title: Paternal origin of the de novo constitutional t(11;22)(q23;q11).
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.
authors.affiliation: Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan.
authors.forename: Tamae
authors.initials: T
authors.lastname: Ohye
authors.forename: Hidehito
authors.initials: H
authors.lastname: Inagaki
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kogo
authors.forename: Makiko
authors.initials: M
authors.lastname: Tsutsumi
authors.forename: Takema
authors.initials: T
authors.lastname: Kato
authors.forename: Maoqing
authors.initials: M
authors.lastname: Tong
authors.forename: Merryn V E
authors.initials: MV
authors.lastname: Macville
authors.forename: Livija
authors.initials: L
authors.lastname: Medne
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Beverly S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kurahashi
mesh_terms: 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*