• Login
    View Item 
    •   Home
    • Research
    • Preprints
    • View Item
    •   Home
    • Research
    • Preprints
    • View Item
    JavaScript is disabled for your browser. Some features of this site may not work without it.

    Browse

    All of KAUSTCommunitiesIssue DateSubmit DateThis CollectionIssue DateSubmit Date

    My Account

    Login

    Quick Links

    Open Access PolicyORCID LibguideTheses and Dissertations LibguideSubmit an Item

    Statistics

    Display statistics

    Single-cell Individual Complete mtDNA Sequencing Uncovers Hidden Mitochondrial Heterogeneity in Human and Mouse Oocytes

    • CSV
    • RefMan
    • EndNote
    • BibTex
    • RefWorks
    Thumbnail
    Name:
    single cell individual.pdf
    Size:
    32.64Mb
    Format:
    PDF
    Description:
    pre-print
    Download
    Type
    Preprint
    Authors
    Bi, Chongwei cc
    Wang, Lin
    Fan, Yong
    Ramos Mandujano, Gerardo
    Yuan, Baolei cc
    Zhou, Xuan cc
    Wang, Jincheng
    Shao, Yanjiao
    Zhang, Pu-Yao
    Huang, Yanyi
    Yu, Yang
    Izpisua Belmonte, Juan Carlos
    Li, Mo cc
    KAUST Department
    Bioscience Program
    Biological and Environmental Sciences and Engineering (BESE) Division
    Biological and Environmental Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Kingdom of Saudi Arabia.
    KAUST Grant Number
    BAS/1/1080-01
    URF/1/3412-01-01)
    Date
    2020-12-29
    Permanent link to this record
    http://hdl.handle.net/10754/666791
    
    Metadata
    Show full item record
    Abstract
    The ontogeny and dynamics of mtDNA heteroplasmy remain unclear due to limitations of current mtDNA sequencing methods. We developed individual Mitochondrial Genome sequencing (iMiGseq) of full-length mtDNA for ultra-sensitive variant detection, complete haplotyping, and unbiased evaluation of heteroplasmy levels, all at the individual mtDNA molecule level. iMiGseq uncovers unappreciated levels of heteroplasmic variants in single healthy human oocytes well below the current 1% detection limit, of which numerous variants are detrimental and could contribute to late-onset mitochondrial disease and cancer. Extreme mtDNA heterogeneity among oocytes of the same mouse female, and a strong selection against deleterious mutations in human oocytes are observed. iMiGseq could comprehensively characterize and haplotype single-nucleotide and structural variants of mtDNA and their genetic linkage in NARP/Leigh syndrome patient-derived cells. Therefore, iMiGseq could not only elucidate the mitochondrial etiology of diseases, but also help diagnose and prevent mitochondrial diseases with unprecedented precision.
    Citation
    Bi, C., Wang, L., Fan, Y., Ramos-Mandujano, G., Yuan, B., Zhou, X., … Li, M. (2020). Single-cell Individual Complete mtDNA Sequencing Uncovers Hidden Mitochondrial Heterogeneity in Human and Mouse Oocytes. doi:10.1101/2020.12.28.424537
    Sponsors
    We thank members of the Li laboratory, Khaled Alsayegh, Samhan Alsolami for helpful discussions; Jinna Xu and Marie Krenz Y. Sicat for administrative support. We thank Chenyang Geng at the BIOPIC core facility at Peking university for technical assistance in PacBio sequencing. We thank Professor Jasmeen Merzaban’s lab and KAUST Animal Research Core Laboratory for sharing mouse strains. The research of the Li laboratory was supported byKAUST Office of Sponsored Research (OSR), under award number BAS/1/1080-01. The work was supported by a KAUST Competitive Research Grant (award number URF/1/3412-01-01) given to ML, YH and JCIB; the National Key R&D Program of China (2016YFC1000601) and the National Natural Science Funds (81571400, 81771580 and 81971381), MMAAP foundation to YY; and the National Key Research and Development Program of China (2019YFA0110804, 2018YFC1003203), and the National Natural Science Foundation of China (81871162) to YF
    Publisher
    Cold Spring Harbor Laboratory
    DOI
    10.1101/2020.12.28.424537
    Additional Links
    http://biorxiv.org/lookup/doi/10.1101/2020.12.28.424537
    ae974a485f413a2113503eed53cd6c53
    10.1101/2020.12.28.424537
    Scopus Count
    Collections
    Biological and Environmental Science and Engineering (BESE) Division; Preprints; Bioscience Program

    entitlement

     
    DSpace software copyright © 2002-2023  DuraSpace
    Quick Guide | Contact Us | KAUST University Library
    Open Repository is a service hosted by 
    Atmire NV
     

    Export search results

    The export option will allow you to export the current search results of the entered query to a file. Different formats are available for download. To export the items, click on the button corresponding with the preferred download format.

    By default, clicking on the export buttons will result in a download of the allowed maximum amount of items. For anonymous users the allowed maximum amount is 50 search results.

    To select a subset of the search results, click "Selective Export" button and make a selection of the items you want to export. The amount of items that can be exported at once is similarly restricted as the full export.

    After making a selection, click one of the export format buttons. The amount of items that will be exported is indicated in the bubble next to export format.