Yi Soojin, Summers Tyrone J, Pearson Nathaniel M, Li Wen-Hsiung
Department of Ecology and Evolution, University of Chicago, Chicago, Illinois 60637, USA.
Genome Res. 2004 Jan;14(1):37-43. doi: 10.1101/gr.1777204. Epub 2003 Dec 12.
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.
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。