Holleley Clare E, Hahn Erin E
National Research Collections Australia, Commonwealth Scientific Industrial Research Organisation, Canberra, Australian Capital Territory, Australia.
Mol Ecol Resour. 2025 Apr;25(3):e14065. doi: 10.1111/1755-0998.14065. Epub 2025 Jan 2.
Formalin preservation of museum specimens has long been considered a barrier to molecular research due to extensive crosslinking and chemical modification. However, recent optimisation of hot alkaline lysis and proteinase K digestion DNA extraction methods have enabled a growing number of studies to overcome these challenges and conduct genome-wide re-sequencing and targeted locus-specific sequencing. The newest, and perhaps most unexpected utility of formalin preservation in archival samples is its ability to preserve in situ DNA-protein interactions at a molecular level. Retrieving this signal provides information about the relative compaction or accessibility of the genome to the transcriptional machinery required for gene expression. Thus, exposure to formalin essentially corresponds to taking a snapshot of organism-wide gene expression at the time of death. While DNA methylation and RNA-Seq analyses of dried tissues have provided glimpses into historical gene regulation, these techniques were previously limited to skeletal or desiccated remains, offering only partial insights. By examining fluid-preserved specimens, molecular tools can now be applied to a broader range of tissues, enabling more detailed tissue-specific gene regulation profiling across vertebrates. In this review, we chronicle the historical use of formaldehyde in collections and discuss how targeted chromatin profiling with assays like MNase-seq and FAIRE-seq are surmounting fixation challenges and unlocking invaluable insights into historical genomes and gene expression profiles. The deeper integration of molecular genetics with museum collections bridges the gap between past and present and provides a vital tool that could help us predict and mitigate some of the impacts of future environmental change, novel pathogens, or invasive species.
长期以来,由于广泛的交联和化学修饰,博物馆标本的福尔马林保存一直被认为是分子研究的障碍。然而,最近对热碱性裂解和蛋白酶K消化DNA提取方法的优化,使得越来越多的研究能够克服这些挑战,并进行全基因组重测序和靶向位点特异性测序。福尔马林保存在档案样本中的最新、或许也是最意想不到的用途,是其在分子水平上原位保存DNA-蛋白质相互作用的能力。获取这种信号可提供有关基因组相对于基因表达所需转录机制的相对压缩或可及性的信息。因此,暴露于福尔马林基本上相当于在死亡时对整个生物体的基因表达进行快照。虽然对干燥组织的DNA甲基化和RNA测序分析已经让我们对历史基因调控有所了解,但这些技术以前仅限于骨骼或干燥的遗骸,只能提供部分见解。通过检查液体保存的标本,分子工具现在可以应用于更广泛的组织,从而能够在脊椎动物中进行更详细的组织特异性基因调控分析。在这篇综述中,我们记录了甲醛在标本收藏中的历史用途,并讨论了像MNase-seq和FAIRE-seq等检测方法进行的靶向染色质分析如何克服固定挑战,并为历史基因组和基因表达谱带来宝贵的见解。分子遗传学与博物馆标本收藏的更深入整合弥合了过去与现在之间的差距,并提供了一个重要工具,有助于我们预测和减轻未来环境变化、新型病原体或入侵物种的一些影响。