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Differential Distribution of Human Mitochondrial DNA in Somatic Tissues and Hairs

Authors
 Hwan Young Lee  ;  Ukhee Chung  ;  Myung Jin Park  ;  Ji-Eun Yoo  ;  Gil-Ro Han  ;  Kyoung-Jin Shin 
Citation
 ANNALS OF HUMAN GENETICS, Vol.70(1) : 59-65, 2006 
Journal Title
ANNALS OF HUMAN GENETICS
ISSN
 0003-4800 
Issue Date
2006
MeSH
Age Factors ; Base Sequence/genetics* ; Brain Chemistry ; DNA Primers ; DNA, Mitochondrial/blood ; DNA, Mitochondrial/genetics* ; Electrophoresis, Capillary ; Genetic Variation* ; Genotype ; Hair/chemistry* ; Humans ; Liver/chemistry ; Muscle, Skeletal/chemistry ; Myocardium/chemistry ; Polymerase Chain Reaction ; Sequence Analysis, DNA
Keywords
mitochondrial DNA ; somatic distribution ; hypervariable region 2 ; length heteroplasmy ; mutagenic primer
Abstract
To investigate mitochondrial DNA (mtDNA) distribution within tissues during life, we observed length heteroplasmy in a polycytosine tract of the mitochondrial HV2 region by size-based separation of PCR products, using a mutagenic primer which was designed to avoid stutter production. Blood, brain, heart, liver, skeletal muscle and hair shaft samples were collected during autopsies of 25 individuals. Here, we demonstrate differences in the level of mtDNA length heteroplasmy both within and between individuals and tissues. We also show that mtDNA is distributed randomly in varying proportions in various somatic tissues during growth, resulting in an imbalance in the composition of mtDNA pools among tissues. This mtDNA distribution appears not to be strictly random, and can be explained by the random somatic segregation of nucleoids. On the other hand, significant qualitative/quantitative mtDNA peak pattern variations in hair shafts are thought to be a result of the different developmental origins of hairs. Each hair shaft may have a restricted or clonal set of mtDNA molecules derived from a discrete group of stem cells.
Full Text
http://onlinelibrary.wiley.com/doi/10.1111/j.1529-8817.2005.00217.x/abstract
DOI
10.1111/j.1529-8817.2005.00217.x
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Forensic Medicine (법의학과) > 1. Journal Papers
Yonsei Authors
Park, Myung Jin(박명진)
Shin, Kyoung Jin(신경진) ORCID logo https://orcid.org/0000-0002-1059-9665
Yoo, Ji Eun(유지은)
Lee, Hwan Young(이환영)
Chung, Uk Hee(정욱희)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/111029
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