Difference between revisions of "YOR330C"
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| − | |valign="top" nowrap bgcolor="{{SGDblue}}"| '''Systematic name''' || [http:// | + | |valign="top" nowrap bgcolor="{{SGDblue}}"| '''Systematic name''' || [http://www.yeastgenome.org/cgi-bin/locus.pl?dbid=S000005857 YOR330C] |
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|valign="top" nowrap bgcolor="{{SGDblue}}"| '''Gene name''' ||''MIP1 '' | |valign="top" nowrap bgcolor="{{SGDblue}}"| '''Gene name''' ||''MIP1 '' | ||
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| − | '''Description of YOR330C:''' | + | '''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 |
{{SGDpaper|S000114458}} PMID 16491467</ref> | {{SGDpaper|S000114458}} PMID 16491467</ref> | ||
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Latest revision as of 14:05, 9 March 2012
Share your knowledge...Edit this entry! <protect>
| 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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- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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
- ↑ 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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