The effect of a germline mutation in the APC gene on β-catenin in human embryonic stem cells.

ABSTRACT:

Background

Most cases of colorectal cancer (CRC) are initiated by inactivation mutations in the APC gene, which is a negative regulator of the Wnt-β-catenin pathway. Patients with familial adenomatous polyposis (FAP) inherit a germline mutation in one APC allele, and loss of the second allele leads to the development of polyps that will turn malignant if not removed. It is not fully understood which molecular mechanisms are activated by APC loss and when the loss of the second APC allele occurs.

Methods

Two FAP human embryonic stem cell (hESCs) lines were derived from APC mutated embryos following pre-implantation genetic diagnosis (PGD) for FAP. These FAP-hESCs were cultured in vitro and following extended culture: 1) β-catenin expression was analyzed by Western blot analys

SUBMITTER: Yedid N 

PROVIDER: S-EPMC5180406 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature