Parental imprinting is an epigenetic process leading to monoallelic expression of certain genes depending on their parental origin. Imprinting diseases are characterized by growth and metabolic issues starting from birth to adulthood. They are mainly due to methylation defects in imprinting control region that drive the abnormal expression of imprinted genes. We currently lack relevant animal or cellular models to unravel the pathophysiology of growth failure in these diseases. We aimed to characterize the methylation of imprinting regions in dental pulp stem cells and during their differentiation in osteogenic cells (involved in growth regulation) to assess the interest of this cells in modeling imprinting diseases. We collected dental pulp stem cells from five controls and four patients (three with Silver-Russell syndrome and one with Beckwith-Wiedemann syndrome). Methylation analysis of imprinting control regions involved in these syndromes showed a normal profile in controls and the imprinting defect in patients. These results were maintained in dental pulp stem cells cultured under osteogenic conditions. Furthermore, we confirmed the same pattern in six other loci involved in imprinting diseases in humans. We also confirmed monoallelic expression of H19 (an imprinted gene) in controls and its biallelic expression in one patient. Extensive imprinting control regions methylation analysis shows the strong potential of dental pulp stem cells in modeling imprinting diseases, in which imprinting regions are preserved in culture and during osteogenic differentiation. This will allow to perform in vitro functional and therapeutic tests in cells derived from dental pulp stem cells and generate other cell-types.

亲本印记是一种表观遗传过程，导致某些基因的单等位基因表达取决于其亲本起源。印记疾病的特征是从出生到成年的生长和代谢问题。它们主要是由于印迹控制区的甲基化缺陷导致印迹基因的异常表达。我们目前缺乏相关的动物或细胞模型来揭示这些疾病中生长失败的病理生理学。我们旨在表征牙髓干细胞中印记区域的甲基化以及它们在成骨细胞（参与生长调节）中的分化过程，以评估这些细胞对印记疾病建模的兴趣。我们从五名对照和四名患者（三名患有 Silver-Russell 综合征和一名患有 Beckwith-Wiedemann 综合征）收集了牙髓干细胞。涉及这些综合征的印迹控制区域的甲基化分析显示对照组的正常轮廓和患者的印迹缺陷。这些结果在成骨条件下培养的牙髓干细胞中得以维持。此外，我们在其他六个与人类印记疾病有关的基因座中证实了相同的模式。我们还证实了单等位基因表达 我们在其他六个与人类印记疾病有关的基因座中证实了相同的模式。我们还证实了单等位基因表达 我们在其他六个与人类印记疾病有关的基因座中证实了相同的模式。我们还证实了单等位基因表达对照中的H19（印记基因）及其在一名患者中的双等位基因表达。广泛的印迹控制区域甲基化分析显示牙髓干细胞在模拟印迹疾病中的强大潜力，其中印迹区域在培养和成骨分化过程中被保留。这将允许在源自牙髓干细胞的细胞中进行体外功能和治疗测试，并产生其他细胞类型。