ArticleHuman molecular genetics2009
Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 17 citations in OpenAlex.
- The splicing factor SNRPB promotes ovarian cancer progression through regulating aberrant exon skipping of POLA1 and BRCA2.Oncogene · 2023Article
- Tissue-specific impact of stem-loops and quadruplexes on cancer breakpoints formation.BMC cancer · 2019Article
- The role of fork stalling and DNA structures in causing chromosome fragility.Genes, chromosomes & cancer · 2019Review
- CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis.Human molecular genetics · 2015Article
- Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation.Cancer genetics · 2014Article
- Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.Molecular cytogenetics · 2014Article
- Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations.Nature communications · 2013Article
- Chromosomal translocations and palindromic AT-rich repeats.Current opinion in genetics & development · 2012Review
- DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation.Molecular cytogenetics · 2011Article
- The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.Clinical genetics · 2010Review
- Non-B DNA structure-induced genetic instability and evolution.Cellular and molecular life sciences : CMLS · 2010Review
- Multiple cellular mechanisms prevent chromosomal rearrangements involving repetitive DNA.Critical reviews in biochemistry and molecular biologyReview
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
Palindromic regions are unstable and susceptible to deletion in prokaryotes and eukaryotes possibly due to stalled or slow replication. In the human genome, they also appear to become partially or completely deleted, while two palindromic AT-rich repeats (PATRR) contribute to known recurrent constitutional translocations. To explore the mechanism that causes the development of palindrome instabilities in humans, we compared the incidence of de novo translocations and deletions at PATRRs in human cells. Using a highly sensitive PCR assay that can detect single molecules, de novo deletions were detected neither in human somatic cells nor in sperm. However, deletions were detected at low frequency in cultured cell lines. Inhibition of DNA replication by administration of siRNA against the DNA polymerase alpha 1 (POLA1) gene or introduction of POLA inhibitors increased the frequency. This is in contrast to PATRR-mediated translocations that were never detected in similar conditions but were observed frequently in human sperm samples. Further deletions were found to take place during both leading- and lagging-strand synthesis. Our data suggest that stalled or slow replication induces deletions within PATRRs, but that other mechanisms might contribute to PATRR-mediated recurrent translocations in humans.
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