Difference between revisions of "YOR330C"

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'''Description of YOR330C:''' Catalytic subunit of the mitochondrial DNA polymerase; conserved C-terminal segment is required for the maintenance of mitochondrial genome; mutations in the human ortholog POLG are associated with Alpers-Huttenlocher syndrome (AHS) and other mitochondrial diseases<ref name='S000147989'>Baruffini E, et al. (2011) Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion 11(1):182-90 {{SGDpaper|S000147989}} PMID 20883824</ref><ref name='S000048961'>Foury F (1989) Cloning and sequencing of the nuclear gene MIP1 encoding the catalytic subunit of the yeast mitochondrial DNA polymerase. J Biol Chem 264(34):20552-60 {{SGDpaper|S000048961}} PMID 2684980</ref><ref name='S000147990'>Stewart JD, et al. (2010) Polymerase gamma gene POLG determines the risk of sodium valproate-induced liver toxicity. Hepatology 52(5):1791-6 {{SGDpaper|S000147990}} PMID 21038416</ref><ref name='S000113881'>Stuart GR, et al. (2006) Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. Hum Mol Genet 15(2):363-74 {{SGDpaper|S000113881}} PMID 16368709</ref><ref name='S000114458'>Young MJ, et al. (2006) The carboxyl-terminal extension on fungal mitochondrial DNA polymerases: identification of a critical region of the enzyme from Saccharomyces cerevisiae. Yeast 23(2):101-16
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'''Description of YOR330C:''' Mitochondrial DNA polymerase; conserved C-terminal segment is required for the maintenance of mitochondrial genome; mutations in the human ortholog POLG are associated with Alpers-Huttenlocher syndrome (AHS) and other mitochondrial diseases; Mip1p is the single subunit of mitochondrial DNA polymerase in yeast, in contrast to metazoans in which there is a complex of a catalytic subunit and an accessory subunit<ref name='S000147989'>Baruffini E, et al. (2011) Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion 11(1):182-90 {{SGDpaper|S000147989}} PMID 20883824</ref><ref name='S000048961'>Foury F (1989) Cloning and sequencing of the nuclear gene MIP1 encoding the catalytic subunit of the yeast mitochondrial DNA polymerase. J Biol Chem 264(34):20552-60 {{SGDpaper|S000048961}} PMID 2684980</ref><ref name='S000086492'>Lucas P, et al. (2004) Absence of accessory subunit in the DNA polymerase gamma purified from yeast mitochondria. Mitochondrion 4(1):13-20 {{SGDpaper|S000086492}} PMID 16120369</ref><ref name='S000147990'>Stewart JD, et al. (2010) Polymerase gamma gene POLG determines the risk of sodium valproate-induced liver toxicity. Hepatology 52(5):1791-6 {{SGDpaper|S000147990}} PMID 21038416</ref><ref name='S000113881'>Stuart GR, et al. (2006) Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. Hum Mol Genet 15(2):363-74 {{SGDpaper|S000113881}} PMID 16368709</ref><ref name='S000114458'>Young MJ, et al. (2006) The carboxyl-terminal extension on fungal mitochondrial DNA polymerases: identification of a critical region of the enzyme from Saccharomyces cerevisiae. Yeast 23(2):101-16
 
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Latest revision as of 13:05, 9 March 2012

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Systematic name YOR330C
Gene name MIP1
Aliases
Feature type ORF, Verified
Coordinates Chr XV:943385..939621
Primary SGDID S000005857


Description of YOR330C: Mitochondrial DNA polymerase; conserved C-terminal segment is required for the maintenance of mitochondrial genome; mutations in the human ortholog POLG are associated with Alpers-Huttenlocher syndrome (AHS) and other mitochondrial diseases; Mip1p is the single subunit of mitochondrial DNA polymerase in yeast, in contrast to metazoans in which there is a complex of a catalytic subunit and an accessory subunit[1][2][3][4][5][6]




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References

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  1. ↑ Baruffini E, et al. (2011) Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion 11(1):182-90 SGD PMID 20883824
  2. ↑ Foury F (1989) Cloning and sequencing of the nuclear gene MIP1 encoding the catalytic subunit of the yeast mitochondrial DNA polymerase. J Biol Chem 264(34):20552-60 SGD PMID 2684980
  3. ↑ Lucas P, et al. (2004) Absence of accessory subunit in the DNA polymerase gamma purified from yeast mitochondria. Mitochondrion 4(1):13-20 SGD PMID 16120369
  4. ↑ Stewart JD, et al. (2010) Polymerase gamma gene POLG determines the risk of sodium valproate-induced liver toxicity. Hepatology 52(5):1791-6 SGD PMID 21038416
  5. ↑ Stuart GR, et al. (2006) Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. Hum Mol Genet 15(2):363-74 SGD PMID 16368709
  6. ↑ Young MJ, et al. (2006) The carboxyl-terminal extension on fungal mitochondrial DNA polymerases: identification of a critical region of the enzyme from Saccharomyces cerevisiae. Yeast 23(2):101-16 SGD PMID 16491467

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