TY - JOUR
T1 - Paternal origin of the de novo constitutional t(11;22)(q23;q11)
AU - Ohye, Tamae
AU - Inagaki, Hidehito
AU - Kogo, Hiroshi
AU - Tsutsumi, Makiko
AU - Kato, Takema
AU - Tong, Maoqing
AU - Macville, Merryn V. E.
AU - Medne, Livija
AU - Zackai, Elaine H.
AU - Emanuel, Beverly S.
AU - Kurahashi, Hiroki
PY - 2010/7
Y1 - 2010/7
N2 - 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. European Journal of Human Genetics (2010) 18, 783-787; doi: 10.1038/ejhg.2010.20; published online 24 February 2010
AB - 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. European Journal of Human Genetics (2010) 18, 783-787; doi: 10.1038/ejhg.2010.20; published online 24 February 2010
KW - recurrent non-Robertsonian translocation
KW - parental origin
KW - germ cells
U2 - 10.1038/ejhg.2010.20
DO - 10.1038/ejhg.2010.20
M3 - Article
C2 - 20179746
SN - 1018-4813
VL - 18
SP - 783
EP - 787
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 7
ER -