The molecular mechanisms by which the nuclear genome regulates the biosynthesis of mitochondrial DNA (mtDNA) are only beginning to be unravelled. A naturally occurring in vivo model for a defect in this cross–talk of two physically separate genomes is a human disease, an autosomal dominant progressive external ophthalmoplegia, in which multiple deletions of mtDNA accumulate in the patients' tissues. The assignment of this disease locus to 10q 23.3–24.3 is the first direct evidence for involvement of both nuclear and mitochondrial genomes in a single disorder. © 1991 Nature Publishing Group.

An autosomal locus predisposing to deletions of mitochondrial DNA

Zeviani M.;
1995

Abstract

The molecular mechanisms by which the nuclear genome regulates the biosynthesis of mitochondrial DNA (mtDNA) are only beginning to be unravelled. A naturally occurring in vivo model for a defect in this cross–talk of two physically separate genomes is a human disease, an autosomal dominant progressive external ophthalmoplegia, in which multiple deletions of mtDNA accumulate in the patients' tissues. The assignment of this disease locus to 10q 23.3–24.3 is the first direct evidence for involvement of both nuclear and mitochondrial genomes in a single disorder. © 1991 Nature Publishing Group.
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/3354585
Citazioni
  • ???jsp.display-item.citation.pmc??? 24
  • Scopus 217
  • ???jsp.display-item.citation.isi??? 222
social impact