RECQL4
ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the RECQL4 gene.[3][4][5]
Mutations in RECQL4 are associated with the autosomal recessive disease Rothmund-Thomson Syndrome. There are two types of Rothmund Thomson syndrome and it is Type 2 that is caused by patients carrying deleterious mutations in both copies of the RECQL4 gene. This condition is associated with a high risk of developing osteosarcoma (malignant tumor of the bone).[6]
RECQL4 gets it name from being homologous (sharing sequence) with other members of the RecQ helicase family. Two other genetic diseases are due to mutations in other RECQ helicases. Bloom syndrome is associated with mutations in the BLM gene and Werner syndrome is associated with mutations in the WRN gene.[7]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y, Shimamoto A (Feb 1999). "Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes". Genomics. 54 (3): 443–52. doi:10.1006/geno.1998.5595. PMID 9878247.
- ↑ Sangrithi MN, Bernal JA, Madine M, Philpott A, Lee J, Dunphy WG, Venkitaraman AR (Jun 2005). "Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome". Cell. 121 (6): 887–98. doi:10.1016/j.cell.2005.05.015. PMID 15960976.
- ↑ "Entrez Gene: RECQL4 RecQ protein-like 4".
- ↑ Wang LL, Gannavarapu A, Kozinetz CA, et al. (2003). "Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.". J. Natl. Cancer Inst. 95 (9): 669–74. doi:10.1093/jnci/95.9.669. PMID 12734318.
- ↑ Kitao S, Lindor NM, Shiratori M, et al. (2000). "Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.". Genomics. 61 (3): 268–76. doi:10.1006/geno.1999.5959. PMID 10552928.
External links
Further reading
- Kellermayer R (2006). "The versatile RECQL4.". Genet. Med. 8 (4): 213–6. doi:10.1097/01.gim.0000214457.58378.1a. PMID 16617241.
- Soukup T (1976). "Intrafusal fibre types in rat limb muscle spindles: morphological and histochemical characteristics.". Histochemistry. 47 (1): 43–57. doi:10.1007/BF00492992. PMID 133085.
- Kitao S, Shimamoto A, Goto M, et al. (1999). "Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.". Nat. Genet. 22 (1): 82–4. doi:10.1038/8788. PMID 10319867.
- Yankiwski V, Marciniak RA, Guarente L, Neff NF (2000). "Nuclear structure in normal and Bloom syndrome cells.". Proc. Natl. Acad. Sci. U.S.A. 97 (10): 5214–9. doi:10.1073/pnas.090525897. PMC 25808
. PMID 10779560.
- Kawabe T, Tsuyama N, Kitao S, et al. (2000). "Differential regulation of human RecQ family helicases in cell transformation and cell cycle.". Oncogene. 19 (41): 4764–72. doi:10.1038/sj.onc.1203841. PMID 11032027.
- Wang LL, Worley K, Gannavarapu A, et al. (2002). "Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome.". Am. J. Hum. Genet. 71 (1): 165–7. doi:10.1086/341234. PMC 384974. PMID 12016592.
- 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.
- Roversi G, Beghini A, Zambruno G, et al. (2003). "Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite.". J. Hum. Genet. 48 (2): 107–9. doi:10.1007/s100380300016. PMID 12601557.
- Wang LL, Gannavarapu A, Clericuzio CL, et al. (2004). "Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients.". Am. J. Med. Genet. A. 118 (3): 299–301. doi:10.1002/ajmg.a.10057. PMID 12673665.
- Beghini A, Castorina P, Roversi G, et al. (2004). "RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.". Am. J. Med. Genet. A. 120 (3): 395–9. doi:10.1002/ajmg.a.20154. PMID 12838562.
- Siitonen HA, Kopra O, Kääriäinen H, et al. (2004). "Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.". Hum. Mol. Genet. 12 (21): 2837–44. doi:10.1093/hmg/ddg306. PMID 12952869.
- Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.
- Nishijo K, Nakayama T, Aoyama T, et al. (2004). "Mutation analysis of the RECQL4 gene in sporadic osteosarcomas.". Int. J. Cancer. 111 (3): 367–72. doi:10.1002/ijc.20269. PMID 15221963.
- Yin J, Kwon YT, Varshavsky A, Wang W (2005). "RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.". Hum. Mol. Genet. 13 (20): 2421–30. doi:10.1093/hmg/ddh269. PMID 15317757.
- 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.
- Sengupta S, Shimamoto A, Koshiji M, et al. (2005). "Tumor suppressor p53 represses transcription of RECQ4 helicase.". Oncogene. 24 (10): 1738–48. doi:10.1038/sj.onc.1208380. PMID 15674334.
