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Article

Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region.

Molecular and cellular biology - 1 Mar 1991

Moraes C T, Andreetta F, Bonilla E, Shanske S, DiMauro S, Schon E A

Abstract excerpt

We identified two patients with progressive external ophthalmoplegia, a mitochondrial disease, who harbored a population of partially deleted mitochondrial DNA (mtDNA) with unusual properties. These molecules were deleted from mtDNA positions 548 to 4,442 and encompassed not only rRNA sequences but the heavy-strand promoter region as well. A 13-bp direct repeat was found flanking the breakpoint precisely, with...

Topics

Base Sequence
DNA Replication
DNA, Mitochondrial
Gene Expression
Humans
Molecular Sequence Data
Mutation
Oligonucleotides
Ophthalmoplegia
Polymerase Chain Reaction
Promoter Regions, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Repetitive Sequences, Nucleic Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 1996112
DOI: 10.1128/mcb.11.3.1631-1637.1991
PMCID: PMC369459

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1996112-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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