单细胞长读长全基因组测序揭示了人类大脑中的体细胞转座子活性。

Single cell long read whole genome sequencing reveals somatic transposon activity in human brain.

作者信息

Izydorczyk Michal B, Kalef-Ezra Ester, Horner Dominic W, Zheng Xinchang, Holmes Nadine, Toffoli Marco, Sahin Zeliha Gozde, Han Yi, Mehta Heer H, Muzny Donna M, Ameur Adam, Sedlazeck Fritz J, Proukakis Christos

机构信息

Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.

Department of Clinical and Movement Neurosciences, Royal Free Campus, Queen Square Institute of Neurology, University College London, London, UK.

出版信息

medRxiv. 2024 Nov 11:2024.11.11.24317113. doi: 10.1101/2024.11.11.24317113.

DOI:10.1101/2024.11.11.24317113

PMID:39606404

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11601780/

Abstract

The advent of single cell DNA sequencing revealed astonishing dynamics of genomic variability, but failed at characterizing smaller to mid size variants that on the germline level have a profound impact. In this work we discover novel dynamics in three brains utilizing single cell long-read sequencing. This provides key insights into the dynamic of the genomes of individual cells and further highlights brain specific activity of transposable elements.

摘要

单细胞DNA测序的出现揭示了基因组变异性的惊人动态，但在表征较小至中等大小的变异方面却无能为力，而这些变异在种系水平上具有深远影响。在这项工作中，我们利用单细胞长读长测序在三个大脑中发现了新的动态。这为单个细胞基因组的动态提供了关键见解，并进一步突出了转座元件的大脑特异性活性。