Werner syndrome ATP-dependent helicase
From Wikipedia, the free encyclopedia
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Werner syndrome
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| PDB rendering based on 2axl. | ||||||||||||||
| Available structures: 2axl, 2dgz, 2e1e, 2e1f, 2fbt, 2fbv, 2fbx, 2fby, 2fc0 | ||||||||||||||
| Identifiers | ||||||||||||||
| Symbol(s) | WRN; RECQL2; RECQL3; DKFZp686C2056; RECQ3 | |||||||||||||
| External IDs | OMIM: 604611 MGI: 109635 HomoloGene: 6659 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 7486 | 22427 | ||||||||||||
| Ensembl | ENSG00000165392 | ENSMUSG00000031583 | ||||||||||||
| Uniprot | Q14191 | Q3TB25 | ||||||||||||
| Refseq | NM_000553 (mRNA) NP_000544 (protein) |
XM_986059 (mRNA) XP_991153 (protein) |
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| Location | Chr 8: 31.01 - 31.15 Mb | Chr 8: 34.7 - 34.85 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
WRN (Werner syndrome) is a human gene that provides instructions for producing Werner protein, which is a type of enzyme called a helicase. Helicase enzymes generally unwind and separate double-stranded DNA. These activities are necessary before DNA can be copied in preparation for cell division (DNA replication). Helicase enzymes are also critical for making a blueprint of a gene for protein production, a process called transcription. Further evidence suggests that Werner protein plays a critical role in repairing DNA. Overall, this protein helps maintain the structure and integrity of a person's DNA.
The WRN gene is located on the short (p) arm of chromosome 8 between positions 12 and 11.2, from base pair 31,010,319 to base pair 31,150,818.
[edit] Related conditions
Werner syndrome is caused by mutations in the WRN gene. More than 20 mutations in the WRN gene are known to cause Werner syndrome. Many of these mutations result in an abnormally shortened Werner protein. Evidence suggests that the altered protein is not transported into the cell nucleus, where it normally interacts with DNA. This shortened protein may also be broken down too quickly, leading to a loss of Werner protein in the cell. Without normal Werner protein in the nucleus, cells cannot perform the tasks of DNA replication, repair, and transcription. Researchers are still determining how these mutations cause the appearance of premature aging seen in Werner syndrome.
[edit] References
- Comai L, Li B (2004). "The Werner syndrome protein at the crossroads of DNA repair and apoptosis". Mech Ageing Dev 125 (8): 521–8. doi:. PMID 15336909.
- Lee JW, Harrigan J, Opresko PL, Bohr VA (2005). "Pathways and functions of the Werner syndrome protein". Mech Ageing Dev 126 (1): 79–86. doi:. PMID 15610765.
- Monnat RJ Jr, Saintigny Y (2004). "Werner syndrome protein--unwinding function to explain disease". Sci Aging Knowledge Environ 2004 (13): re3. doi:. PMID 15056797.
- Ozgenc A, Loeb LA (2005). "Current advances in unraveling the function of the Werner syndrome protein". Mutat Res 577 (1-2): 237–51. PMID 15946710.
- Swanson C, Saintigny Y, Emond MJ, Monnat RJ Jr (2004). "The Werner syndrome protein has separable recombination and survival functions". DNA Repair (Amst) 3 (5): 475–82. doi:. PMID 15084309.
- Moser MJ, Oshima J, Monnat RJ (1999). "WRN mutations in Werner syndrome.". Hum. Mutat. 13 (4): 271–9. doi:. PMID 10220139.
- Kastan MB, Lim DS (2001). "The many substrates and functions of ATM.". Nat. Rev. Mol. Cell Biol. 1 (3): 179–86. doi:. PMID 11252893.
