Dipartimento di Scienze Della Salute, San Paolo Hospital Medical School, Università degli Studi di Milano, 20142 Milan, Italy.
Clinica Pediatrica, Dipartimento di Medicina e Chirurgia, Università di Milano-Bicocca Ospedale San Gerardo/Fondazione MBBM, 20900 Monza, Italy.
Int J Mol Sci. 2018 Feb 1;19(2):438. doi: 10.3390/ijms19020438.
Cohesin complex components exert fundamental roles in animal cells, both canonical in cell cycle and non-canonical in gene expression regulation. Germline mutations in genes coding for cohesins result in developmental disorders named cohesinopaties, of which Cornelia de Lange syndrome (CdLS) is the best-known entity. However, a basic description of mammalian expression pattern of cohesins in a physiologic condition is still needed. Hence, we report a detailed analysis of expression in murine and human tissues of cohesin genes defective in CdLS. Using both quantitative and qualitative methods in fetal and adult tissues, cohesin genes were found to be ubiquitously and differentially expressed in human tissues. In particular, abundant expression was observed in hematopoietic and central nervous system organs. Findings of the present study indicate tissues which should be particularly sensitive to mutations, germline and/or somatic, in cohesin genes. Hence, this expression analysis in physiological conditions may represent a first core reference for cohesinopathies.
黏合蛋白复合物成分在动物细胞中发挥着基本作用，既有细胞周期中的经典作用，也有基因表达调控中的非经典作用。编码黏合蛋白的基因发生种系突变会导致发育障碍，称为黏合蛋白病，其中Cornelia de Lange 综合征（CdLS）是最著名的实体。然而，仍然需要对生理条件下哺乳动物黏合蛋白的表达模式进行基本描述。因此，我们报告了对 CdLS 中黏合蛋白基因缺陷的鼠和人组织中表达的详细分析。在胎儿和成人组织中使用定量和定性方法，发现黏合蛋白基因在人类组织中广泛且差异表达。特别是在造血和中枢神经系统器官中观察到丰富的表达。本研究的结果表明，组织应该对黏合蛋白基因的种系和/或体细胞突变特别敏感。因此，这种在生理条件下的表达分析可能是黏合蛋白病的第一个核心参考。
