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Novel mitochondrial DNA deletion found in a renal cell carcinoma
Author(s) -
Horton Terzah M.,
Petros John A.,
Heddi Abdelaziz,
Shoffner John,
Kaufman Allan E.,
Graham Sam D.,
Gramlich Terry,
Wallace Douglas C.
Publication year - 1996
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/(sici)1098-2264(199602)15:2<95::aid-gcc3>3.0.co;2-z
Subject(s) - ecorv , mitochondrial dna , microbiology and biotechnology , biology , polymerase chain reaction , dna , renal cell carcinoma , kidney , gene , genetics , pathology , restriction fragment length polymorphism , medicine
Polymerase chain reaction (PCR) was used to analyze a rarely deleted region of mitochondrial DNA (mtDNA) from 39 human renal cell carcinomas (RCC) and matched normal kidney tissue removed during radical nephrectomy. One tumor specimen (E.R.) had a unique PCR product approximately 250 base pairs (bp) smaller than the PCR product found in the normal E.R. kidney. Sequence analysis of the tumor‐specific PCR fragment revealed a 264 bp deletion in the first subunit ( NDI ) of NADH:ubiquinone oxidoreductase (complex I) of the electron transport chain. Southern analysis of the RCCs demonstrated that approximately 50% of the mtDNA molecules in the primary RCC contained a unique 3.2 kb Eco RV restriction fragment found only in E.R. tumor mtDNA. Northern analysis demonstrated preferential transcription of the truncated NDI mRNA. None of the five metastases or any normal tissue from E.R. contained levels of the NDI deletion detectable by PCR. This is the first reported case of an intragenic NDI mtDNA deletion. Genes Chromosom Cancer 15:95–101 (1996). © 1996 Wiley‐Liss, Inc.