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Frequent Occurrence of Mitochondrial Microsatellite Instability in the D‐Loop Region of Human Cancers
Author(s) -
WANG YUE,
LIU VINCENT W.S.,
NGAN HEXTAN Y.S.,
NAGLEY PHILLIP
Publication year - 2005
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1338.012
Subject(s) - microsatellite instability , mitochondrial dna , microsatellite , d loop , biology , genetics , endometrial cancer , genome instability , genome , gene , cancer , microbiology and biotechnology , dna , dna damage , allele
A bstract : We analyzed the occurrence of mitochondrial microsatellite instability (mtMSI) in 262 pairs of female cancer tissues with the matched normal controls. mtMSI was detected in only 4 of 12 microsatellites found in the mitochondrial genome (3 in the D‐loop and 1 in the 12S rRNA gene). Interestingly, 95.6% (87/91) of mtMSI was detected in the D‐loop, namely, at nucleotide positions 303‐315, 514‐523, and 16184‐16193. This demonstrates that the D‐loop is a hotspot for mtMSI. Different incidences of mtMSI at these three microsatellites were found in the four cancer types (including cervical, endometrial, ovarian, and breast). Together with those mtMSI reported in other studies, the differential occurrence of mtMSI at each of the markers in the D‐loop region was observed, indicating that the extent of mtMSI varies from one cancer to another. Although the mechanisms of generation and functional impact of mtMSI are still not clear, the high incidence of mtMSI in the D‐loop and its broad distribution in human cancers render it a potential marker for cancer detection.