Expression analysis of endogenous menin, the product of the multiple endocrine neoplasia type 1 gene, in cell lines and human tissues

摘要: We have investigated the endogenous expression of menin, a protein encoded by gene mutated in multiple endocrine neoplasia type 1 (MEN1). Western blot analysis showed strong menin as 68 kDa all 7 human and primate cell lines tested. In panel 12 fetal tissue extracts, was readily detected brain cortex, kidney, pituitary, testis thymus weakly thyroid. Reproducible bands other than were observed adrenal heart, whereas undetectable liver, lung, pancreas skin. Analysis synchronized HeLa cells revealed no variation amount or size throughout cycle. Protein compared between lymphoblastoid from healthy controls MEN1 patients carrying nonsense mutations on allele. No truncated either cytoplasmic nuclear fractions mutation-carrying cells. The level cellular location full-length did not differ derived donors. This suggests that wild-type allele has been up-regulated to compensate for loss functional