Genetic Variation Affects de Novo Translocation Frequency-Reference-Cited by-同舟云学术

Genetic Variation Affects de Novo Translocation Frequency

Published:2006-02-17 Issue:5763 Volume:311 Page:971-971
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Kato Takema¹²,Inagaki Hidehito¹²,Yamada Kouji¹²,Kogo Hiroshi¹²,Ohye Tamae¹²,Kowa Hiroe¹²,Nagaoka Kayuri¹²,Taniguchi Mariko¹²,Emanuel Beverly S.¹²,Kurahashi Hiroki¹²

Affiliation:

1. Division of Molecular Genetics, Institute for Comprehensive Medical Science, Philadelphia, PA 19104, USA.

2. Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference10 articles.

1. Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction

2. Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)

3. AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation

4. The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers

5. Long AT-rich palindromes and the constitutional t(11;22) breakpoint

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