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利用狒狒和山魈基因组评估 Y 染色体微卫星的种群基因组数据恢复情况。

Assessing the recovery of Y chromosome microsatellites with population genomic data using Papio and Theropithecus genomes.

机构信息

Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parco Area Delle Scienze, 11/a, 43124, Parma, Italy.

Barcelona Supercomputing Centre (BSC-CNS), Plaça Eusebi Güell, 1-3, 08034, Barcelona, Spain.

出版信息

Sci Rep. 2023 Aug 24;13(1):13839. doi: 10.1038/s41598-023-40931-x.

Abstract

Y chromosome markers can shed light on male-specific population dynamics but for many species no such markers have been discovered and are available yet, despite the potential for recovering Y-linked loci from available genome sequences. Here, we investigated how effective available bioinformatic tools are in recovering informative Y chromosome microsatellites from whole genome sequence data. In order to do so, we initially explored a large dataset of whole genome sequences comprising individuals at various coverages belonging to different species of baboons (genus: Papio) using Y chromosome references belonging to the same genus and more distantly related species (Macaca mulatta). We then further tested this approach by recovering Y-STRs from available Theropithecus gelada genomes using Papio and Macaca Y chromosome as reference sequences. Identified loci were validated in silico by a) comparing within-species relationships of Y chromosome lineages and b) genotyping male individuals in available pedigrees. Each STR was selected not to extend in its variable region beyond 100 base pairs, so that loci can be developed for PCR-based genotyping of non-invasive DNA samples. In addition to assembling a first set of Papio and Theropithecus Y-specific microsatellite markers, we released TYpeSTeR, an easy-to-use script to identify and genotype Y chromosome STRs using population genomic data which can be modulated according to available male reference genomes and genomic data, making it widely applicable across taxa.

摘要

Y 染色体标记物可以揭示雄性特有的种群动态,但对于许多物种来说,尽管有可能从现有基因组序列中恢复 Y 连锁基因座,但尚未发现和可用。在这里,我们研究了现有的生物信息学工具在从全基因组序列数据中恢复有信息的 Y 染色体微卫星方面的有效性。为此,我们最初使用属于同一属和更远缘物种(猕猴)的 Y 染色体参考序列,探索了一个包含不同狒狒物种(属:狒狒)个体的大型全基因组序列数据集,这些个体具有不同的覆盖率。然后,我们使用 Papio 和 Macaca Y 染色体作为参考序列,从现有的 Theropithecus gelada 基因组中进一步测试了这种方法。通过在现有系谱中对雄性个体进行基因分型,然后在体内验证了鉴定的基因座。每个 STR 都选择在其可变区域内不扩展超过 100 个碱基对,以便可以开发用于基于 PCR 的非侵入性 DNA 样本基因分型的基因座。除了组装第一套狒狒和狒狒 Y 特异性微卫星标记物外,我们还发布了 TYpeSTeR,这是一个易于使用的脚本,可以使用群体基因组数据识别和基因分型 Y 染色体 STR,根据可用的雄性参考基因组和基因组数据进行调制,使其在整个分类群中广泛适用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2f72/10449864/a66887958d34/41598_2023_40931_Fig1_HTML.jpg

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