Functional and structural features of a tandem duplication of the human mtDNA promoter region

Huiling Hao, Giovanni Manfredi, Carlos T. Moraes

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13 Scopus citations


An ~260-bp tandem duplication of the human mtDNA regulatory region has been identified in patients with mitochondrial disorders and in a specific Caucasian haplogroup. The functional significance of this mtDNA duplication was difficult to assess, because it was present at very low levels in human tissues. We have isolated several transmitochondrial cybrid lines harboring this mutation, one of which (clone CA17.1) was essentially homoplasmic for the duplication. Oxidative-phosphorylation function was not impaired in clone CA17.1, suggesting that this mtDNA alteration is not pathogenic. mtDNA copy number and steady-state levels of heavy- and light-strand transcripts were unaltered in done CA 17.1. The steady-state levels of RNAs made from the two promoters (either from the heavy-strand or from the light-strand) were also similar, indicating that oppositely oriented promoters did not interfere with each other.

Original languageEnglish (US)
Pages (from-to)1363-1372
Number of pages10
JournalAmerican journal of human genetics
Issue number6
StatePublished - Jun 1997

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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