Genetic variation affects de novo translocation frequency

Science. 2006 Feb 17;311(5763):971. doi: 10.1126/science.1121452.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • AT Rich Sequence
  • Alleles
  • Gene Frequency
  • Genetic Variation*
  • Genotype
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Repetitive Sequences, Nucleic Acid
  • Sequence Deletion
  • Spermatozoa*
  • Translocation, Genetic*