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 1/104–105, 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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Acknowledgements
This work was supported by grant-in-aids for Scientific Research, from the Ministry of Health, Labour and Welfare and the Ministry of Education, Culture, Sports, Science and Technology of Japan (19590322 and 21590346 to TO, 21390101 to HK), and CA39926 from the National Institutes of Health, USA as well as funds from the Charles EH Upham chair of Pediatrics (BSE).
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Ohye, T., Inagaki, H., Kogo, H. et al. Paternal origin of the de novo constitutional t(11;22)(q23;q11). Eur J Hum Genet 18, 783–787 (2010). https://doi.org/10.1038/ejhg.2010.20
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DOI: https://doi.org/10.1038/ejhg.2010.20
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