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通过推断同源片段来估计野生猕猴的实际亲缘关系。

Estimating realized relatedness in free-ranging macaques by inferring identity-by-descent segments.

作者信息

Freudiger Annika, Jovanovic Vladimir M, Huang Yilei, Snyder-Mackler Noah, Conrad Donald F, Miller Brian, Montague Michael J, Westphal Hendrikje, Stadler Peter F, Bley Stefanie, Horvath Julie E, Brent Lauren J N, Platt Michael L, Ruiz-Lambides Angelina, Tung Jenny, Nowick Katja, Ringbauer Harald, Widdig Anja

机构信息

Department of Primate Behavioral Ecology, Institute of Biology, Leipzig University, Leipzig 04103, Germany.

Department of Primate Behavior and Evolution, Max Planck Institute for Evolutionary Anthropology, Leipzig 04103, Germany.

出版信息

Proc Natl Acad Sci U S A. 2025 Jan 21;122(3):e2401106122. doi: 10.1073/pnas.2401106122. Epub 2025 Jan 14.

Abstract

Biological relatedness is a key consideration in studies of behavior, population structure, and trait evolution. Except for parent-offspring dyads, pedigrees capture relatedness imperfectly. The number and length of identical-by-descent DNA segments (IBD) yield the most precise relatedness estimates. Here, we leverage different methods for estimating IBD segments from low-depth whole genome resequencing data to demonstrate the feasibility and value of resolving fine-scaled gradients of relatedness in free-living animals. Using primarily 4 to 6× depth data from a rhesus macaque () population with long-term pedigree data, we show that we can infer the number and length of IBD segments across the genome with high accuracy even at 0.5× sequencing depth. In line with expectations based on simulation, the resulting estimates demonstrate substantial variation in genetic relatedness within kin classes, leading to overlapping distributions between kin classes. By comparing the IBD-based estimates with pedigree and short tandem repeat-based methods, we show that IBD estimates are more reliable and provide more detailed information on kinship. The inferred IBD segments also identify cryptic genetic relatives not represented in the pedigree and reveal elevated recombination rates in females relative to males, which enables the majority of close maternal and paternal kin to be distinguished with genotype data alone. Our findings represent a breakthrough in the ability to study the predictors and consequences of genetic relatedness in natural populations, contributing to our understanding of a fundamental component of population structure in the wild.

摘要

生物学关联性是行为、种群结构和性状进化研究中的一个关键考量因素。除了亲子二元组外,谱系对关联性的捕捉并不完美。同宗同源DNA片段(IBD)的数量和长度能得出最精确的关联性估计值。在此,我们利用从低深度全基因组重测序数据中估计IBD片段的不同方法,来证明解析自由生活动物中精细尺度关联性梯度的可行性和价值。主要使用来自具有长期谱系数据的恒河猴种群的4至6倍深度数据,我们表明即使在0.5倍测序深度下,我们也能高精度地推断全基因组中IBD片段的数量和长度。与基于模拟的预期一致,所得估计值表明亲属类别内遗传关联性存在显著差异,导致亲属类别之间的分布重叠。通过将基于IBD的估计值与基于谱系和短串联重复序列的方法进行比较,我们表明IBD估计值更可靠,并能提供有关亲属关系的更详细信息。推断出的IBD片段还能识别谱系中未出现的隐秘遗传亲属,并揭示雌性相对于雄性更高的重组率,这使得仅通过基因型数据就能区分大多数近亲的母系和父系亲属。我们的研究结果代表了在研究自然种群中遗传关联性的预测因素和后果方面的一项突破,有助于我们理解野生种群结构的一个基本组成部分。

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