Genetic variation affects de novo translocation frequency.
Translocation is one of the most frequently occurring human chromosomal aberrations. The constitutional t(11;22)(q23;q11), which is the only known recurrent non-Robertsonian translocation, represents a good model for studying translocations in humans. Here we demonstrate polymorphisms of the palindromic sequence at the t(11;22) breakpoint that affect the frequency of de novo translocations in sperm from normal males. A typical allele consists of a perfect palindrome, producing ~10-5 de novo t(11;22) translocations. Alleles with an asymmetric center do not form the t(11;22). Our data show the importance of genome sequence on chromosomal rearrangements, a class of human mutation that is thought to be random.
Kato
Takema
T
Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake Aichi 470-1192, Japan [corrected]
Inagaki
Hidehito
H
Yamada
Kouji
K
Kogo
Hiroshi
H
Ohye
Tamae
T
Kowa
Hiroe
H
Nagaoka
Kayuri
K
Taniguchi
Mariko
M
Emanuel
Beverly S
BS
Kurahashi
Hiroki
H
D020856:AT Rich Sequence; D000483:Alleles; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion; D013094:Spermatozoa; D014178:Translocation, Genetic