Analysis of the structural integrity of the TAP2 gene in renal cell carcinoma

Isabelle Hodson1, Michaela Bock, Ulrike Ritz

  • 1Third Department of Internal Medicine, Johannes Gutenberg University, Mainz, Germany.

The transporter associated with antigen processing (TAP) gene products is involved in the processing of endogenous peptides that bind to MHC class I molecules. Mutations and/or polymorphism within these genes could alter the efficacy of the immune response which might be relevant for the development of autoimmune diseases and cancer. In this study we examined both the structural integrity and the polymorphism of TAP2 in renal cell carcinoma lesions by sequencing TAP2 in renal cell carcinoma lesions and autologous normal kidney epithelium. TAP2 sequence analysis of 31 renal cell carcinoma lesions, one oncocytoma and respective autologous normal kidney epithelium revealed no mutation in the TAP2 gene, whereas a TAP2 polymorphism was detected at position -36 up-stream of the ATG. This polymorphism is heterozygous in about 66% of the lesions analyzed. In addition, heterozygosity at base pair position 1797 downstream of the ATG was found, which did not affect the amino acid composition. The distribution of the TAP2 alleles analyzed in the different lesions demonstrated a 48.4% homozygosity of the tumors regarding different N-SNPs. Most of the known S-SNPs showed 61.3% heterozygosity independent of a particular allele. Thus, TAP2 gene polymorphism is not linked to renal cell carcinoma since no association between a particular amino acid residue and the disease was found.

Related Concept Videos

mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...