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HPMR

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DNA polymerase gamma 2, accessory subunit OKDB#: 5100
 Symbols: POLG2 Species: human
 Synonyms: HP55, POLB, PEOA4, POLGB, MTPOLB, MTDPS16, POLG-BETA  Locus: 17q23.3 in Homo sapiens


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General Comment NCBI Summary: This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]
General function
Comment
Cellular localization Mitochondrial
Comment
Ovarian function Oocyte maturation, Early embryo development
Comment Polymerase subunit gamma 2 affects porcine oocyte maturation and subsequent embryonic development. Lee SK et al. (2014) Deoxyribonucleic acid polymerase subunit gamma (POLG) is an enzyme encoded by the mitochondrial Polg gene. Polymerase (DNA directed), gamma 2, accessory subunit, also known as POLG2, is involved in mitochondrial replication. In the present study, we examined the role of Polg2 in the maturation of porcine oocytes. After Polg2 knockdown, the mitochondrial DNA copy number was significantly (P < 0.05) lower than that in the control group. However, there was no decrease in mitochondrial membrane potential. The decrease in mitochondrial DNA copy number led to reductions in adenosine-5'-triphosphate content (P < 0.05) and the maturation rate (P < 0.05) of oocytes. Furthermore, in the Polg2-knockdown group, maturation-promoting factor activity was decreased (P < 0.05) and the percentage of oocytes displaying abnormal actin filaments and microtubules was significantly increased (P < 0.05). This likely led to the reduced development rate and number of cells per blastocyst in this group (P < 0.05). In conclusion, Polg2 seems to be critical for mitochondrial replication and regulation of adenosine-5'-triphosphate content and affects porcine oocyte maturation and subsequent embryonic development.//////////////////
Expression regulated by
Comment
Ovarian localization Oocyte
Comment
Follicle stages Antral, Preovulatory
Comment
Phenotypes
Mutations 1 mutations

Species: mouse
Mutation name:
type: naturally occurring
fertility: embryonic lethal
Comment: Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance. Humble MM et al. (2013) Mammalian mitochondrial DNA (mtDNA) is replicated by the heterotrimeric Pol γ comprised of a single catalytic subunit, encoded by Polg, and a homodimeric accessory subunit encoded by the Polg2 gene. While the catalytic subunit has been shown to be essential for embryo development, genetic data regarding the accessory subunit are lacking in mammalian systems. Here, we describe the generation of heterozygous (Polg2(+/-)) and homozygous (Polg2(-/-)) knockout (KO) mice. Polg2(+/-) mice are haplosufficient and develop normally with no discernable difference in mitochondrial function through 2 years of age. In contrast, the Polg2(-/-) is embryonic lethal at day 8.0-8.5 p.c. with concomitant loss of mtDNA and mtDNA gene products. Electron microscopy shows severe ultra-structural defects and loss of organized cristae in mitochondria of the Polg2(-/-) embryos as well as an increase in lipid accumulation compared with both wild-type (WT) and Polg2(+/-) embryos. Our data indicate that Polg2 function is critical to mammalian embryogenesis and mtDNA replication, and that a single copy of Polg2 is sufficient to sustain life.//////////////////

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created: Jan. 22, 2015, 1:20 p.m. by: system   email:
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last update: May 5, 2020, 12:56 p.m. by: hsueh    email:



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