ArticleGenome research2007
A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies.
Article in Genome research, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 55 citations in OpenAlex.
- Downstream transcription promotes human recurrent CNV associated AT-rich sequence mediated genome rearrangements in yeast.iScience · 2024Article
- Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)-Case Report.Molecular cytogenetics · 2022Article
- Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations.Human molecular genetics · 2021Article
- Cruciform DNA in mouse growing oocytes: Its dynamics and its relationship with DNA transcription.PloS one · 2020Article
- The 22q11 low copy repeats are characterized by unprecedented size and structural variability.Genome research · 2019Article
- Constitutional t(8;22)(q24;q11.2) that mimics the variant Burkitt-type translocation in Philadelphia chromosome-positive chronic myeloid leukemia.International journal of hematology · 2017Article
- An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.Scientific reports · 2017Article
- 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
- Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.Genome research · 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
- Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency.Human mutation · 2013Article
- Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations.Nature communications · 2013Article
- Genome-wide screen reveals replication pathway for quasi-palindrome fragility dependent on homologous recombination.PLoS genetics · 2013Article
- Exclusion of the 750-kb genetically unstable region at Xq27 as a candidate locus for prostate malignancy in HPCX1-linked families.Genes, chromosomes & cancer · 2012Article
- Chromosomal translocations and palindromic AT-rich repeats.Current opinion in genetics & development · 2012Review
- Assessment of palindromes as platforms for DNA amplification in breast cancer.Genome research · 2012Article
- DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation.Molecular cytogenetics · 2011Article
- Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells.The Journal of biological chemistry · 2011Article
- The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.Clinical genetics · 2010Review
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Authors and funding
8 authors at 1 institution in 3 countries.
Funding
Abstract
Constitutional translocations at the same 22q11.21 low copy repeat B (LCR-B) breakpoint involved in the recurrent t(11;22) are relatively abundant. A novel 46,XY,t(8;22)(q24.13;q11.21) rearrangement was investigated to determine whether the recurrent LCR-B breakpoint is involved. Investigations demonstrated an inversion of the 3Mb region typically deleted in patients with the 22q11.2 deletion syndrome. The 22q11.21 inversion appears to be mediated by low copy repeats, and is presumed to have taken place prior to translocation with 8q24.13. Despite predictions based on inversions observed in other chromosomes harboring low copy repeats, this 22q11.2 inversion has not been observed previously. The current studies utilize novel laser microdissection and MLPA (multiplex ligation-dependent probe amplification) approaches, as adjuncts to FISH, to map the breakpoints of the complex rearrangements of 22q11.21 and 8q24.21. The t(8;22) occurs between the recurrent site on 22q11.21 and an AT-rich site at 8q24.13, making it the fifth different chromosomal locus characterized at the nucleotide level engaged in a translocation with the unstable recurrent breakpoint at 22q11.21. Like the others, this breakpoint occurs at the center of a palindromic sequence. This sequence appears capable of forming a perfect 145 bp stem-loop. Remarkably, this site appears to have been involved in a previously reported t(3;8) occurring between 8q24.13 and FRA3B on 3p14.2. Further, the fragile site-like nature of all of the breakpoint sites involved in translocations with the recurrent site on 22q11.21, suggests a mechanism based on delay of DNA replication in the initiation of these chromosomal rearrangements.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.