Tandem duplication/triplication correlated with poly-cytosine stretch variation in human mitochondrial DNA D-loop region

Wen Yi Hung, Jin Ching Lin, Liang Ming Lee, Chew Wun Wu, Ling Ming Tseng, Pen Hui Yin, Chin Wen Chi, Hsin Chen Lee

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Somatic mutations in the mitochondrial DNA (mtDNA) displacement loop (D-loop) region have been frequently detected in various human cancers. In a previous study, we identified a polyplasmic 260-bp tandem duplication and triplication mutation in the mtDNA D-loop of one gastric cancer. In the present study, we adopted a more sensitive back-to-back polymerase chain reaction method to screen for this 260-bp tandem duplication/triplication in 197 cancers and their adjacent non-cancerous tissues. Nine samples of primary cancer (4.6%) were found to harbor the tandem duplication/triplication and these were made up of four out of 31 (12.9%) gastric cancers, two out of 45 (4.4%) breast cancers, two out of 56 (3.6%) hepatocellular cancers and one out of 32 (3.1%) colon cancers, but no tandem duplication/triplication was present in any of 33 lung cancers. We also found an expanded and polyplasmic poly-cytosine (poly-C) stretch around nucleotide position (np) 568 in eight of the 197 (4.1%) cancer patients. All the eight cancer samples carried the 260-bp tandem duplication/triplication. In addition, we detected the np 568 poly-C length variations in 11 of 234 (4.7%) peripheral blood samples of non-cancer population and the 260-bp tandem duplication in nine of the 11 cases with the np 568 poly-C length variations. These observations suggest that the occurrence of the tandem duplication/triplication in mtDNA D-loop is not specific for cancer tissues, but highly associated with the poly-C length variations around np 568.

Original languageEnglish
Pages (from-to)137-142
Number of pages6
JournalMutagenesis
Volume23
Issue number2
DOIs
Publication statusPublished - Mar 2008

Fingerprint

Cytosine
Mitochondrial DNA
Nucleotides
Neoplasms
Tissue
Stomach Neoplasms
Polymerase chain reaction
Ports and harbors
Mutation
Blood
Liver Neoplasms
Colonic Neoplasms
Lung Neoplasms
Breast Neoplasms
Polymerase Chain Reaction
Population

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Toxicology
  • Health, Toxicology and Mutagenesis

Cite this

Hung, W. Y., Lin, J. C., Lee, L. M., Wu, C. W., Tseng, L. M., Yin, P. H., ... Lee, H. C. (2008). Tandem duplication/triplication correlated with poly-cytosine stretch variation in human mitochondrial DNA D-loop region. Mutagenesis, 23(2), 137-142. https://doi.org/10.1093/mutage/gen002

Tandem duplication/triplication correlated with poly-cytosine stretch variation in human mitochondrial DNA D-loop region. / Hung, Wen Yi; Lin, Jin Ching; Lee, Liang Ming; Wu, Chew Wun; Tseng, Ling Ming; Yin, Pen Hui; Chi, Chin Wen; Lee, Hsin Chen.

In: Mutagenesis, Vol. 23, No. 2, 03.2008, p. 137-142.

Research output: Contribution to journalArticle

Hung, WY, Lin, JC, Lee, LM, Wu, CW, Tseng, LM, Yin, PH, Chi, CW & Lee, HC 2008, 'Tandem duplication/triplication correlated with poly-cytosine stretch variation in human mitochondrial DNA D-loop region', Mutagenesis, vol. 23, no. 2, pp. 137-142. https://doi.org/10.1093/mutage/gen002
Hung, Wen Yi ; Lin, Jin Ching ; Lee, Liang Ming ; Wu, Chew Wun ; Tseng, Ling Ming ; Yin, Pen Hui ; Chi, Chin Wen ; Lee, Hsin Chen. / Tandem duplication/triplication correlated with poly-cytosine stretch variation in human mitochondrial DNA D-loop region. In: Mutagenesis. 2008 ; Vol. 23, No. 2. pp. 137-142.
@article{2a9bdd845d9b498889ef526a93ad0260,
title = "Tandem duplication/triplication correlated with poly-cytosine stretch variation in human mitochondrial DNA D-loop region",
abstract = "Somatic mutations in the mitochondrial DNA (mtDNA) displacement loop (D-loop) region have been frequently detected in various human cancers. In a previous study, we identified a polyplasmic 260-bp tandem duplication and triplication mutation in the mtDNA D-loop of one gastric cancer. In the present study, we adopted a more sensitive back-to-back polymerase chain reaction method to screen for this 260-bp tandem duplication/triplication in 197 cancers and their adjacent non-cancerous tissues. Nine samples of primary cancer (4.6{\%}) were found to harbor the tandem duplication/triplication and these were made up of four out of 31 (12.9{\%}) gastric cancers, two out of 45 (4.4{\%}) breast cancers, two out of 56 (3.6{\%}) hepatocellular cancers and one out of 32 (3.1{\%}) colon cancers, but no tandem duplication/triplication was present in any of 33 lung cancers. We also found an expanded and polyplasmic poly-cytosine (poly-C) stretch around nucleotide position (np) 568 in eight of the 197 (4.1{\%}) cancer patients. All the eight cancer samples carried the 260-bp tandem duplication/triplication. In addition, we detected the np 568 poly-C length variations in 11 of 234 (4.7{\%}) peripheral blood samples of non-cancer population and the 260-bp tandem duplication in nine of the 11 cases with the np 568 poly-C length variations. These observations suggest that the occurrence of the tandem duplication/triplication in mtDNA D-loop is not specific for cancer tissues, but highly associated with the poly-C length variations around np 568.",
author = "Hung, {Wen Yi} and Lin, {Jin Ching} and Lee, {Liang Ming} and Wu, {Chew Wun} and Tseng, {Ling Ming} and Yin, {Pen Hui} and Chi, {Chin Wen} and Lee, {Hsin Chen}",
year = "2008",
month = "3",
doi = "10.1093/mutage/gen002",
language = "English",
volume = "23",
pages = "137--142",
journal = "Mutagenesis",
issn = "0267-8357",
publisher = "Oxford University Press",
number = "2",

}

TY - JOUR

T1 - Tandem duplication/triplication correlated with poly-cytosine stretch variation in human mitochondrial DNA D-loop region

AU - Hung, Wen Yi

AU - Lin, Jin Ching

AU - Lee, Liang Ming

AU - Wu, Chew Wun

AU - Tseng, Ling Ming

AU - Yin, Pen Hui

AU - Chi, Chin Wen

AU - Lee, Hsin Chen

PY - 2008/3

Y1 - 2008/3

N2 - Somatic mutations in the mitochondrial DNA (mtDNA) displacement loop (D-loop) region have been frequently detected in various human cancers. In a previous study, we identified a polyplasmic 260-bp tandem duplication and triplication mutation in the mtDNA D-loop of one gastric cancer. In the present study, we adopted a more sensitive back-to-back polymerase chain reaction method to screen for this 260-bp tandem duplication/triplication in 197 cancers and their adjacent non-cancerous tissues. Nine samples of primary cancer (4.6%) were found to harbor the tandem duplication/triplication and these were made up of four out of 31 (12.9%) gastric cancers, two out of 45 (4.4%) breast cancers, two out of 56 (3.6%) hepatocellular cancers and one out of 32 (3.1%) colon cancers, but no tandem duplication/triplication was present in any of 33 lung cancers. We also found an expanded and polyplasmic poly-cytosine (poly-C) stretch around nucleotide position (np) 568 in eight of the 197 (4.1%) cancer patients. All the eight cancer samples carried the 260-bp tandem duplication/triplication. In addition, we detected the np 568 poly-C length variations in 11 of 234 (4.7%) peripheral blood samples of non-cancer population and the 260-bp tandem duplication in nine of the 11 cases with the np 568 poly-C length variations. These observations suggest that the occurrence of the tandem duplication/triplication in mtDNA D-loop is not specific for cancer tissues, but highly associated with the poly-C length variations around np 568.

AB - Somatic mutations in the mitochondrial DNA (mtDNA) displacement loop (D-loop) region have been frequently detected in various human cancers. In a previous study, we identified a polyplasmic 260-bp tandem duplication and triplication mutation in the mtDNA D-loop of one gastric cancer. In the present study, we adopted a more sensitive back-to-back polymerase chain reaction method to screen for this 260-bp tandem duplication/triplication in 197 cancers and their adjacent non-cancerous tissues. Nine samples of primary cancer (4.6%) were found to harbor the tandem duplication/triplication and these were made up of four out of 31 (12.9%) gastric cancers, two out of 45 (4.4%) breast cancers, two out of 56 (3.6%) hepatocellular cancers and one out of 32 (3.1%) colon cancers, but no tandem duplication/triplication was present in any of 33 lung cancers. We also found an expanded and polyplasmic poly-cytosine (poly-C) stretch around nucleotide position (np) 568 in eight of the 197 (4.1%) cancer patients. All the eight cancer samples carried the 260-bp tandem duplication/triplication. In addition, we detected the np 568 poly-C length variations in 11 of 234 (4.7%) peripheral blood samples of non-cancer population and the 260-bp tandem duplication in nine of the 11 cases with the np 568 poly-C length variations. These observations suggest that the occurrence of the tandem duplication/triplication in mtDNA D-loop is not specific for cancer tissues, but highly associated with the poly-C length variations around np 568.

UR - http://www.scopus.com/inward/record.url?scp=41449085168&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=41449085168&partnerID=8YFLogxK

U2 - 10.1093/mutage/gen002

DO - 10.1093/mutage/gen002

M3 - Article

C2 - 18252697

AN - SCOPUS:41449085168

VL - 23

SP - 137

EP - 142

JO - Mutagenesis

JF - Mutagenesis

SN - 0267-8357

IS - 2

ER -