Why do mammalian mitochondria possess a mismatch repair activity?

FEBS Letters

Mason, P.A.¹  Lightowlers, R.N.¹ 

[1] School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK

关键词: Mitochondrial DNA;    MtDNA repair;    Mitochondrial mismatch repair;    NER;    nucleotide excision repair;    BER;    base excision repair;    MMR;    mismatch repair;    MSH;    MutS homologue;    MLH;    MutL homologue;    LLR;    long loop repair;    mt-MMR;    mitochondrial mismatch repair;   

DOI  :  10.1016/S0014-5793(03)01169-4

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

All nucleated mammalian cells contain mitochondrial DNA, a small (approximately 15–17 kb) circular genome found in the matrix. This molecule is present in multiple copies, with numbers routinely exceeding 1000 per cell. Many pathogenic mutations of this genome have been reported, with the vast majority being highly recessive. A mismatch repair activity has been recently described in mitochondria that shows no strand bias for correcting point mutations. What could be the physiological function of such an activity? Mammalian mtDNA is remarkable in being a patchwork of many short repeat sequences. With reference to several recent publications, we hypothesise that the function of this activity is to preserve the mitochondrial genome by repairing short loop out sequences that would otherwise be lost as mitochondrial DNA polymerase gamma replicates the mitochondrial genome.

【 授权许可】

Unknown