ArticleHuman molecular genetics2010
Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm.
Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome.Genome research · 2025Article
- Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations.Human molecular genetics · 2021Article
- Formation of a Family of Long Intergenic Noncoding RNA Genes with an Embedded Translocation Breakpoint Motif in Human Chromosomal Low Copy Repeats of 22q11.2-Some Surprises and Questions.Non-coding RNA · 2018Article
- Article
- Palindrome-Mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements.Frontiers in genetics · 2016Review
- Complexity of a small non-protein coding sequence in chromosomal region 22q11.2: presence of specialized DNA secondary structures and RNA exon/intron motifs.BMC genomics · 2015Article
- Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation.Cancer genetics · 2014Article
- The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.PLoS 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
- Searching for non-B DNA-forming motifs using nBMST (non-B DNA motif search tool).Current protocols in human genetics · 2012Article
- DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation.Molecular cytogenetics · 2011Article
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10 authors.
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Abstract
The constitutional t(11;22) is the most frequent recurrent non-Robertsonian translocation in humans, the breakpoints of which are located within palindromic AT-rich repeats on 11q23 and 22q11 (PATRR11 and PATRR22). Genetic variation of the PATRR11 was found to affect de novo t(11;22) translocation frequency in sperm derived from normal healthy males, suggesting the hypothesis that polymorphisms of the PATRR22 might also influence the translocation frequency. Although the complicated structure of the PATRR22 locus prevented determining the genotype of the PATRR22 in each individual, genotyping of flanking markers as well as identification of rare variants allowed us to demonstrate an association between the PATRR22 allele type and the translocation frequency. We found that size and symmetry of the PATRR22 affect the de novo translocation frequency, which is lower for the shorter or more asymmetric versions. These data lend support to our hypothesis that the PATRRs form secondary structures in the nucleus that induce genomic instability leading to the recurrent translocation.
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