دورية أكاديمية
أعرض في EDS

Pooled image-base screening of mitochondria with microraft isolation distinguishes pathogenic mitofusin 2 mutations.

التفاصيل البيبلوغرافية
العنوان: Pooled image-base screening of mitochondria with microraft isolation distinguishes pathogenic mitofusin 2 mutations.
المؤلفون: Yenkin AL; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA.; Functional Imaging for Variant Elucidation at the McDonnell Genome Institute, St Louis, MO, USA., Bramley JC; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA.; Functional Imaging for Variant Elucidation at the McDonnell Genome Institute, St Louis, MO, USA., Kremitzki CL; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA.; Functional Imaging for Variant Elucidation at the McDonnell Genome Institute, St Louis, MO, USA., Waligorski JE; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA.; Functional Imaging for Variant Elucidation at the McDonnell Genome Institute, St Louis, MO, USA., Liebeskind MJ; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA.; Functional Imaging for Variant Elucidation at the McDonnell Genome Institute, St Louis, MO, USA., Xu XE; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA.; Functional Imaging for Variant Elucidation at the McDonnell Genome Institute, St Louis, MO, USA., Chandrasekaran VD; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA.; Functional Imaging for Variant Elucidation at the McDonnell Genome Institute, St Louis, MO, USA., Vakaki MA; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA.; Functional Imaging for Variant Elucidation at the McDonnell Genome Institute, St Louis, MO, USA., Bachman GW; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA.; Functional Imaging for Variant Elucidation at the McDonnell Genome Institute, St Louis, MO, USA., Mitra RD; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA.; Functional Imaging for Variant Elucidation at the McDonnell Genome Institute, St Louis, MO, USA., Milbrandt JD; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA.; Functional Imaging for Variant Elucidation at the McDonnell Genome Institute, St Louis, MO, USA., Buchser WJ; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA. wbuchser@wustl.edu.; Functional Imaging for Variant Elucidation at the McDonnell Genome Institute, St Louis, MO, USA. wbuchser@wustl.edu.
المصدر: Communications biology [Commun Biol] 2022 Oct 25; Vol. 5 (1), pp. 1128. Date of Electronic Publication: 2022 Oct 25.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN: 2399-3642 (Electronic) Linking ISSN: 23993642 NLM ISO Abbreviation: Commun Biol Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London, United Kingdom : Nature Publishing Group UK, [2018]-
مواضيع طبية MeSH: Gene Editing* , Genomics*/methods, Humans ; Mutation ; Phenotype ; Mitochondria/genetics
مستخلص: Most human genetic variation is classified as variants of uncertain significance. While advances in genome editing have allowed innovation in pooled screening platforms, many screens deal with relatively simple readouts (viability, fluorescence) and cannot identify the complex cellular phenotypes that underlie most human diseases. In this paper, we present a generalizable functional genomics platform that combines high-content imaging, machine learning, and microraft isolation in a method termed "Raft-Seq". We highlight the efficacy of our platform by showing its ability to distinguish pathogenic point mutations of the mitochondrial regulator Mitofusin 2, even when the cellular phenotype is subtle. We also show that our platform achieves its efficacy using multiple cellular features, which can be configured on-the-fly. Raft-Seq enables a way to perform pooled screening on sets of mutations in biologically relevant cells, with the ability to physically capture any cell with a perturbed phenotype and expand it clonally, directly from the primary screen.
(© 2022. The Author(s).)
References: Nat Methods. 2010 Sep;7(9):741-6. (PMID: 20711194)
Nat Biotechnol. 2012 Aug;30(8):777-82. (PMID: 22820318)
Science. 2021 Feb 26;371(6532):. (PMID: 33384301)
Hum Genet. 2018 Sep;137(9):665-678. (PMID: 30073413)
Cancer Discov. 2016 Aug;6(8):900-13. (PMID: 27260157)
Biosens Bioelectron. 2017 May 15;91:175-182. (PMID: 28006686)
J Cell Biol. 2021 Feb 1;220(2):. (PMID: 33465779)
Sci Adv. 2020 Oct 23;6(43):. (PMID: 33097540)
Nat Commun. 2022 Jul 7;13(1):3775. (PMID: 35798717)
Biotechniques. 2011 Feb;50(2):98-115. (PMID: 21486251)
Nat Med. 2018 Jul;24(7):939-946. (PMID: 29892062)
J Biol Chem. 2011 Aug 12;286(32):28011-8. (PMID: 21685387)
Mol Syst Biol. 2018 Jan 23;14(1):e8064. (PMID: 29363560)
Trends Genet. 2017 Sep;33(9):604-615. (PMID: 28732598)
Curr Opin Neurol. 2017 Oct;30(5):471-480. (PMID: 28678038)
Cell. 2016 Dec 15;167(7):1853-1866.e17. (PMID: 27984732)
Nat Protoc. 2022 Feb;17(2):476-512. (PMID: 35022620)
Cell. 2022 Nov 23;185(24):4634-4653.e22. (PMID: 36347254)
Nat Biotechnol. 2017 Jun;35(6):561-568. (PMID: 28369033)
F1000Res. 2018 Dec 21;7:. (PMID: 30613379)
J Neurol Sci. 2015 Sep 15;356(1-2):7-18. (PMID: 26143526)
Genome Res. 2020 Sep;30(9):1317-1331. (PMID: 32887689)
PLoS One. 2018 Aug 23;13(8):e0197946. (PMID: 30138351)
Science. 2012 Aug 31;337(6098):1062-5. (PMID: 22936770)
Nature. 2018 Nov;563(7733):646-651. (PMID: 30405244)
J Neurosci. 2007 Jan 10;27(2):422-30. (PMID: 17215403)
Nat Methods. 2013 Sep;10(9):857-60. (PMID: 23852452)
Cold Spring Harb Symp Quant Biol. 2017;82:57-70. (PMID: 29183987)
Cell. 2019 Oct 17;179(3):787-799.e17. (PMID: 31626775)
Trends Genet. 2021 Dec;37(12):1081-1094. (PMID: 34315631)
Curr Opin Biotechnol. 2016 Jun;39:134-142. (PMID: 27089218)
J Cell Biol. 2021 Feb 1;220(2):. (PMID: 33464298)
Nat Methods. 2019 May;16(5):409-412. (PMID: 31011186)
Nucleic Acids Res. 2016 Sep 30;44(17):8292-301. (PMID: 27530426)
Nat Methods. 2020 Jun;17(6):636-642. (PMID: 32393832)
Cell Syst. 2016 Oct 26;3(4):385-394.e3. (PMID: 27693023)
Nat Biotechnol. 2020 Jun;38(6):708-714. (PMID: 32518404)
Nat Methods. 2021 Jul;18(7):799-805. (PMID: 34226721)
Genome Med. 2019 Aug 22;11(1):52. (PMID: 31439014)
Crit Rev Biochem Mol Biol. 2021 Feb;56(1):17-30. (PMID: 33179522)
Cell. 2014 Oct 23;159(3):647-61. (PMID: 25307932)
J Vis Exp. 2019 Sep 4;(151):. (PMID: 31545321)
Mol Syst Biol. 2020 Jun;16(6):e9442. (PMID: 32500953)
Brain. 2021 Sep 4;144(8):2471-2485. (PMID: 34128983)
Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067. (PMID: 29165669)
Proc Natl Acad Sci U S A. 2019 May 28;116(22):10842-10851. (PMID: 31085639)
Genome Biol. 2019 Nov 4;20(1):223. (PMID: 31679514)
Mol Syst Biol. 2010 Jul;6:391. (PMID: 20664637)
تواريخ الأحداث: Date Created: 20221026 Date Completed: 20221027 Latest Revision: 20240906
رمز التحديث: 20240906
مُعرف محوري في PubMed: PMC9596453
DOI: 10.1038/s42003-022-04089-y
PMID: 36284160
قاعدة البيانات: MEDLINE
الوصف
تدمد:2399-3642
DOI:10.1038/s42003-022-04089-y