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凤头麦鸡(Falco naumanni)中基因座和个体的特征与种系微卫星突变率相关。

Characteristics of loci and individuals are associated with germline microsatellite mutation rates in lesser kestrels (Falco naumanni).

作者信息

Ortego Joaquín, Aparicio José Miguel, Cordero Pedro J, Calabuig Gustau

机构信息

Departamento de Ecología Evolutiva, Museo Nacional de Ciencias Naturales (CSIC), Madrid, Spain.

出版信息

Mutat Res. 2008 Dec 15;648(1-2):82-6. doi: 10.1016/j.mrfmmm.2008.09.012. Epub 2008 Oct 7.

Abstract

Although microsatellites are one of the most popular tools in genetic studies, their mutational dynamics and evolution remain unclear. Here, we apply extensive pedigree genotyping to identify and analyze the patterns and factors associated with de novo germline mutations across nine microsatellite loci in a wild population of lesser kestrels (Falco naumanni). A total of 10 germline mutations events were unambiguously identified in four loci, yielding an average mutation rate of 2.96x10(-3). Across loci, mutation rate was positively correlated with locus variability and average allele size. Mutations were primarily compatible with a stepwise mutation model, although not exclusively involved single-step changes. Unexpectedly, we found an excess of maternally transmitted mutations (male-to-female ratio of 0.1). One of the analyzed loci (Fn2.14) resulted hypermutable (mutation rate=0.87%). This locus showed a size-dependent mutation bias, with longer alleles displaying deletions or additions of a small number of repeat than shorter alleles. Mutation probability at Fn2.14 was higher for females and increased with parental (maternal) age but was not associated with individual physical condition, multilocus heterozygosity, allele length or allele span. Overall, our results do not support the male-biased mutation rate described in other organisms and suggest that mutation dynamics at microsatellite loci are a complex process which requires further research.

摘要

尽管微卫星是基因研究中最常用的工具之一,但其突变动态和进化仍不清楚。在此,我们应用广泛的系谱基因分型来识别和分析与黄爪隼(Falco naumanni)野生种群中9个微卫星位点的新生种系突变相关的模式和因素。在4个位点共明确鉴定出10个种系突变事件,平均突变率为2.96×10⁻³。在各个位点中,突变率与位点变异性和平均等位基因大小呈正相关。突变主要符合逐步突变模型,尽管并不完全涉及单步变化。出乎意料的是,我们发现母系传递的突变过多(雄雌比例为0.1)。其中一个分析位点(Fn2.14)呈现出高突变性(突变率=0.87%)。该位点显示出大小依赖性突变偏差,较长的等位基因比较短的等位基因表现出少量重复序列的缺失或增加。Fn2.14位点的突变概率在雌性中更高,并且随亲本(母本)年龄增加,但与个体身体状况、多位点杂合性、等位基因长度或等位基因跨度无关。总体而言,我们的结果不支持其他生物中描述的雄性偏向突变率,并表明微卫星位点的突变动态是一个复杂的过程,需要进一步研究。

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