin Zhang & Sergi Clotet-Freixas & Jessica A. Mathews & James An & Mehran Karimzadeh & Delaram Pouyabahar & Shenghui Su & Olga Zaslaver & Hannes Röst & Rangi Ar, 2022. "Single-cell profiling of healthy human kidney reveals features of sex-based transcriptional programs and tissue-specific immunity," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
    10. Kynon J. M. Benjamin & Ria Arora & Arthur S. Feltrin & Geo Pertea & Hunter H. Giles & Joshua M. Stolz & Laura D’Ignazio & Leonardo Collado-Torres & Joo Heon Shin & William S. Ulrich & Thomas M. Hyde &, 2024. "Sex affects transcriptional associations with schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus," Nature Communications, Nature, vol. 15(1), pages 1-16, December.
    11. Kelly L. Bolton & Youngil Koh & Michael B. Foote & Hogune Im & Justin Jee & Choong Hyun Sun & Anton Safonov & Ryan Ptashkin & Joon Ho Moon & Ji Yeon Lee & Jongtak Jung & Chang Kyung Kang & Kyoung-Ho S, 2021. "Clonal hematopoiesis is associated with risk of severe Covid-19," Nature Communications, Nature, vol. 12(1), pages 1-8, December.
    12. Yu-Hsuan Chen & Han-Hsiun Chen & Won-Jing Wang & Hsin-Yi Chen & Wei-Syun Huang & Chien-Han Kao & Sin-Rong Lee & Nai Yang Yeat & Ruei-Liang Yan & Shu-Jou Chan & Kuen-Phon Wu & Ruey-Hwa Chen, 2023. "TRABID inhibition activates cGAS/STING-mediated anti-tumor immunity through mitosis and autophagy dysregulation," Nature Communications, Nature, vol. 14(1), pages 1-20, December.
    13. Derek W. Brown & Liam D. Cato & Yajie Zhao & Satish K. Nandakumar & Erik L. Bao & Eugene J. Gardner & Aubrey K. Hubbard & Alexander DePaulis & Thomas Rehling & Lei Song & Kai Yu & Stephen J. Chanock &, 2023. "Shared and distinct genetic etiologies for different types of clonal hematopoiesis," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
    14. Yaling Dou & Rui Chen & Siyao Liu & Yi-Tsang Lee & Ji Jing & Xiaoxuan Liu & Yuepeng Ke & Rui Wang & Yubin Zhou & Yun Huang, 2023. "Optogenetic engineering of STING signaling allows remote immunomodulation to enhance cancer immunotherapy," Nature Communications, Nature, vol. 14(1), pages 1-17, December.
    15. Norman L. Lehman & Nathalie Spassky & Müge Sak & Amy Webb & Cory T. Zumbar & Aisulu Usubalieva & Khaled J. Alkhateeb & Joseph P. McElroy & Kirsteen H. Maclean & Paolo Fadda & Tom Liu & Vineela Gangala, 2022. "Astroblastomas exhibit radial glia stem cell lineages and differential expression of imprinted and X-inactivation escape genes," Nature Communications, Nature, vol. 13(1), pages 1-20, December.
    16. Elsa Leitão & Christopher Schröder & Ilaria Parenti & Carine Dalle & Agnès Rastetter & Theresa Kühnel & Alma Kuechler & Sabine Kaya & Bénédicte Gérard & Elise Schaefer & Caroline Nava & Nathalie Drouo, 2022. "Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
    17. Andrew K. Ressler & Daniel A. Snellings & Romuald Girard & Carol J. Gallione & Rhonda Lightle & Andrew S. Allen & Issam A. Awad & Douglas A. Marchuk, 2023. "Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations," Nature Communications, Nature, vol. 14(1), pages 1-9, December.
    18. Elizabeth J. Radford & Hong-Kee Tan & Malin H. L. Andersson & James D. Stephenson & Eugene J. Gardner & Holly Ironfield & Andrew J. Waters & Daniel Gitterman & Sarah Lindsay & Federico Abascal & Iñigo, 2023. "Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation," Nature Communications, Nature, vol. 14(1), pages 1-17, December.
    19. Nathália Mariana Santos Sansone & Letícia Rogini Pereira & Matheus Negri Boschiero & Felipe Eduardo Valencise & Andréa Melo Alexandre Fraga & Fernando Augusto Lima Marson, 2022. "Characterization of Clinical Features of Hospitalized Patients Due to the SARS-CoV-2 Infection in the Absence of Comorbidities Regarding the Sex: An Epidemiological Study of the First Year of the Pand," IJERPH, MDPI, vol. 19(15), pages 1-20, July.
    20. Michael B. Heskett & Athanasios E. Vouzas & Leslie G. Smith & Phillip A. Yates & Christopher Boniface & Eric E. Bouhassira & Paul T. Spellman & David M. Gilbert & Mathew J. Thayer, 2022. "Epigenetic control of chromosome-associated lncRNA genes essential for replication and stability," Nature Communications, Nature, vol. 13(1), pages 1-19, December.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:14:y:2023:i:1:d:10.1038_s41467-023-43881-0. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.