Porzionato Andrea, Macchi Veronica, Barzon Luisa, Masi Giulia, Iacobone Maurizio, Parenti Anna, Palù Giorgio, De Caro Raffaele
Section of Anatomy, Department of Human Anatomy and Physiology, University of Padova, Italy.
J Anat. 2006 Dec;209(6):817-27. doi: 10.1111/j.1469-7580.2006.00657.x.
Parafibromin is a protein encoded by the HRPT2 oncosuppressor gene, whose mutation causes the hyperparathyroidism-jaw tumour syndrome, characterized by the occurrence of parathyroid adenoma or carcinoma, fibro-osseous jaw tumours, and renal neoplastic and non-neoplastic abnormalities. Non-morphological techniques, such as Northern and Western blotting and reverse transcriptase-PCR, indicate that parafibromin is ubiquitously expressed, but extensive immunohistochemical studies have not been performed. To increase our knowledge of the distribution and patterns of expression of parafibromin, we examined its expression and location in many different mouse and human organs by immunohistochemistry. There were no substantial differences in parafibromin expression between mouse and human. We found widespread expression of parafibromin, except in connective tissue, smooth muscle, endothelium and some other types of epithelia (colonic, urinary, tubaric, uterine, thyroid). Heterogeneity of positivity intensity and subcellular location (nuclear, nucleocytoplasmic, cytoplasmic) was found between tissues and cell types, suggesting differential functional involvement of parafibromin. Moreover, higher parafibromin expression was found in cell types, such as hepatocytes, cells of the base of gastric glands, renal cortex tubules and the pars intermedia of the hypophysis, which are characterized by different proliferative capacity, thus indicating that the cellular function of parafibromin may not be reduced only to its anti-proliferative effect.
parafibromin是一种由肿瘤抑制基因HRPT2编码的蛋白质,其突变会导致甲状旁腺功能亢进-颌骨肿瘤综合征,其特征是发生甲状旁腺腺瘤或癌、纤维性骨化性颌骨肿瘤以及肾脏肿瘤性和非肿瘤性异常。非形态学技术,如Northern和Western印迹法以及逆转录酶-PCR,表明parafibromin在全身广泛表达,但尚未进行广泛的免疫组织化学研究。为了增加我们对parafibromin分布和表达模式的了解,我们通过免疫组织化学检查了它在许多不同的小鼠和人类器官中的表达和定位。小鼠和人类之间parafibromin的表达没有实质性差异。我们发现parafibromin广泛表达,除了在结缔组织、平滑肌、内皮和其他一些上皮类型(结肠、泌尿、肾小管、子宫、甲状腺)中。在组织和细胞类型之间发现了阳性强度和亚细胞定位(核、核质、细胞质)的异质性,这表明parafibromin的功能参与存在差异。此外,在具有不同增殖能力的细胞类型中发现了较高的parafibromin表达,如肝细胞、胃腺底部细胞、肾皮质肾小管和垂体中间部细胞,这表明parafibromin的细胞功能可能不仅限于其抗增殖作用。