Suppr超能文献

斑胸草雀的突变和重组参数与哺乳动物的相似。

Mutation and recombination parameters in zebra finch are similar to those in mammals.

作者信息

Prentout Djivan, Bykova Daria, Hoge Carla, Hooper Daniel M, McDiarmid Callum S, Wu Felix, Griffith Simon C, de Manuel Marc, Przeworski Molly

机构信息

Dept. of Biological Sciences, Columbia University.

Institute for Comparative Genomics and Richard Gilder Graduate School, American Museum of Natural History, New York, New York, USA.

出版信息

bioRxiv. 2025 Feb 17:2024.09.05.611523. doi: 10.1101/2024.09.05.611523.

Abstract

Most of our understanding of the fundamental processes of mutation and recombination stems from a handful of disparate model organisms and pedigree studies of mammals, with little known about other vertebrates. To gain a broader comparative perspective, we focused on the zebra finch (), which, like other birds, differs from mammals in its karyotype (which includes many micro-chromosomes), in the mechanism by which recombination is directed to the genome, and in aspects of ontogenesis. We collected genome sequences from three generation pedigrees that provide information about 80 meioses, inferring 202 single-point mutations, 1,174 crossovers, and 275 non-crossovers. On that basis, we estimated a sex-averaged mutation rate of 5.0 × 10 per base pair per generation, on par with mammals that have a similar generation time (2-3 years). Also as in mammals, we found a paternal germline mutation bias at later stages of gametogenesis (of 1.7:1) but no discernible difference between sexes in early development. Examining recombination patterns, we found that the sex-averaged crossover rate on macro-chromosomes (1.05 cM/Mb) is again similar to values observed in mammals, as is the spatial distribution of crossovers, with a pronounced enrichment near telomeres. In contrast, non-crossover rates are more uniformly distributed. On micro-chromosomes, sex-averaged crossover rates are substantially higher (4.21 cM/Mb), as expected from crossover homeostasis, and both crossover and non-crossover events are more uniformly distributed. At a finer scale, recombination events overlap CpG islands more often than expected by chance, as expected in the absence of PRDM9. Despite differences in the mechanism by which recombination events are specified and the presence of many micro-chromosomes, estimates of the degree of GC-biased gene conversion (59%), the mean non-crossover conversion tract length (32 bp), and the non-crossover-to-crossover ratio (5.4:1) are all comparable to those reported in primates and mice. The similarity of mutation and recombination properties in zebra finch to those in mammals suggest that they are conserved by natural selection.

摘要

我们对突变和重组基本过程的大部分理解源于少数几种不同的模式生物以及哺乳动物的谱系研究,而对于其他脊椎动物知之甚少。为了获得更广泛的比较视角,我们聚焦于斑胸草雀,它与其他鸟类一样,在核型(包括许多微小染色体)、重组导向基因组的机制以及个体发育方面与哺乳动物不同。我们从三代谱系中收集了基因组序列,这些序列提供了有关80次减数分裂的信息,推断出202个单点突变、1174次交叉和275次非交叉。在此基础上,我们估计每代每个碱基对的性别平均突变率为5.0×10,与具有相似世代时间(约2 - 3年)的哺乳动物相当。同样与哺乳动物一样,我们发现在配子发生后期父系生殖系存在突变偏差(比例为1.7:1),但在早期发育中两性之间没有明显差异。检查重组模式时,我们发现宏观染色体上的性别平均交叉率(1.05 cM/Mb)再次与在哺乳动物中观察到的值相似,交叉的空间分布也是如此,在端粒附近有明显富集。相比之下,非交叉率分布更为均匀。在微小染色体上,性别平均交叉率显著更高(4.21 cM/Mb),这与交叉稳态预期一致,并且交叉和非交叉事件分布都更均匀。在更精细的尺度上,重组事件比偶然预期更频繁地与CpG岛重叠,这在没有PRDM9的情况下是预期的。尽管在指定重组事件的机制以及存在许多微小染色体方面存在差异,但GC偏向基因转换程度(59%)、平均非交叉转换片段长度(约32 bp)以及非交叉与交叉比率(5.4:1)的估计值都与灵长类动物和小鼠中报道的相当。斑胸草雀的突变和重组特性与哺乳动物的相似性表明它们是通过自然选择保守下来的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89d1/11867472/3b4fa8cd27b7/nihpp-2024.09.05.611523v2-f0001.jpg

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