Home > Publications database > Multi-omic and single-cell profiling of chromothriptic medulloblastoma reveals genomic and transcriptomic consequences of genome instability. > print

001     294669
005     20250220163816.0
024 7 _ |a 10.1038/s41467-024-54547-w
|2 doi
024 7 _ |a pmid:39580568
|2 pmid
024 7 _ |a altmetric:171012663
|2 altmetric
037 _ _ |a DKFZ-2024-02404
041 _ _ |a English
082 _ _ |a 500
100 1 _ |a Smirnov, Petr
|0 P:(DE-He78)16e9e0f392bb4b8756f75b2df29054e4
|b 0
|e First author
|u dkfz
245 _ _ |a Multi-omic and single-cell profiling of chromothriptic medulloblastoma reveals genomic and transcriptomic consequences of genome instability.
260 _ _ |a [London]
|c 2024
|b Nature Publishing Group UK
336 7 _ |a article
|2 DRIVER
336 7 _ |a Output Types/Journal article
|2 DataCite
336 7 _ |a Journal Article
|b journal
|m journal
|0 PUB:(DE-HGF)16
|s 1732535147_29143
|2 PUB:(DE-HGF)
336 7 _ |a ARTICLE
|2 BibTeX
336 7 _ |a JOURNAL_ARTICLE
|2 ORCID
336 7 _ |a Journal Article
|0 0
|2 EndNote
500 _ _ |a #EA:B420#EA:B260#LA:B420#LA:B260#
520 _ _ |a Chromothripsis is a frequent form of genome instability, whereby a presumably single catastrophic event generates extensive genomic rearrangements of one or multiple chromosome(s). However, little is known about the heterogeneity of chromothripsis across different clones from the same tumour, as well as changes in response to treatment. Here we analyse single-cell genomic and transcriptomic alterations linked with chromothripsis in human p53-deficient medulloblastoma and neural stem cells (n = 9). We reconstruct the order of somatic events, identify early alterations likely linked to chromothripsis and depict the contribution of chromothripsis to malignancy. We characterise subclonal variation of chromothripsis and its effects on extrachromosomal circular DNA, cancer drivers and putatively druggable targets. Furthermore, we highlight the causative role and the fitness consequences of specific rearrangements in neural progenitors.
536 _ _ |a 312 - Funktionelle und strukturelle Genomforschung (POF4-312)
|0 G:(DE-HGF)POF4-312
|c POF4-312
|f POF IV
|x 0
588 _ _ |a Dataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de
650 _ 7 |a Tumor Suppressor Protein p53
|2 NLM Chemicals
650 _ 2 |a Medulloblastoma: genetics
|2 MeSH
650 _ 2 |a Medulloblastoma: pathology
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Genomic Instability
|2 MeSH
650 _ 2 |a Single-Cell Analysis: methods
|2 MeSH
650 _ 2 |a Chromothripsis
|2 MeSH
650 _ 2 |a Transcriptome
|2 MeSH
650 _ 2 |a Cerebellar Neoplasms: genetics
|2 MeSH
650 _ 2 |a Cerebellar Neoplasms: pathology
|2 MeSH
650 _ 2 |a Genomics: methods
|2 MeSH
650 _ 2 |a Neural Stem Cells: metabolism
|2 MeSH
650 _ 2 |a Tumor Suppressor Protein p53: genetics
|2 MeSH
650 _ 2 |a Tumor Suppressor Protein p53: metabolism
|2 MeSH
650 _ 2 |a Gene Expression Profiling: methods
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Multiomics
|2 MeSH
700 1 _ |a Przybilla, Moritz Jakob
|0 P:(DE-He78)2c6d4f81ba6891f170d25801c181ace1
|b 1
|e First author
|u dkfz
700 1 _ |a Simovic-Lorenz, Milena
|0 P:(DE-He78)1fdaffee272e57a73f861a0ea36c4079
|b 2
|e First author
|u dkfz
700 1 _ |a Parra, Rodrigo Gonzalo
|0 P:(DE-He78)498a5d4f8f3df69147c176a184e707f6
|b 3
|e First author
700 1 _ |a Susak, Hana
|0 P:(DE-He78)13651c297cb24826d3cc138cef2b54a2
|b 4
|e First author
700 1 _ |a Aichmüller-Ratnaparkhe, Manasi
|0 P:(DE-He78)e33bb25d8c2a056ddfc1621563fc5c70
|b 5
700 1 _ |a Wong, John Kl
|0 P:(DE-HGF)0
|b 6
700 1 _ |a Körber, Verena
|0 P:(DE-He78)467f2d039931bfae1a497c4a6c54804c
|b 7
700 1 _ |a Mallm, Jan-Philipp
|0 P:(DE-He78)697cb039ca08f3b7e5a2a52dbf020b46
|b 8
|u dkfz
700 1 _ |a Philippos, George
|0 P:(DE-He78)78421a888a27374f1a010a61cde7f6a7
|b 9
|u dkfz
700 1 _ |a Sill, Martin
|0 P:(DE-He78)45440b44791309bd4b7dbb4f73333f9b
|b 10
|u dkfz
700 1 _ |a Kolb, Thorsten
|0 P:(DE-He78)ff4b82323a90d759d3c7eef0fd8ddfe3
|b 11
|u dkfz
700 1 _ |a Kumar, Rithu
|0 P:(DE-He78)c5cc0ee57f0d49302de5365f8cb9206e
|b 12
700 1 _ |a Casiraghi, Nicola
|0 P:(DE-He78)33cc72e976602ffb5dfcf91f69f97c70
|b 13
|u dkfz
700 1 _ |a Okonechnikov, Konstantin
|0 P:(DE-He78)34b3639de467b2c700920d7cbc3d2110
|b 14
|u dkfz
700 1 _ |a Ghasemi, David R
|0 0000-0002-3844-9933
|b 15
700 1 _ |a Maaß, Kendra Korinna
|0 P:(DE-He78)5100059e746b377e2e0a37c0e24f6bf7
|b 16
|u dkfz
700 1 _ |a Pajtler, Kristian
|0 P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d
|b 17
|u dkfz
700 1 _ |a Jauch, Anna
|b 18
700 1 _ |a Korshunov, Andrey
|0 P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93
|b 19
|u dkfz
700 1 _ |a Höfer, Thomas
|0 P:(DE-He78)9dbe272aaadbdc810ab0bb291eae428e
|b 20
|u dkfz
700 1 _ |a Zapatka, Marc
|0 P:(DE-He78)1beba8f953e7ae7e96e8d3e9a48f10f7
|b 21
|u dkfz
700 1 _ |a Pfister, Stefan
|0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9
|b 22
|u dkfz
700 1 _ |a Huber, Wolfgang
|0 0000-0002-0474-2218
|b 23
700 1 _ |a Stegle, Oliver
|0 P:(DE-He78)9aabcfee1a1fc9202398a45a63f0b1e3
|b 24
|e Last author
|u dkfz
700 1 _ |a Ernst, Aurélie
|0 P:(DE-He78)509fb81813c1911954da583129e8ea57
|b 25
|e Last author
|u dkfz
773 _ _ |a 10.1038/s41467-024-54547-w
|g Vol. 15, no. 1, p. 10183
|0 PERI:(DE-600)2553671-0
|n 1
|p 10183
|t Nature Communications
|v 15
|y 2024
|x 2041-1723
909 C O |o oai:inrepo02.dkfz.de:294669
|p VDB
|p OpenAPC
|p openCost
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 0
|6 P:(DE-He78)16e9e0f392bb4b8756f75b2df29054e4
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 1
|6 P:(DE-He78)2c6d4f81ba6891f170d25801c181ace1
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 2
|6 P:(DE-He78)1fdaffee272e57a73f861a0ea36c4079
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 3
|6 P:(DE-He78)498a5d4f8f3df69147c176a184e707f6
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 4
|6 P:(DE-He78)13651c297cb24826d3cc138cef2b54a2
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 5
|6 P:(DE-He78)e33bb25d8c2a056ddfc1621563fc5c70
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 6
|6 P:(DE-HGF)0
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 7
|6 P:(DE-He78)467f2d039931bfae1a497c4a6c54804c
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 8
|6 P:(DE-He78)697cb039ca08f3b7e5a2a52dbf020b46
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 9
|6 P:(DE-He78)78421a888a27374f1a010a61cde7f6a7
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 10
|6 P:(DE-He78)45440b44791309bd4b7dbb4f73333f9b
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 11
|6 P:(DE-He78)ff4b82323a90d759d3c7eef0fd8ddfe3
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 12
|6 P:(DE-He78)c5cc0ee57f0d49302de5365f8cb9206e
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 13
|6 P:(DE-He78)33cc72e976602ffb5dfcf91f69f97c70
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 14
|6 P:(DE-He78)34b3639de467b2c700920d7cbc3d2110
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 15
|6 0000-0002-3844-9933
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 16
|6 P:(DE-He78)5100059e746b377e2e0a37c0e24f6bf7
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 17
|6 P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 19
|6 P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 20
|6 P:(DE-He78)9dbe272aaadbdc810ab0bb291eae428e
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 21
|6 P:(DE-He78)1beba8f953e7ae7e96e8d3e9a48f10f7
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 22
|6 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 24
|6 P:(DE-He78)9aabcfee1a1fc9202398a45a63f0b1e3
910 1 _ |a Deutsches Krebsforschungszentrum
|0 I:(DE-588b)2036810-0
|k DKFZ
|b 25
|6 P:(DE-He78)509fb81813c1911954da583129e8ea57
913 1 _ |a DE-HGF
|b Gesundheit
|l Krebsforschung
|1 G:(DE-HGF)POF4-310
|0 G:(DE-HGF)POF4-312
|3 G:(DE-HGF)POF4
|2 G:(DE-HGF)POF4-300
|4 G:(DE-HGF)POF
|v Funktionelle und strukturelle Genomforschung
|x 0
914 1 _ |y 2024
915 _ _ |a JCR
|0 StatID:(DE-HGF)0100
|2 StatID
|b NAT COMMUN : 2022
|d 2023-08-29
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0200
|2 StatID
|b SCOPUS
|d 2023-08-29
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0300
|2 StatID
|b Medline
|d 2023-08-29
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0320
|2 StatID
|b PubMed Central
|d 2023-08-29
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0501
|2 StatID
|b DOAJ Seal
|d 2023-05-02T09:09:09Z
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0500
|2 StatID
|b DOAJ
|d 2023-05-02T09:09:09Z
915 _ _ |a Peer Review
|0 StatID:(DE-HGF)0030
|2 StatID
|b DOAJ : Peer review
|d 2023-05-02T09:09:09Z
915 _ _ |a Creative Commons Attribution CC BY (No Version)
|0 LIC:(DE-HGF)CCBYNV
|2 V:(DE-HGF)
|b DOAJ
|d 2023-05-02T09:09:09Z
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0199
|2 StatID
|b Clarivate Analytics Master Journal List
|d 2023-08-29
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1050
|2 StatID
|b BIOSIS Previews
|d 2023-08-29
915 _ _ |a WoS
|0 StatID:(DE-HGF)0113
|2 StatID
|b Science Citation Index Expanded
|d 2023-08-29
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0150
|2 StatID
|b Web of Science Core Collection
|d 2023-08-29
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1030
|2 StatID
|b Current Contents - Life Sciences
|d 2023-08-29
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1190
|2 StatID
|b Biological Abstracts
|d 2023-08-29
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1060
|2 StatID
|b Current Contents - Agriculture, Biology and Environmental Sciences
|d 2023-08-29
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1040
|2 StatID
|b Zoological Record
|d 2023-08-29
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0160
|2 StatID
|b Essential Science Indicators
|d 2023-08-29
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1150
|2 StatID
|b Current Contents - Physical, Chemical and Earth Sciences
|d 2023-08-29
915 _ _ |a IF >= 15
|0 StatID:(DE-HGF)9915
|2 StatID
|b NAT COMMUN : 2022
|d 2023-08-29
915 _ _ |a Article Processing Charges
|0 StatID:(DE-HGF)0561
|2 StatID
|d 2023-08-29
915 _ _ |a Fees
|0 StatID:(DE-HGF)0700
|2 StatID
|d 2023-08-29
915 p c |a APC keys set
|2 APC
|0 PC:(DE-HGF)0000
915 p c |a Local Funding
|2 APC
|0 PC:(DE-HGF)0001
915 p c |a DFG OA Publikationskosten
|2 APC
|0 PC:(DE-HGF)0002
915 p c |a DOAJ Journal
|2 APC
|0 PC:(DE-HGF)0003
920 2 _ |0 I:(DE-He78)B420-20160331
|k B420
|l Genominstabilität in Tumoren
|x 0
920 2 _ |0 I:(DE-He78)B260-20160331
|k B260
|l B260 Bioinformatik der Genomik und Systemgenetik
|x 1
920 1 _ |0 I:(DE-He78)B420-20160331
|k B420
|l Genominstabilität in Tumoren
|x 0
920 1 _ |0 I:(DE-He78)HD01-20160331
|k HD01
|l DKTK HD zentral
|x 1
920 1 _ |0 I:(DE-He78)B260-20160331
|k B260
|l B260 Bioinformatik der Genomik und Systemgenetik
|x 2
920 1 _ |0 I:(DE-He78)B060-20160331
|k B060
|l B060 Molekulare Genetik
|x 3
920 1 _ |0 I:(DE-He78)B086-20160331
|k B086
|l B086 Modellierung Biol. Systeme
|x 4
920 1 _ |0 I:(DE-He78)W192-20160331
|k W192
|l scOpen Lab
|x 5
920 1 _ |0 I:(DE-He78)B062-20160331
|k B062
|l B062 Pädiatrische Neuroonkologie
|x 6
920 1 _ |0 I:(DE-He78)B300-20160331
|k B300
|l KKE Neuropathologie
|x 7
920 0 _ |0 I:(DE-He78)B420-20160331
|k B420
|l Genominstabilität in Tumoren
|x 0
920 0 _ |0 I:(DE-He78)B260-20160331
|k B260
|l B260 Bioinformatik der Genomik und Systemgenetik
|x 1
980 _ _ |a journal
980 _ _ |a VDB
980 _ _ |a I:(DE-He78)B420-20160331
980 _ _ |a I:(DE-He78)HD01-20160331
980 _ _ |a I:(DE-He78)B260-20160331
980 _ _ |a I:(DE-He78)B060-20160331
980 _ _ |a I:(DE-He78)B086-20160331
980 _ _ |a I:(DE-He78)W192-20160331
980 _ _ |a I:(DE-He78)B062-20160331
980 _ _ |a I:(DE-He78)B300-20160331
980 _ _ |a UNRESTRICTED
980 _ _ |a APC

LibraryCollectionCLSMajorCLSMinorLanguageAuthor
Marc 21