RECQL4
ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the RECQL4 gene.[5][6][7] Template:PBB Summary 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).[8] 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.[9]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000160957 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033762 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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
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