Genetic Variation Affects de Novo Translocation Frequency
- 17 February 2006
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 311 (5763), 971
- https://doi.org/10.1126/science.1121452
Abstract
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.Keywords
This publication has 9 references indexed in Scilit:
- A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2Human Molecular Genetics, 2004
- A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22)Human Molecular Genetics, 2003
- The Constitutional t(17;22): Another Translocation Mediated by Palindromic AT-Rich RepeatsAmerican Journal of Human Genetics, 2003
- Long AT-rich palindromes and the constitutional t(11;22) breakpointHuman Molecular Genetics, 2001
- Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal malesNature Genetics, 2001
- The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriersHuman Genetics, 2001
- AT-Rich Palindromes Mediate the Constitutional t(11;22) TranslocationAmerican Journal of Human Genetics, 2001
- Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).Human Molecular Genetics, 2000
- Site‐specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunctionAmerican Journal of Medical Genetics, 1980