RECQL4

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Protein-coding gene in the species Homo sapiens

title: "RECQL4" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public description: "Protein-coding gene in the species Homo sapiens" topic_path: "uncategorized" source: "https://en.wikipedia.org/wiki/RECQL4" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0

::summary Protein-coding gene in the species Homo sapiens ::

ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the RECQL4 gene.

Mutations in RECQL4 are associated with the autosomal recessive disease Rothmund–Thomson syndrome, a disorder that has features of premature aging. In addition to the Rothmund–Thomson syndrome, RECQL4 mutations are also associated with RAPADILINO and Baller–Gerold syndromes. 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 (malignant tumor of the bone). RECQL4 gets its 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.

DNA repair

Double-strand breaks in DNA are potentially lethal to a cell and need to be repaired. Repair of double-strand breaks by 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. When RECQL4 is deficient, end resection, and thus HR, is reduced. Evidence suggests that other forms of DNA repair including non-homologous end joining, nucleotide excision repair and base excision repair also depend on RECQL4 function. 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.

References

References

  1. (Feb 1999). "Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes". Genomics.
  2. (Jun 2005). "Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome". Cell.
  3. "Entrez Gene: RECQL4 RecQ protein-like 4".
  4. (2014). "Senescence induced by RECQL4 dysfunction contributes to Rothmund–Thomson syndrome features in mice". Cell Death Dis.
  5. (2017). "Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders". Ageing Res. Rev..
  6. (2014). "RECQ helicase RECQL4 participates in non-homologous end joining and interacts with the Ku complex". Carcinogenesis.
  7. (2003). "Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.". J. Natl. Cancer Inst..
  8. (2000). "Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.". Genomics.
  9. (2016). "RECQL4 Promotes DNA End Resection in Repair of DNA Double-Strand Breaks". Cell Rep.

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