Paternal origin of the de novo constitutional t(11;22)(q23;q11) |
| |
| Authors: | Tamae Ohye Hidehito Inagaki Hiroshi Kogo Makiko Tsutsumi Takema Kato Maoqing Tong Merryn V E Macville Livija Medne Elaine H Zackai Beverly S Emanuel Hiroki Kurahashi |
| |
| Affiliation: | 1.Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan;2.Division of Clinical Genetics, University of Hospital Maastricht, Maastricht, Netherlands;3.Division of Human Genetics, The Children''s Hospital of Philadelphia, Philadelphia, PA, USA;4.Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA |
| |
| 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. |
| |
| Keywords: | recurrent non-Robertsonian translocation parental origin germ cells |
|
|
