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鸡和火鸡常染色体、Z 染色体连锁和 W 染色体连锁内含子中雄性偏向的突变率及分化

Male-biased mutation rate and divergence in autosomal, z-linked and w-linked introns of chicken and Turkey.

作者信息

Axelsson Erik, Smith Nick G C, Sundström Hannah, Berlin Sofia, Ellegren Hans

机构信息

Department of Evolutionary Biology, Evolutionary Biology Centre, Uppsala University, Sweden.

出版信息

Mol Biol Evol. 2004 Aug;21(8):1538-47. doi: 10.1093/molbev/msh157. Epub 2004 May 12.

Abstract

To investigate mutation-rate variation between autosomes and sex chromosomes in the avian genome, we have analyzed divergence between chicken (Gallus gallus) and turkey (Meleagris galopavo) sequences from 33 autosomal, 28 Z-linked, and 14 W-linked introns with a total ungapped alignment length of approximately 43,000 bp. There are pronounced differences in the mean divergence among autosomes and sex chromosomes (autosomes [A] = 10.08%, Z chromosome = 10.99%, and W chromosome = 5.74%), and we use these data to estimate the male-to-female mutation-rate ratio (alpha(m)) from Z/A, Z/W, and A/W comparisons at 1.71, 2.37, and 2.52, respectively. Because the alpha(m) estimates of the three comparisons do not differ significantly, we find no statistical support for a specific reduction in the Z chromosome mutation rate (Z reduction estimated at 4.89%, P = 0.286). The idea of mutation-rate reduction in the sex chromosome hemizygous in one sex (i.e., X in mammals, Z in birds) has been suggested on the basis of theory on adaptive mutation-rate evolution. If it exists in birds, the effect would, thus, seem to be weak; a preliminary power analysis suggests that it is significantly less than 18%. Because divergence may vary within chromosomal classes as a result of variation in mutation and/or selection, we developed a novel double-bootstrapping method, bootstrapping both by introns and sites from concatenated alignments, to estimate confidence intervals for chromosomal class rates and for alpha(m). The narrowest interval for the alpha(m) estimate is 1.88 to 2.97 from the Z/W comparison. We also estimated alpha(m) using maximum likelihood on data from all three chromosome classes; this method yielded alpha(m) = 2.47 and approximate 95% confidence intervals of 2.27 to 2.68. Our data are broadly consistent with the idea that mutation-rate differences between chromosomal classes can be explained by the male mutation bias alone.

摘要

为了研究鸟类基因组常染色体与性染色体之间的突变率差异,我们分析了鸡(原鸡)和火鸡序列中33个常染色体、28个Z连锁和14个W连锁内含子之间的差异,总无间隙比对长度约为43,000 bp。常染色体和性染色体之间的平均差异存在显著差异(常染色体[A]=10.08%,Z染色体=10.99%,W染色体=5.74%),我们利用这些数据分别从Z/A、Z/W和A/W比较中估计雌雄突变率比(α(m)),分别为1.71、2.37和2.52。由于三次比较的α(m)估计值没有显著差异,我们没有找到支持Z染色体突变率特定降低的统计证据(Z降低估计为4.89%,P=0.286)。基于适应性突变率进化理论,有人提出在一种性别中半合子的性染色体(即哺乳动物中的X,鸟类中的Z)突变率降低的观点。如果在鸟类中存在这种情况,那么这种影响似乎很微弱;初步功效分析表明,这种影响明显小于18%。由于突变和/或选择的差异,染色体类别内的差异可能会有所不同,我们开发了一种新的双重自展法,通过串联比对中的内含子和位点进行自展,以估计染色体类别速率和α(m)的置信区间。Z/W比较中α(m)估计的最窄区间为1.88至2.97。我们还使用最大似然法对所有三个染色体类别的数据估计α(m);该方法得出α(m)=2.47,近似95%置信区间为2.27至2.68。我们的数据与染色体类别之间的突变率差异仅由雄性突变偏差解释的观点大致一致。

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