基因变异会影响新生易位频率。
Genetic variation affects de novo translocation frequency.
作者信息
Kato Takema, Inagaki Hidehito, Yamada Kouji, Kogo Hiroshi, Ohye Tamae, Kowa Hiroe, Nagaoka Kayuri, Taniguchi Mariko, Emanuel Beverly S, Kurahashi Hiroki
机构信息
Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake Aichi 470-1192, Japan [corrected]
出版信息
Science. 2006 Feb 17;311(5763):971. doi: 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.
摘要
易位是人类最常见的染色体畸变之一。先天性t(11;22)(q23;q11)是唯一已知的反复出现的非罗伯逊易位，是研究人类易位的良好模型。在此，我们展示了t(11;22)断点处回文序列的多态性，这些多态性影响正常男性精子中新生易位的频率。一个典型的等位基因由一个完美的回文组成，产生约10-5的新生t(11;22)易位。具有不对称中心的等位基因不会形成t(11;22)。我们的数据显示了基因组序列在染色体重排中的重要性，染色体重排是一类被认为是随机的人类突变。
相似文献
1
Genetic variation affects de novo translocation frequency.基因变异会影响新生易位频率。
Science. 2006 Feb 17;311(5763):971. doi: 10.1126/science.1121452.
2
The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.t(11;22)染色体易位：一种可能导致染色体严重结构重排的新型机制。
Clin Genet. 2010 Oct;78(4):299-309. doi: 10.1111/j.1399-0004.2010.01445.x.
3
Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm.22q11.2 断裂点区域的多态性影响精子中新生的 t(11;22) 染色体易位的频率。
Hum Mol Genet. 2010 Jul 1;19(13):2630-7. doi: 10.1093/hmg/ddq150. Epub 2010 Apr 13.
4
Palindrome-mediated chromosomal translocations in humans.人类中回文介导的染色体易位
DNA Repair (Amst). 2006 Sep 8;5(9-10):1136-45. doi: 10.1016/j.dnarep.2006.05.035. Epub 2006 Jul 10.
5
Long AT-rich palindromes and the constitutional t(11;22) breakpoint.富含腺嘌呤-胸腺嘧啶的长回文序列与先天性t(11;22)断点
Hum Mol Genet. 2001 Nov 1;10(23):2605-17. doi: 10.1093/hmg/10.23.2605.
6
Paternal origin of the de novo constitutional t(11;22)(q23;q11).父源新发的 t(11;22)(q23;q11) 染色体结构重排。
Eur J Hum Genet. 2010 Jul;18(7):783-7. doi: 10.1038/ejhg.2010.20. Epub 2010 Feb 24.
7
Chromosomal translocations and palindromic AT-rich repeats.染色体易位和回文 AT 富含重复序列。
Curr Opin Genet Dev. 2012 Jun;22(3):221-8. doi: 10.1016/j.gde.2012.02.004. Epub 2012 Mar 6.
8
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).一种具有 3:1 减数分裂不分离的回文介导的反复易位：t(8;22)(q24.13;q11.21)。
Am J Hum Genet. 2010 Aug 13;87(2):209-18. doi: 10.1016/j.ajhg.2010.07.002. Epub 2010 Jul 30.
9
AT-rich palindromes mediate the constitutional t(11;22) translocation.富含AT的回文序列介导了先天性t(11;22)易位。
Am J Hum Genet. 2001 Jan;68(1):1-13. doi: 10.1086/316952. Epub 2000 Nov 28.
10
Chromosomal translocations mediated by palindromic DNA.由回文DNA介导的染色体易位
Cell Cycle. 2006 Jun;5(12):1297-303. doi: 10.4161/cc.5.12.2809. Epub 2006 Jun 15.
引用本文的文献
1
Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome.多个旁系同源基因和重组机制导致了22q11.2缺失综合征的高发病率。
Genome Res. 2025 Apr 14;35(4):786-797. doi: 10.1101/gr.279331.124.
2
Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations.作为 PATRR 介导的易位中基因组不稳定性的指标的双链断裂 (DSBs)。
Hum Mol Genet. 2021 Feb 25;29(24):3872-3881. doi: 10.1093/hmg/ddaa251.
3
A curious new role for MRN in Schizosaccharomyces pombe non-homologous end-joining.MRN在粟酒裂殖酵母非同源末端连接中的一种奇特新作用。
Curr Genet. 2018 Apr;64(2):359-364. doi: 10.1007/s00294-017-0760-1. Epub 2017 Oct 10.
4
Nonhomologous End-Joining with Minimal Sequence Loss Is Promoted by the Mre11-Rad50-Nbs1-Ctp1 Complex in .Mre11-Rad50-Nbs1-Ctp1复合物促进了具有最小序列损失的非同源末端连接。
Genetics. 2017 May;206(1):481-496. doi: 10.1534/genetics.117.200972. Epub 2017 Mar 14.
5
Palindrome-Mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements.人类中的回文介导易位：一种染色体大片段重排的新机制模型
Front Genet. 2016 Jul 12;7:125. doi: 10.3389/fgene.2016.00125. eCollection 2016.
6
Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.复发性染色体平衡易位t(8;22)(q24.13;q11.21)的断点分析
Mol Cytogenet. 2014 Aug 13;7:55. doi: 10.1186/s13039-014-0055-x. eCollection 2014.
7
Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation.遗传性肾细胞癌t(3;8)的分析：一种回文介导的易位。
Cancer Genet. 2014 Apr;207(4):133-40. doi: 10.1016/j.cancergen.2014.03.004. Epub 2014 Mar 18.
8
The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.男性中非等位基因同源重组的速率高度可变，在同卵双胞胎之间具有相关性，且与年龄无关。
PLoS Genet. 2014 Mar 6;10(3):e1004195. doi: 10.1371/journal.pgen.1004195. eCollection 2014 Mar.
9
Competitive superhelical transitions involving cruciform extrusion.涉及十字形挤出的竞争超螺旋转变。
Nucleic Acids Res. 2013 Nov;41(21):9610-21. doi: 10.1093/nar/gkt733. Epub 2013 Aug 22.
10
Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations.两个连续的裂解反应导致了十字形 DNA 结构的回文介导的染色体易位。
Nat Commun. 2013;4:1592. doi: 10.1038/ncomms2595.
本文引用的文献
1
A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2.一种回文介导的机制可区分涉及22q11.2染色体LCR-B的易位。
Hum Mol Genet. 2004 Jan 1;13(1):103-15. doi: 10.1093/hmg/ddh004. Epub 2003 Nov 12.
2
A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22).一种基于序列的定位易位断点的新方法确定了t(4;22)的分子基础。
Hum Mol Genet. 2003 Nov 1;12(21):2817-25. doi: 10.1093/hmg/ddg301. Epub 2003 Sep 2.
3
The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.染色体组型t(17;22)：另一种由富含AT的回文重复序列介导的易位。
Am J Hum Genet. 2003 Mar;72(3):733-8. doi: 10.1086/368062. Epub 2003 Jan 29.
4
Long AT-rich palindromes and the constitutional t(11;22) breakpoint.富含腺嘌呤-胸腺嘧啶的长回文序列与先天性t(11;22)断点
Hum Mol Genet. 2001 Nov 1;10(23):2605-17. doi: 10.1093/hmg/10.23.2605.
5
Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males.正常男性精子中出现意外高比例的新生染色体t(11;22)易位。
Nat Genet. 2001 Oct;29(2):139-40. doi: 10.1038/ng1001-139.
6
AT-rich palindromes mediate the constitutional t(11;22) translocation.富含AT的回文序列介导了先天性t(11;22)易位。
Am J Hum Genet. 2001 Jan;68(1):1-13. doi: 10.1086/316952. Epub 2000 Nov 28.
7
Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).22q11和11q23上的基因组不稳定区域作为复发性染色体核型t(11;22)的病因。
Hum Mol Genet. 2000 Jul 1;9(11):1665-70. doi: 10.1093/hmg/9.11.1665.
8
Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction.在几个不相关的家族中出现特定部位的相互易位，即t(11;22) (q23;q11)，伴有3:1减数分裂分离。
Am J Med Genet. 1980;7(4):507-21. doi: 10.1002/ajmg.1320070412.
Zotero 插件