Mice deleted for Cell division cycle 73 gene develop parathyroid and uterine tumours: model for the Hyperparathyroidism-Jaw Tumour Syndrome

Autor: Walls, G, Stevenson, M, Lines, K, Newey, P, Reed, A, Bowl, M, Jeyabalan, J, Harding, B, Bradley, K, Manek, S, Chen, J, Wang, P, Williams, B, Teh, B, Thakker, R
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: Oncogene.
ISSN: 1476-5594
0950-9232
Popis: The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disorder characterized by occurrence of parathyroid tumours, often atypical adenomas and carcinomas, ossifying jaw fibromas, renal tumours and uterine benign and malignant neoplasms. HPT-JT is caused by mutations of the cell division cycle 73 (CDC73) gene, located on chromosome 1q31.2 and encodes a 531 amino acid protein, parafibromin. To facilitate in vivo studies of Cdc73 in tumourigenesis we generated conventional (Cdc73+/−) and conditional parathyroid-specific (Cdc73+/L/PTH-Cre and Cdc73L/L/PTH-Cre) mouse models. Mice were aged to 18-21 months and studied for survival, tumour development and proliferation, and serum biochemistry, and compared to age-matched wild-type (Cdc73+/+ and Cdc73+/+/PTH-Cre) littermates. Survival of Cdc73+/− mice, when compared to Cdc73+/+ mice was reduced (Cdc73+/−=80%; Cdc73+/+=90% at 18 months of age, Pfourfold higher than that in parathyroid glands of wild-type littermates (P
Databáze: OpenAIRE
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