Comparative expression profiling of wild type Drosophila Malpighian tubules and von Hippel-Lindau haploinsufficient mutant

Abstract

The von-Hippel Lindau (VHL) disease is a hereditary genetic disorder that predisposes to the onset of several highly vascularized benign and malignant tumors, developing with elevate frequency in the central nervous system and kidneys. The most-aggressive VHL tumor is ccRCC, the clear-cell renal cell carcinoma, affecting the kidney. VHL disease etiology can be attributed to the inheritance of a VHL loss-of-function allele, typically a deletion (Gnarra et al., 1994; Herman et al., 1994); this facilitates the somatic inactivation of the other allele (through amorphic mutations or gene silencing through promoter methylation), leading to the onset of the tumorous phenotype (Latif et al., 1993). This reveals the haploinsufficient behavior of the VHL gene.