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- W2125204927 endingPage "220" @default.
- W2125204927 startingPage "210" @default.
- W2125204927 abstract "Inverse paralogous low-copy repeats (IP-LCRs) can cause genome instability by nonallelic homologous recombination (NAHR)-mediated balanced inversions. When disrupting a dosage-sensitive gene(s), balanced inversions can lead to abnormal phenotypes. We delineated the genome-wide distribution of IP-LCRs >1 kB in size with >95% sequence identity and mapped the genes, potentially intersected by an inversion, that overlap at least one of the IP-LCRs. Remarkably, our results show that 12.0% of the human genome is potentially susceptible to such inversions and 942 genes, 99 of which are on the X chromosome, are predicted to be disrupted secondary to such an inversion! In addition, IP-LCRs larger than 800 bp with at least 98% sequence identity (duplication/triplication facilitating IP-LCRs, DTIP-LCRs) were recently implicated in the formation of complex genomic rearrangements with a duplication-inverted triplication–duplication (DUP-TRP/INV-DUP) structure by a replication-based mechanism involving a template switch between such inverted repeats. We identified 1,551 DTIP-LCRs that could facilitate DUP-TRP/INV-DUP formation. Remarkably, 1,445 disease-associated genes are at risk of undergoing copy-number gain as they map to genomic intervals susceptible to the formation of DUP-TRP/INV-DUP complex rearrangements. We implicate inverted LCRs as a human genome architectural feature that could potentially be responsible for genomic instability associated with many human disease traits." @default.
- W2125204927 created "2016-06-24" @default.
- W2125204927 creator A5000612576 @default.
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- W2125204927 creator A5075195054 @default.
- W2125204927 creator A5079825013 @default.
- W2125204927 creator A5083240572 @default.
- W2125204927 date "2012-10-11" @default.
- W2125204927 modified "2023-10-07" @default.
- W2125204927 title "Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis" @default.
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