Large Intronic Deletion of the Fragile Site Gene
PRKN
common chromosomal fragile sites
genome editing
genomic instability
large genes
parkin
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2021
2021
Historique:
received:
14
04
2021
accepted:
28
06
2021
entrez:
6
8
2021
pubmed:
7
8
2021
medline:
7
8
2021
Statut:
epublish
Résumé
Common chromosomal fragile sites (CFSs) are genomic regions prone to form breaks and gaps on metaphase chromosomes during conditions of replication stress. Moreover, CFSs are hotspots for deletions and amplifications in cancer genomes. Fragility at CFSs is caused by transcription of extremely large genes, which contributes to replication problems. These extremely large genes do not encode large proteins, but the extreme sizes of the genes originate from vast introns. Intriguingly, the intron sizes of extremely large genes are conserved between mammals and birds. Here, we have used reverse genetics to address the function and significance of the largest intron in the extremely large gene
Identifiants
pubmed: 34354738
doi: 10.3389/fgene.2021.695172
pmc: PMC8329550
doi:
Types de publication
Journal Article
Langues
eng
Pagination
695172Informations de copyright
Copyright © 2021 Munk, Voutsinos and Oestergaard.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The reviewer VB declared a shared affiliation with one of the authors SM to the handling editor at the time of review.
Références
Mol Cell. 2011 Dec 23;44(6):966-77
pubmed: 22195969
Genes (Basel). 2018 Nov 27;9(12):
pubmed: 30486458
Nucleic Acids Res. 2018 Feb 16;46(3):1280-1294
pubmed: 29253234
Proc Natl Acad Sci U S A. 2005 Dec 13;102(50):18069-74
pubmed: 16330769
Mol Cell Oncol. 2017 May 19;4(6):e1329692
pubmed: 29209642
Nature. 2010 Feb 18;463(7283):893-8
pubmed: 20164919
Mol Cell. 2015 Dec 3;60(5):797-807
pubmed: 26656162
Dev Cell. 2013 Mar 25;24(6):635-48
pubmed: 23499358
Cell Rep. 2013 Aug 15;4(3):420-8
pubmed: 23911288
Cell. 2017 Aug 10;170(4):774-786.e19
pubmed: 28802045
Clin Chem. 2009 Apr;55(4):611-22
pubmed: 19246619
Nature. 2020 Feb;578(7793):112-121
pubmed: 32025012
Genome Res. 2015 Feb;25(2):189-200
pubmed: 25373142
Chromosoma. 2017 Mar;126(2):213-222
pubmed: 27796495
Nat Rev Cancer. 2017 Jul 25;17(8):489-501
pubmed: 28740117
Nature. 2010 Feb 18;463(7283):899-905
pubmed: 20164920
EMBO J. 2014 Nov 3;33(21):2507-20
pubmed: 25190518
Genes Chromosomes Cancer. 2019 May;58(5):270-283
pubmed: 30536896
Biochim Biophys Acta. 2012 Dec;1823(12):2297-310
pubmed: 22917578
Cold Spring Harb Perspect Med. 2012 Jan;2(1):a008888
pubmed: 22315721
Proc Natl Acad Sci U S A. 2016 Feb 23;113(8):2258-63
pubmed: 26873106
Cold Spring Harb Perspect Med. 2012 Nov 01;2(11):
pubmed: 23024178
Cell. 1990 Dec 21;63(6):1219-27
pubmed: 1979757
Methods. 2001 Dec;25(4):402-8
pubmed: 11846609
Proc Natl Acad Sci U S A. 2011 Sep 27;108(39):16259-64
pubmed: 21930938
Subcell Biochem. 2006;40:379-82
pubmed: 17623924
Trends Genet. 2012 Jan;28(1):22-32
pubmed: 22094264
Nucleic Acids Res. 2018 Apr 6;46(6):2932-2944
pubmed: 29394375
J Mol Biol. 2003 Feb 7;326(1):11-9
pubmed: 12547187
Nature. 2018 Mar 1;555(7694):112-116
pubmed: 29466339
Cell. 2016 Feb 11;164(4):644-55
pubmed: 26871630