# RECQL4

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> Source revision: 1301025604
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{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox gene}}
'''ATP-dependent DNA helicase Q4''' is an [enzyme](/source/enzyme) that in humans is encoded by the ''RECQL4'' [gene](/source/gene).<ref name="pmid9878247">{{cite journal | vauthors = Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y, Shimamoto A | title = Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes | journal = Genomics | volume = 54 | issue = 3 | pages = 443–52 |date=Feb 1999 | pmid = 9878247 | doi = 10.1006/geno.1998.5595 }}</ref><ref name="pmid15960976">{{cite journal | vauthors = Sangrithi MN, Bernal JA, Madine M, Philpott A, Lee J, Dunphy WG, Venkitaraman AR | title = Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome | journal = Cell | volume = 121 | issue = 6 | pages = 887–98 |date=Jun 2005 | pmid = 15960976 | doi = 10.1016/j.cell.2005.05.015 | s2cid = 15064074 | doi-access = free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: RECQL4 RecQ protein-like 4| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=9401}}</ref>

Mutations in ''RECQL4'' are associated with the autosomal recessive disease [Rothmund–Thomson syndrome](/source/Rothmund%E2%80%93Thomson_syndrome), a disorder that has features of premature aging.<ref name="pmid24832598">{{cite journal |vauthors=Lu H, Fang EF, Sykora P, Kulikowicz T, Zhang Y, Becker KG, Croteau DL, Bohr VA |title=Senescence induced by RECQL4 dysfunction contributes to Rothmund–Thomson syndrome features in mice |journal=Cell Death Dis |volume=5 |issue= 5|pages=e1226 |year=2014 |pmid=24832598 |pmc=4047874 |doi=10.1038/cddis.2014.168 }}</ref><ref name="pmid27287744">{{cite journal |vauthors=Lu L, Jin W, Wang LL |title=Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders |journal=Ageing Res. Rev. |volume=33 |pages=30–35 |year=2017 |pmid=27287744 |doi=10.1016/j.arr.2016.06.002 |s2cid=28321025 }}</ref>  In addition to the Rothmund–Thomson syndrome, ''RECQL4'' mutations are also associated with [RAPADILINO](/source/RAPADILINO_syndrome) and [Baller–Gerold syndrome](/source/Baller%E2%80%93Gerold_syndrome)s.<ref name="pmid24942867">{{cite journal |vauthors=Shamanna RA, Singh DK, Lu H, Mirey G, Keijzers G, Salles B, Croteau DL, Bohr VA |title=RECQ helicase RECQL4 participates in non-homologous end joining and interacts with the Ku complex |journal=Carcinogenesis |volume=35 |issue=11 |pages=2415–24 |year=2014 |pmid=24942867 |pmc=4216052 |doi=10.1093/carcin/bgu137 }}</ref>  There are two types of Rothmund Thomson syndrome and it is Type 2 that occurs in patients carrying deleterious mutations in both copies of the ''RECQL4'' gene.  This condition is associated with a high risk of developing [osteosarcoma](/source/osteosarcoma) (malignant tumor of the bone).<ref>{{cite journal   |vauthors=Wang LL, Gannavarapu A, Kozinetz CA, etal |title=Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. |journal=J. Natl. Cancer Inst. |volume=95 |issue= 9 |pages= 669–74 |year= 2003 |pmid= 12734318 |doi=10.1093/jnci/95.9.669  |doi-access=free }}</ref>
''RECQL4'' gets its name from being homologous (sharing sequence) with other members of the [RecQ helicase](/source/RecQ_helicase) family.  Two other genetic diseases are due to mutations in other RECQ helicases. [Bloom syndrome](/source/Bloom_syndrome) is associated with mutations in the ''BLM'' gene and [Werner syndrome](/source/Werner_syndrome) is associated with mutations in the ''WRN'' gene.<ref>{{cite journal   |vauthors=Kitao S, Lindor NM, Shiratori M, etal |title=Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products. |journal=Genomics |volume=61 |issue= 3 |pages= 268–76 |year= 2000 |pmid= 10552928 |doi= 10.1006/geno.1999.5959 }}</ref>

==DNA repair==

[Double-strand breaks](/source/Double-strand_breaks) in DNA are potentially lethal to a cell and need to be repaired.  Repair of double-strand breaks by [homologous recombination](/source/homologous_recombination) (HR) is an important cellular mechanism for avoiding this lethality.  RECQL4 has a crucial role in the first step of HR, referred to as end resection.<ref name="pmid27320928">{{cite journal |vauthors=Lu H, Shamanna RA, Keijzers G, Anand R, Rasmussen LJ, Cejka P, Croteau DL, Bohr VA |title=RECQL4 Promotes DNA End Resection in Repair of DNA Double-Strand Breaks |journal=Cell Rep |volume=16 |issue=1 |pages=161–73 |year=2016 |pmid=27320928 |pmc=5576896 |doi=10.1016/j.celrep.2016.05.079 }}</ref>  When RECQL4 is deficient, end resection, and thus HR, is reduced.  Evidence suggests that other forms of DNA repair including [non-homologous end joining](/source/non-homologous_end_joining), [nucleotide excision repair](/source/nucleotide_excision_repair) and [base excision repair](/source/base_excision_repair) also depend on RECQL4 function.<ref name="pmid27287744" />  In the Rothmund-Thomson syndrome, the association of deficient RECQL4-mediated DNA repair and premature aging is consistent with the [DNA damage theory of aging](/source/DNA_damage_theory_of_aging).

==References==
{{reflist}}

==Further reading==
{{refbegin | 2}}
*{{cite journal  | author=Kellermayer R |title=The versatile RECQL4. |journal=Genet. Med. |volume=8 |issue= 4 |pages= 213–6 |year= 2006 |pmid= 16617241 |doi= 10.1097/01.gim.0000214457.58378.1a |doi-access= free }}
*{{cite journal  | author=Soukup T |title=Intrafusal fibre types in rat limb muscle spindles: morphological and histochemical characteristics. |journal=Histochemistry |volume=47 |issue= 1 |pages= 43–57 |year= 1976 |pmid= 133085 |doi=10.1007/BF00492992  |s2cid=23487130 }}
*{{cite journal   |vauthors=Kitao S, Shimamoto A, Goto M, etal |title=Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. |journal=Nat. Genet. |volume=22 |issue= 1 |pages= 82–4 |year= 1999 |pmid= 10319867 |doi= 10.1038/8788 |s2cid=195211275 }}
*{{cite journal  | vauthors=Yankiwski V, Marciniak RA, Guarente L, Neff NF |title=Nuclear structure in normal and Bloom syndrome cells. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 10 |pages= 5214–9 |year= 2000 |pmid= 10779560 |doi= 10.1073/pnas.090525897  | pmc=25808 |bibcode=2000PNAS...97.5214Y |doi-access=free }}
*{{cite journal   |vauthors=Kawabe T, Tsuyama N, Kitao S, etal |title=Differential regulation of human RecQ family helicases in cell transformation and cell cycle. |journal=Oncogene |volume=19 |issue= 41 |pages= 4764–72 |year= 2000 |pmid= 11032027 |doi= 10.1038/sj.onc.1203841 |doi-access= free }}
*{{cite journal   |vauthors=Wang LL, Worley K, Gannavarapu A, etal |title=Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. |journal=Am. J. Hum. Genet. |volume=71 |issue= 1 |pages= 165–7 |year= 2002 |pmid= 12016592 |doi=10.1086/341234  | pmc=384974  }}
*{{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 |bibcode=2002PNAS...9916899M |doi-access=free }}
*{{cite journal   |vauthors=Roversi G, Beghini A, Zambruno G, etal |title=Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite. |journal=J. Hum. Genet. |volume=48 |issue= 2 |pages= 107–9 |year= 2003 |pmid= 12601557 |doi= 10.1007/s100380300016 |s2cid=9960752 |doi-access=free }}
*{{cite journal   |vauthors=Wang LL, Gannavarapu A, Clericuzio CL, etal |title=Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. |journal=Am. J. Med. Genet. A |volume=118 |issue= 3 |pages= 299–301 |year= 2004 |pmid= 12673665 |doi= 10.1002/ajmg.a.10057 |s2cid=36023058 }}
*{{cite journal   |vauthors=Beghini A, Castorina P, Roversi G, etal |title=RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. |journal=Am. J. Med. Genet. A |volume=120 |issue= 3 |pages= 395–9 |year= 2004 |pmid= 12838562 |doi= 10.1002/ajmg.a.20154 |s2cid=25885145 }}
*{{cite journal   |vauthors=Siitonen HA, Kopra O, Kääriäinen H, etal |title=Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. |journal=Hum. Mol. Genet. |volume=12 |issue= 21 |pages= 2837–44 |year= 2004 |pmid= 12952869 |doi= 10.1093/hmg/ddg306 |doi-access= free }}
*{{cite journal   |vauthors=Brandenberger R, Wei H, Zhang S, etal |title=Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. |journal=Nat. Biotechnol. |volume=22 |issue= 6 |pages= 707–16 |year= 2005 |pmid= 15146197 |doi= 10.1038/nbt971 |s2cid=27764390 }}
*{{cite journal   |vauthors=Nishijo K, Nakayama T, Aoyama T, etal |title=Mutation analysis of the RECQL4 gene in sporadic osteosarcomas. |journal=Int. J. Cancer |volume=111 |issue= 3 |pages= 367–72 |year= 2004 |pmid= 15221963 |doi= 10.1002/ijc.20269 |s2cid=20389854 |doi-access=free }}
*{{cite journal  | vauthors=Yin J, Kwon YT, Varshavsky A, Wang W |title=RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. |journal=Hum. Mol. Genet. |volume=13 |issue= 20 |pages= 2421–30 |year= 2005 |pmid= 15317757 |doi= 10.1093/hmg/ddh269 |doi-access= free }}
*{{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   |vauthors=Sengupta S, Shimamoto A, Koshiji M, etal |title=Tumor suppressor p53 represses transcription of RECQ4 helicase. |journal=Oncogene |volume=24 |issue= 10 |pages= 1738–48 |year= 2005 |pmid= 15674334 |doi= 10.1038/sj.onc.1208380 |doi-access= free }}
{{refend}}

==External links==
* [https://www.ncbi.nlm.nih.gov/books/NBK1237/  GeneReviews/NCBI/NIH/UW entry on Rothmund-Thomson Syndrome]

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Adapted from the Wikipedia article [RECQL4](https://en.wikipedia.org/wiki/RECQL4) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/RECQL4?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.