Fracassi Cristina, Simoni Matilde, Uggè Martina, Morelli Marco J, Bernardi Rosa
Division of Experimental Oncology, IRCCS San Raffaele Scientific Institute, Milano, Italy.
Center for Omics Sciences, IRCCS San Raffaele Scientific Institute, Milano, Italy.
Heliyon. 2024 Aug 17;10(17):e36499. doi: 10.1016/j.heliyon.2024.e36499. eCollection 2024 Sep 15.
Heterochromatin is a pivotal element in the functional organization of genomes. In our study, we delve into the heterochromatin pattern of association by the PML (promyelocytic leukemia) protein. By using PML chromatin immunoprecipitation and sequencing data and comparing computational methodologies to depict PML chromatin association, we describe PML-associated domains or PADs as large heterochromatic regions that exhibit similar genomic features across cancer cell lines. We show that PADs are specifically enriched in non-coding genes, duplicated gene clusters, and repetitive DNA elements. Moreover, we find enriched binding motifs of KZFPs, which are involved in orchestrating epigenetic repression at repetitive DNA elements. Hence, our findings suggest that PML conservatively associates to heterochromatic domains enriched in repetitive DNA elements and duplicated gene clusters in cancer. These findings contribute to a broader understanding of the complex regulatory framework of genome organization by heterochromatin in cancer.
异染色质是基因组功能组织中的关键要素。在我们的研究中,我们深入探究了早幼粒细胞白血病(PML)蛋白的异染色质关联模式。通过使用PML染色质免疫沉淀和测序数据,并比较用于描绘PML染色质关联的计算方法,我们将PML相关结构域(PADs)描述为在癌细胞系中呈现相似基因组特征的大型异染色质区域。我们表明,PADs在非编码基因、重复基因簇和重复DNA元件中特异性富集。此外,我们发现了锌指蛋白(KZFPs)的富集结合基序,这些基序参与在重复DNA元件处协调表观遗传抑制。因此,我们的研究结果表明,PML在癌症中保守地与富含重复DNA元件和重复基因簇的异染色质结构域相关联。这些发现有助于更广泛地理解癌症中异染色质对基因组组织的复杂调控框架。