Suppr超能文献

在人类和大猩猩的拟常染色体边界1中,重组对序列分歧率几乎没有影响。

Recombination has little effect on the rate of sequence divergence in pseudoautosomal boundary 1 among humans and great apes.

作者信息

Yi Soojin, Summers Tyrone J, Pearson Nathaniel M, Li Wen-Hsiung

机构信息

Department of Ecology and Evolution, University of Chicago, Chicago, Illinois 60637, USA.

出版信息

Genome Res. 2004 Jan;14(1):37-43. doi: 10.1101/gr.1777204. Epub 2003 Dec 12.

Abstract

Recent studies indicated that recombination is strongly mutagenic. In particular, data from the mouse pseudoautosomal boundary (PAB) suggested that locally intensive recombination increased the nucleotide substitution rate by more than 100-fold and greatly increased the GC content. Here we study the rates of nucleotide substitution in eight introns of the human and great ape XG gene, which spans the boundary between the pseudoautosomal region 1 (PAR1) and the X-specific region. Contrary to what is expected under the above hypothesis, our sequence data from humans and great apes reveal that the PAR1 introns of XG have actually evolved slightly slower than X-specific introns. Only when a New World monkey was compared with hominoids were the rates slightly increased in the PAR1 introns. In terms of base composition, although the intergenic regions of the human PAR1 show a significant increase of G and C nucleotides, the base composition of the surveyed PAR1 introns is similar to that of the X-specific introns. Direct and indirect evidence indicates that the recombination rate is, indeed, much higher in PAR1 introns than in X-specific introns, and that the present PAB has persisted since the common ancestor of hominoids. Therefore, the mutagenic effect of recombination is far weaker than previously proposed, at least in hominoid PABs.

摘要

最近的研究表明,重组具有很强的致突变性。特别是,来自小鼠假常染色体边界(PAB)的数据表明,局部强烈的重组使核苷酸替换率提高了100倍以上,并大大增加了GC含量。在这里,我们研究了人类和大猩猩XG基因的八个内含子中的核苷酸替换率,该基因跨越假常染色体区域1(PAR1)和X特异性区域之间的边界。与上述假设所预期的情况相反,我们来自人类和大猩猩的序列数据显示,XG基因的PAR1内含子实际上进化得比X特异性内含子稍慢。只有当将一种新大陆猴与类人猿进行比较时,PAR1内含子的速率才略有增加。在碱基组成方面,虽然人类PAR1的基因间区域显示G和C核苷酸显著增加,但所调查的PAR1内含子的碱基组成与X特异性内含子相似。直接和间接证据表明,PAR1内含子中的重组率确实比X特异性内含子高得多,并且目前的PAB自类人猿的共同祖先以来一直存在。因此,重组的致突变作用远弱于先前提出的作用,至少在类人猿PAB中是这样。

相似文献

2
Molecular evolution of recombination hotspots and highly recombining pseudoautosomal regions in hominoids.
Mol Biol Evol. 2005 May;22(5):1223-30. doi: 10.1093/molbev/msi106. Epub 2005 Feb 9.
3
Evolution of a D2 dopamine receptor intron within the great apes and humans.
DNA Seq. 1998;8(5):289-301. doi: 10.3109/10425179809034074.
4
Evolution of the pseudoautosomal boundary in Old World monkeys and great apes.
Cell. 1990 Nov 30;63(5):977-86. doi: 10.1016/0092-8674(90)90501-5.
5
Evolution of a HOXB6 intergenic region within the great apes and humans.
J Hum Evol. 1999 Jun;36(6):687-703. doi: 10.1006/jhev.1999.0298.
6
Evolution of pro-protamine P2 genes in primates.
Eur J Biochem. 1993 Jun 1;214(2):609-15. doi: 10.1111/j.1432-1033.1993.tb17960.x.
7
Gorilla and orangutan c-myc nucleotide sequences: inference on hominoid phylogeny.
J Mol Evol. 1995 Sep;41(3):262-76. doi: 10.1007/BF00186538.
8
Differences in hypervariability within the retinoblastoma gene in the great apes.
Genomics. 1992 Dec;14(4):1112-3. doi: 10.1016/s0888-7543(05)80141-7.
9
10
Great ape DNA sequences reveal a reduced diversity and an expansion in humans.
Nat Genet. 2001 Feb;27(2):155-6. doi: 10.1038/84773.

引用本文的文献

2
Genetic Diversity on the Human X Chromosome Does Not Support a Strict Pseudoautosomal Boundary.
Genetics. 2016 May;203(1):485-92. doi: 10.1534/genetics.114.172692. Epub 2016 Mar 23.
4
A pronounced evolutionary shift of the pseudoautosomal region boundary in house mice.
Mamm Genome. 2012 Aug;23(7-8):454-66. doi: 10.1007/s00335-012-9403-5. Epub 2012 Jul 5.
5
Recombination rate variation in closely related species.
Heredity (Edinb). 2011 Dec;107(6):496-508. doi: 10.1038/hdy.2011.44. Epub 2011 Jun 15.
7
8
Contrasted microcolinearity and gene evolution within a homoeologous region of wheat and barley species.
J Mol Evol. 2008 Feb;66(2):138-50. doi: 10.1007/s00239-008-9066-8. Epub 2008 Feb 15.

本文引用的文献

1
High mutation rates in human and ape pseudoautosomal genes.
Gene. 2003 Oct 23;317(1-2):67-77. doi: 10.1016/s0378-1119(03)00697-8.
2
Abundant gene conversion between arms of palindromes in human and ape Y chromosomes.
Nature. 2003 Jun 19;423(6942):873-6. doi: 10.1038/nature01723.
3
A neutral explanation for the correlation of diversity with recombination rates in humans.
Am J Hum Genet. 2003 Jun;72(6):1527-35. doi: 10.1086/375657. Epub 2003 May 8.
5
The amelogenin loci span an ancient pseudoautosomal boundary in diverse mammalian species.
Proc Natl Acad Sci U S A. 2003 Apr 29;100(9):5258-63. doi: 10.1073/pnas.0635848100. Epub 2003 Apr 2.
6
Recombination explains isochores in mammalian genomes.
Trends Genet. 2003 Mar;19(3):128-30. doi: 10.1016/S0168-9525(03)00021-0.
7
Complex events in the evolution of the human pseudoautosomal region 2 (PAR2).
Genome Res. 2003 Feb;13(2):281-6. doi: 10.1101/gr.390503.
8
Genome evolution: recombination speeds up adaptive evolution.
Curr Biol. 2003 Jan 21;13(2):R68-70. doi: 10.1016/s0960-9822(02)01432-x.
9
Human SNP variability and mutation rate are higher in regions of high recombination.
Trends Genet. 2002 Jul;18(7):337-40. doi: 10.1016/s0168-9525(02)02669-0.
10
Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX.
Nat Genet. 2002 Jul;31(3):272-5. doi: 10.1038/ng918. Epub 2002 Jun 24.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验