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RoAM:古代甲基化组的计算重建及差异甲基化区域的识别

RoAM: computational reconstruction of ancient methylomes and identification of differentially methylated regions.

作者信息

Mathov Yoav, Rosen Naomi, Leibson Chen, Meshorer Eran, Yakir Benjamin, Carmel Liran

机构信息

Department of Genetics, The Alexander Silberman Institute of Life Sciences, Faculty of Science, the Hebrew University of Jerusalem, Jerusalem, 9190401, Israel.

Edmond and Lily Safra Center for Brain Sciences (ELSC), the Hebrew University of Jerusalem, Jerusalem, 9190401, Israel.

出版信息

Genome Biol. 2025 Sep 4;26(1):266. doi: 10.1186/s13059-025-03702-7.

Abstract

We present a new and considerably improved version of RoAM (Reconstruction of Ancient Methylation), a flexible tool for reconstructing ancient methylomes and identifying differentially methylated regions (DMRs) between populations. Through a series of filtering and quality control steps, RoAM produces highly reliable DNA methylation maps, making it a valuable tool for paleoepigenomics studies. We apply RoAM to pre-and post-Neolithic transition Balkan samples, and uncover DMRs in genes related to sugar metabolism. Notably, we observe post-Neolithic hypermethylation of PTPRN2, a regulator of insulin secretion. These results are compatible with hypoinsulinism in pre-Neolithic hunter-gatherers.

摘要

我们展示了RoAM(古代甲基化重建)的一个全新且有显著改进的版本,这是一种灵活的工具,用于重建古代甲基化组并识别不同群体之间的差异甲基化区域(DMR)。通过一系列过滤和质量控制步骤,RoAM生成了高度可靠的DNA甲基化图谱,使其成为古表观基因组学研究的宝贵工具。我们将RoAM应用于新石器时代前后过渡时期的巴尔干样本,并在与糖代谢相关的基因中发现了DMR。值得注意的是,我们观察到新石器时代后PTPRN2(胰岛素分泌调节因子)的高甲基化。这些结果与新石器时代前狩猎采集者的低胰岛素血症相符。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ded0/12409953/68afda4e6c02/13059_2025_3702_Fig1_HTML.jpg

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