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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
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Journal Article
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
2007
Overview
Mitochondrial DNA (mtDNA) depletion syndrome (MDS; MIM 251880) is a prevalent cause of oxidative phosphorylation disorders characterized by a reduction in mtDNA copy number. The hitherto recognized disease mechanisms alter either mtDNA replication (
POLG
(ref.
1
)) or the salvage pathway of mitochondrial deoxyribonucleosides 5′-triphosphates (dNTPs) for mtDNA synthesis (
DGUOK
(ref.
2
),
TK2
(ref.
3
) and
SUCLA2
(ref.
4
)). A last gene,
MPV17
(ref.
5
), has no known function. Yet the majority of cases remain unexplained. Studying seven cases of profound mtDNA depletion (1–2% residual mtDNA in muscle) in four unrelated families, we have found nonsense, missense and splice-site mutations and in-frame deletions of the
RRM2B
gene, encoding the cytosolic p53-inducible ribonucleotide reductase small subunit. Accordingly, severe mtDNA depletion was found in various tissues of the
Rrm2b
−/−
mouse. The mtDNA depletion triggered by p53R2 alterations in both human and mouse implies that p53R2 has a crucial role in dNTP supply for mtDNA synthesis.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Animals
/ Biomedical and Life Sciences
/ Cell Cycle Proteins - genetics
/ Cell Cycle Proteins - physiology
/ DNA, Mitochondrial - genetics
/ Female
/ Genetics
/ Humans
/ letter
/ Male
/ Mice
/ Mitochondrial Diseases - etiology
/ Mitochondrial Diseases - pathology
/ Mutation
/ Pedigree
/ Ribonucleotide Reductases - genetics
/ Ribonucleotide Reductases - physiology
/ Rodents
