The Von Hippel-Lindau (VHL) Gene

906 Words Feb 3rd, 2018 4 Pages
(1). The gene was identified in an attempt to determine the driver of tumorigenesis in Von Hippel-Lindau Disease. VHL disease is an autosomal dominant hereditary cancer syndrome that is characterized by tumor and cyst formation throughout the body, with those infected especially predisposed to hemangioblastomas of the central nervous system, eyes, pancreas, and kidney. Latif, et al. were able to match the gene region to chromosome 3p.25-26 by positional cloning and created a map of the region using pulsed-field gel electrophoresis in order to isolate the prospective genes. The DNA of 221 VHL patients was then probed using specified plasmids to determine that there were 28 rearrangements present, with three large non-overlapping deletions detected in the hypothesized VHL gene segment. This sequence was conserved across different species, with implications of its necessity for normal cellular function, pointing to its role as a tumor suppressor. Since part of the sequence of the protein product (pVHL) also matched (48%) to that of a surface membrane protein sequence in Trypanosoma brucei, pVHL is thought to have some role in signal transduction or cell adhesion as well.
The VHL gene itself is made of three exon segments located on chromosome 3p25. Patients with VHL syndrome are heterozygotes of the VHL gene, with one allele that is a mutated or inactivated copy of the…

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