ArticleEuropean journal of human genetics : EJHG2010
Paternal origin of the de novo constitutional t(11;22)(q23;q11).
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 99 citations in OpenAlex.
- Advanced Paternal Age and Future Generations.Frontiers in endocrinology · 2022Review
- Palindromes in DNA-A Risk for Genome Stability and Implications in Cancer.International journal of molecular sciences · 2021Review
- Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations.Human molecular genetics · 2021Article
- Alternative DNA StructuresMicrobiology and molecular biology reviews : MMBR · 2021Review
- Cruciform DNA in mouse growing oocytes: Its dynamics and its relationship with DNA transcription.PloS one · 2020Article
- 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
- Palindrome-Mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements.Frontiers in genetics · 2016Review
- Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.Molecular cytogenetics · 2014Article
- Chromosomal translocations and palindromic AT-rich repeats.Current opinion in genetics & development · 2012Review
- Failure of homologous synapsis and sex-specific reproduction problems.Frontiers in genetics · 2012Article
- DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation.Molecular cytogenetics · 2011Article
- Advanced age increases chromosome structural abnormalities in human spermatozoa.European journal of human genetics : EJHG · 2011Article
- The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.Clinical genetics · 2010Review
- A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).American journal of human genetics · 2010Article
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Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
Abstract
The constitutional t(11;22)(q23;q11) is a well-known recurrent non-Robertsonian translocation in humans. Although translocations generally occur in a random fashion, the break points of t(11;22)s are concentrated within several hundred base pairs on 11q23 and 22q11. These regions are characterized by palindromic AT-rich repeats (PATRRs), which appear to be responsible for the genomic instability. Translocation-specific PCR detects de novo t(11;22)s in sperm from healthy males at a frequency of 1/10(4)-10(5), but never in lymphoblasts, fibroblasts or other human somatic cell lines. This suggests that the generation of t(11;22) rearrangement is linked to gametogenesis, although female germ cells have not been tested. Here, we have studied eight cases of de novo t(11;22) to determine the parental origin of the translocation using the polymorphisms on the relevant PATRRs. All of the eight translocations were found to be of paternal origin. This result implicates a possible novel mechanism of sperm-specific generation of palindrome-mediated chromosomal translocations.
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