The acquisition of an inheritable 50-bp deletion in the human mtDNA control region does not affect the mtDNA copy number in peripheral blood cells

Authors

  • Rui Bi,

    1. Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, People's Republic of China
    2. Graduate School of the Chinese Academy of Sciences, Beijing 100039, People's Republic of China
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  • A-Mei Zhang,

    1. Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, People's Republic of China
    2. Graduate School of the Chinese Academy of Sciences, Beijing 100039, People's Republic of China
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  • Wen Zhang,

    1. Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, People's Republic of China
    2. Graduate School of the Chinese Academy of Sciences, Beijing 100039, People's Republic of China
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  • Qing-Peng Kong,

    1. State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, People's Republic of China
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  • Bei-Ling Wu,

    1. Department of Dermatology, the First Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou 310006, People's Republic of China
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  • Xiao-Hong Yang,

    1. Department of Dermatology, the First Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou 310006, People's Republic of China
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  • Dong Wang,

    1. Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, People's Republic of China
    2. Graduate School of the Chinese Academy of Sciences, Beijing 100039, People's Republic of China
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  • Yang Zou,

    1. Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, People's Republic of China
    2. Graduate School of the Chinese Academy of Sciences, Beijing 100039, People's Republic of China
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  • Ya-Ping Zhang,

    1. State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, People's Republic of China
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  • Yong-Gang Yao

    Corresponding author
    1. Key Laboratory of Animal Models and Human Disease Mechanisms of Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, People's Republic of China
    • Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, 650223 P.R. China
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  • Communicated by Henrik Dahl

Abstract

The mitochondrial DNA (mtDNA) control region is believed to play an important biological role in mtDNA replication. Large deletions in this region are rarely found, but when they do occur they might be expected to interfere with the replication of the molecule, thus leading to a reduction of mtDNA copy number. During a survey for mtDNA sequence variations in 5,559 individuals from the general Chinese population and 2,538 individuals with medical disorders, we identified a 50-bp deletion (m.298_347del50) in the mtDNA control region in a member of a healthy Han Chinese family belonging to haplogroup B4c1b2, as suggested by complete mtDNA genome sequencing. This deletion removes the conserved sequence block II (CSBII; region 299–315) and the replication primer location (region 317–321). However, quantification of the mtDNA copy number in this subject showed a value within a range that was observed in 20 healthy subjects without the deletion. The deletion was detected in the hair samples of the maternal relatives of the subject and exhibited variable heteroplasmy. Our current observation, together with a recent report for a benign 154-bp deletion in the mtDNA control region, suggests that the control of mtDNA replication may be more complex than we had thought. Hum Mutat 31:1–6, 2010. © 2010 Wiley-Liss, Inc.

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