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

Recombination has little effect on the rate of sequence divergence in pseudoautosomal boundary 1 among humans and great apes.
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重组对人类和类人猿中拟常染色体边界 1 的序列分歧率影响不大。

DOI:
10.1101/gr.1777204
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发表时间:
2004
期刊:
Genome research.
影响因子:
--
通讯作者:
Li,Wen-Hsiung
Li,Wen-Hsiung
中科院分区:
--
文献类型:
--
作者:
Yi,Soojin;Summers,TyroneJ;Pearson,NathanielM;Li,Wen-Hsiung

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最近的研究表明,重组是强烈的诱变。特别是,来自小鼠假常染色体边界(PAB)的数据表明,局部密集重组使核苷酸取代率增加了100倍以上,并大大增加了GC含量。在这里,我们研究了8个内含子的人类和大apeXG基因,跨越之间的边界的假常染色体区域1(PAR 1)和X-特异性区域的核苷酸取代率。与上述假设所预期的相反,我们从人类和类人猿中获得的序列数据显示,XG的PAR 1内含子实际上比X特异性内含子进化得稍慢。只有当新大陆猴与类人猿相比时,PAR 1内含子的比率才略有增加。在碱基组成方面,虽然人类PAR 1的基因间区域显示出G和C核苷酸的显著增加,但所调查的PAR 1内含子的碱基组成与X特异性内含子的碱基组成相似。直接和间接的证据表明,重组率是,事实上,在PAR 1内含子比在X-特异性内含子高得多,目前的PAB已经持续以来的共同祖先的类人猿。因此,重组的致突变作用远弱于以前提出的,至少在类人猿PAB。
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 apeXGgene, 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 ofXGhave 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.
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