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{{ | '''Tyrosyl-DNA phosphodiesterase 1''' is an [[enzyme]] that in humans is encoded by the ''TDP1'' [[gene]].<ref name="pmid11839309">{{cite journal | vauthors = Davies DR, Interthal H, Champoux JJ, Hol WG | title = The crystal structure of human tyrosyl-DNA phosphodiesterase, Tdp1 | journal = Structure | volume = 10 | issue = 2 | pages = 237–48 |date=Feb 2002 | pmid = 11839309 | pmc = | doi =10.1016/S0969-2126(02)00707-4 }}</ref><ref name="pmid12244316">{{cite journal | vauthors = Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR | title = Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with [[axonal]] [[neuropathy]] | journal = Nat Genet | volume = 32 | issue = 2 | pages = 267–72 |date=Sep 2002 | pmid = 12244316 | pmc = | doi = 10.1038/ng987 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TDP1 tyrosyl-DNA phosphodiesterase 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55775| accessdate = }}</ref> | ||
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{{ | {{PBB Summary | ||
| section_title = | | section_title = | ||
| summary_text = The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase | | summary_text = The [[protein]] encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the [[hydrolysis]] of the [[phosphodiester bond]] between the [[tyrosine]] residue of [[Type I topoisomerase]] and the 3-prime [[phosphate]] of [[DNA]]. This protein may also remove [[glycolate]] from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of [[free-radical]] mediated DNA double-strand breaks. | ||
This gene is a member of the [[phospholipase D]] family and contains two PLD phosphodiesterase domains. [[Mutations]] in this gene are associated with the disease [[spinocerebellar ataxia]] with axonal neuropathy (SCAN1). While several [[transcript variants]] may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same [[gene isoform|isoform]].<ref name="entrez"/> | |||
}} | }} | ||
==References== | ==References== | ||
{{reflist | {{reflist}} | ||
==External links== | |||
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=scan1 GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive] | |||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
{{PBB_Further_reading | {{PBB_Further_reading | ||
| citations = | | citations = | ||
*{{cite journal | | *{{cite journal | vauthors=El-Khamisy SF, Caldecott KW |title=TDP1-dependent DNA single-strand break repair and neurodegeneration. |journal=Mutagenesis |volume=21 |issue= 4 |pages= 219–24 |year= 2007 |pmid= 16775218 |doi= 10.1093/mutage/gel024 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Pouliot JJ, Yao KC, Robertson CA, Nash HA |title=Yeast gene for a Tyr-DNA phosphodiesterase that repairs topoisomerase I complexes. |journal=Science |volume=286 |issue= 5439 |pages= 552–5 |year= 1999 |pmid= 10521354 |doi=10.1126/science.286.5439.552 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Interthal H, Pouliot JJ, Champoux JJ |title=The tyrosyl-DNA phosphodiesterase Tdp1 is a member of the phospholipase D superfamily. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 21 |pages= 12009–14 |year= 2001 |pmid= 11572945 |doi= 10.1073/pnas.211429198 | pmc=59758 }} | ||
*{{cite journal | *{{cite journal |vauthors=Inamdar KV, Pouliot JJ, Zhou T, etal |title=Conversion of phosphoglycolate to phosphate termini on 3' overhangs of DNA double strand breaks by the human tyrosyl-DNA phosphodiesterase hTdp1. |journal=J. Biol. Chem. |volume=277 |issue= 30 |pages= 27162–8 |year= 2002 |pmid= 12023295 |doi= 10.1074/jbc.M204688200 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Davies DR, Interthal H, Champoux JJ, Hol WG |title=Insights into substrate binding and catalytic mechanism of human tyrosyl-DNA phosphodiesterase (Tdp1) from vanadate and tungstate-inhibited structures. |journal=J. Mol. Biol. |volume=324 |issue= 5 |pages= 917–32 |year= 2003 |pmid= 12470949 |doi=10.1016/S0022-2836(02)01154-3 }} | ||
*{{cite journal | *{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }} | ||
*{{cite journal | *{{cite journal |vauthors=Heilig R, Eckenberg R, Petit JL, etal |title=The DNA sequence and analysis of human chromosome 14. |journal=Nature |volume=421 |issue= 6923 |pages= 601–7 |year= 2003 |pmid= 12508121 |doi= 10.1038/nature01348 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Davies DR, Interthal H, Champoux JJ, Hol WG |title=Crystal structure of a transition state mimic for Tdp1 assembled from vanadate, DNA, and a topoisomerase I-derived peptide. |journal=Chem. Biol. |volume=10 |issue= 2 |pages= 139–47 |year= 2003 |pmid= 12618186 |doi=10.1016/S1074-5521(03)00021-8 }} | ||
*{{cite journal | *{{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Davies DR, Interthal H, Champoux JJ, Hol WG |title=Explorations of peptide and oligonucleotide binding sites of tyrosyl-DNA phosphodiesterase using vanadate complexes. |journal=J. Med. Chem. |volume=47 |issue= 4 |pages= 829–37 |year= 2004 |pmid= 14761185 |doi= 10.1021/jm030487x }} | ||
*{{cite journal | *{{cite journal |vauthors=Raymond AC, Rideout MC, Staker B, etal |title=Analysis of human tyrosyl-DNA phosphodiesterase I catalytic residues. |journal=J. Mol. Biol. |volume=338 |issue= 5 |pages= 895–906 |year= 2004 |pmid= 15111055 |doi= 10.1016/j.jmb.2004.03.013 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Yang M, Kirley TL |title=Site-directed mutagenesis of human soluble calcium-activated nucleotidase 1 (hSCAN-1): identification of residues essential for enzyme activity and the Ca(2+)-induced conformational change. |journal=Biochemistry |volume=43 |issue= 28 |pages= 9185–94 |year= 2004 |pmid= 15248776 |doi= 10.1021/bi049565o }} | ||
*{{cite journal | *{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }} | ||
*{{cite journal | *{{cite journal |vauthors=Barthelmes HU, Habermeyer M, Christensen MO, etal |title=TDP1 overexpression in human cells counteracts DNA damage mediated by topoisomerases I and II. |journal=J. Biol. Chem. |volume=279 |issue= 53 |pages= 55618–25 |year= 2005 |pmid= 15494395 |doi= 10.1074/jbc.M405042200 }} | ||
*{{cite journal | *{{cite journal |vauthors=Zhou T, Lee JW, Tatavarthi H, etal |title=Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1). |journal=Nucleic Acids Res. |volume=33 |issue= 1 |pages= 289–97 |year= 2005 |pmid= 15647511 |doi= 10.1093/nar/gki170 | pmc=546157 }} | ||
*{{cite journal |vauthors=El-Khamisy SF, Saifi GM, Weinfeld M, etal |title=Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. |journal=Nature |volume=434 |issue= 7029 |pages= 108–13 |year= 2005 |pmid= 15744309 |doi= 10.1038/nature03314 }} | |||
*{{cite journal | vauthors=Raymond AC, Staker BL, Burgin AB |title=Substrate specificity of tyrosyl-DNA phosphodiesterase I (Tdp1). |journal=J. Biol. Chem. |volume=280 |issue= 23 |pages= 22029–35 |year= 2005 |pmid= 15811850 |doi= 10.1074/jbc.M502148200 }} | |||
*{{cite journal | |||
*{{cite journal | | |||
}} | }} | ||
{{refend}} | {{refend}} | ||
{{PDB Gallery|geneid=55775}} | |||
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{{ | {{gene-14-stub}} | ||
Latest revision as of 11:43, 15 September 2017
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| External IDs | GeneCards: [1] | ||||||
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| Species | Human | Mouse | |||||
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| Location (UCSC) | n/a | n/a | |||||
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Tyrosyl-DNA phosphodiesterase 1 is an enzyme that in humans is encoded by the TDP1 gene.[1][2][3]
The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of Type I topoisomerase and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks.
This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same isoform.[3]
References
- ↑ Davies DR, Interthal H, Champoux JJ, Hol WG (Feb 2002). "The crystal structure of human tyrosyl-DNA phosphodiesterase, Tdp1". Structure. 10 (2): 237–48. doi:10.1016/S0969-2126(02)00707-4. PMID 11839309.
- ↑ Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR (Sep 2002). "Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy". Nat Genet. 32 (2): 267–72. doi:10.1038/ng987. PMID 12244316.
- ↑ 3.0 3.1 "Entrez Gene: TDP1 tyrosyl-DNA phosphodiesterase 1".
External links
Further reading
- El-Khamisy SF, Caldecott KW (2007). "TDP1-dependent DNA single-strand break repair and neurodegeneration". Mutagenesis. 21 (4): 219–24. doi:10.1093/mutage/gel024. PMID 16775218.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Pouliot JJ, Yao KC, Robertson CA, Nash HA (1999). "Yeast gene for a Tyr-DNA phosphodiesterase that repairs topoisomerase I complexes". Science. 286 (5439): 552–5. doi:10.1126/science.286.5439.552. PMID 10521354.
- Interthal H, Pouliot JJ, Champoux JJ (2001). "The tyrosyl-DNA phosphodiesterase Tdp1 is a member of the phospholipase D superfamily". Proc. Natl. Acad. Sci. U.S.A. 98 (21): 12009–14. doi:10.1073/pnas.211429198. PMC 59758. PMID 11572945.
- Inamdar KV, Pouliot JJ, Zhou T, et al. (2002). "Conversion of phosphoglycolate to phosphate termini on 3' overhangs of DNA double strand breaks by the human tyrosyl-DNA phosphodiesterase hTdp1". J. Biol. Chem. 277 (30): 27162–8. doi:10.1074/jbc.M204688200. PMID 12023295.
- Davies DR, Interthal H, Champoux JJ, Hol WG (2003). "Insights into substrate binding and catalytic mechanism of human tyrosyl-DNA phosphodiesterase (Tdp1) from vanadate and tungstate-inhibited structures". J. Mol. Biol. 324 (5): 917–32. doi:10.1016/S0022-2836(02)01154-3. PMID 12470949.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Heilig R, Eckenberg R, Petit JL, et al. (2003). "The DNA sequence and analysis of human chromosome 14". Nature. 421 (6923): 601–7. doi:10.1038/nature01348. PMID 12508121.
- Davies DR, Interthal H, Champoux JJ, Hol WG (2003). "Crystal structure of a transition state mimic for Tdp1 assembled from vanadate, DNA, and a topoisomerase I-derived peptide". Chem. Biol. 10 (2): 139–47. doi:10.1016/S1074-5521(03)00021-8. PMID 12618186.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Davies DR, Interthal H, Champoux JJ, Hol WG (2004). "Explorations of peptide and oligonucleotide binding sites of tyrosyl-DNA phosphodiesterase using vanadate complexes". J. Med. Chem. 47 (4): 829–37. doi:10.1021/jm030487x. PMID 14761185.
- Raymond AC, Rideout MC, Staker B, et al. (2004). "Analysis of human tyrosyl-DNA phosphodiesterase I catalytic residues". J. Mol. Biol. 338 (5): 895–906. doi:10.1016/j.jmb.2004.03.013. PMID 15111055.
- Yang M, Kirley TL (2004). "Site-directed mutagenesis of human soluble calcium-activated nucleotidase 1 (hSCAN-1): identification of residues essential for enzyme activity and the Ca(2+)-induced conformational change". Biochemistry. 43 (28): 9185–94. doi:10.1021/bi049565o. PMID 15248776.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Barthelmes HU, Habermeyer M, Christensen MO, et al. (2005). "TDP1 overexpression in human cells counteracts DNA damage mediated by topoisomerases I and II". J. Biol. Chem. 279 (53): 55618–25. doi:10.1074/jbc.M405042200. PMID 15494395.
- Zhou T, Lee JW, Tatavarthi H, et al. (2005). "Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1)". Nucleic Acids Res. 33 (1): 289–97. doi:10.1093/nar/gki170. PMC 546157. PMID 15647511.
- El-Khamisy SF, Saifi GM, Weinfeld M, et al. (2005). "Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1". Nature. 434 (7029): 108–13. doi:10.1038/nature03314. PMID 15744309.
- Raymond AC, Staker BL, Burgin AB (2005). "Substrate specificity of tyrosyl-DNA phosphodiesterase I (Tdp1)". J. Biol. Chem. 280 (23): 22029–35. doi:10.1074/jbc.M502148200. PMID 15811850.
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