Expression of the PTEN tumour suppressor protein during human development
- PMID: 10861290
- DOI: 10.1093/hmg/9.11.1633
Expression of the PTEN tumour suppressor protein during human development
Abstract
The tumour suppressor gene PTEN, localized to 10q23.3, is the susceptibility gene for Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba (BRR) syndrome, two hamartoma syndromes with an increased risk of breast and thyroid tumours. Somatic mutations have been found in a variety of human tumours. Functional studies have revealed that PTEN plays a fundamental role in cellular growth, death, adhesion and migration. RNA in situ hybridization using the pten coding region in mouse embryos showed ubiquitous transcription, providing evidence that pten could play a versatile role throughout murine development. Nothing is known regarding the pattern of PTEN expression during human development. Here, we present the pattern of PTEN expression during human development using a specific monoclonal antibody and examine the relationship of the temporal and spatial expression pattern to the clinical manifestations of CS and BRR, the somatic genetic data in sporadic cancers, the murine knockout models and the RNA expression data in mouse embryos. We observed mainly high-level PTEN expression in tissues (e.g. skin, thyroid and central nervous system) known to be involved in CS and BRR. In addition, we identified tissues (e.g. peripheral nervous system, autonomomic nervous system and upper gastrointestinal tract) with high PTEN expression not commonly known to play a role in these syndromes nor in sporadic tumorigenesis in those organs. This knowledge may help in identifying roles for PTEN which, as of today, are unknown or even unsuspected.
Similar articles
-
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.Hum Mol Genet. 1999 Aug;8(8):1461-72. doi: 10.1093/hmg/8.8.1461. Hum Mol Genet. 1999. PMID: 10400993
-
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.Hum Mol Genet. 1998 Mar;7(3):507-15. doi: 10.1093/hmg/7.3.507. Hum Mol Genet. 1998. PMID: 9467011
-
The role of PTEN, a phosphatase gene, in inherited and sporadic nonmedullary thyroid tumors.Recent Prog Horm Res. 1999;54:441-52; discussion 453. Recent Prog Horm Res. 1999. PMID: 10548886 Review.
-
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.Am J Med Genet. 1997 Sep 5;71(4):489-93. Am J Med Genet. 1997. PMID: 9286463
-
PTEN: one gene, many syndromes.Hum Mutat. 2003 Sep;22(3):183-98. doi: 10.1002/humu.10257. Hum Mutat. 2003. PMID: 12938083 Review.
Cited by
-
ATM-mediated PTEN phosphorylation promotes PTEN nuclear translocation and autophagy in response to DNA-damaging agents in cancer cells.Autophagy. 2015;11(2):239-52. doi: 10.1080/15548627.2015.1009767. Autophagy. 2015. PMID: 25701194 Free PMC article.
-
PI3K-AKT-mTOR-signaling and beyond: the complex network in gastroenteropancreatic neuroendocrine neoplasms.Theranostics. 2014 Jan 29;4(4):336-65. doi: 10.7150/thno.7851. eCollection 2014. Theranostics. 2014. PMID: 24578720 Free PMC article. Review.
-
The cellular regulators PTEN and BMI1 help mediate NEUROGENIN-3-induced cell cycle arrest.J Biol Chem. 2019 Oct 11;294(41):15182-15192. doi: 10.1074/jbc.RA119.008926. Epub 2019 Jul 24. J Biol Chem. 2019. PMID: 31341016 Free PMC article.
-
Thyroid Cancer and Circadian Clock Disruption.Cancers (Basel). 2020 Oct 24;12(11):3109. doi: 10.3390/cancers12113109. Cancers (Basel). 2020. PMID: 33114365 Free PMC article. Review.
-
Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes.J Clin Endocrinol Metab. 2012 Dec;97(12):E2320-7. doi: 10.1210/jc.2012-2944. Epub 2012 Oct 12. J Clin Endocrinol Metab. 2012. PMID: 23066114 Free PMC article.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Research Materials
