Paternal origin of the de novo constitutional t(11;22)(q23;q11).
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.
Ohye
Tamae
T
Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan.
Inagaki
Hidehito
H
Kogo
Hiroshi
H
Tsutsumi
Makiko
M
Kato
Takema
T
Tong
Maoqing
M
Macville
Merryn V E
MV
Medne
Livija
L
Zackai
Elaine H
EH
Emanuel
Beverly S
BS
Kurahashi
Hiroki
H
D000483:Alleles; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D010290:Parents; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014178:Translocation, Genetic / Q000235:genetics*