LIG1 Gene

Last updated on: 20.06.2022

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DefinitionThis section has been translated automatically.

The LIG1 gene (LIG1 stands for "DNA ligase 1") is a protein-coding gene located on chromosome 19q13.33. Alternative splicing results in multiple transcript variants. Mutations in this gene leading to a deficiency of DNA ligase I result in immunodeficiency and increased sensitivity to DNA-damaging substances.

General informationThis section has been translated automatically.

The LIG1 gene encodes a member of the ATP-dependent DNA ligase protein family. Ligases are enzymes that catalyze the joining of two molecules with simultaneous hydrolysis of the diphosphate bond in ATP or a similar triphosphate. They belong to the class of E.C. 6 enzymes, which also includes synthases and carboxylases.

The encoded enzyme has functions in DNA replication, recombination, and base excision repair.

Clinical pictureThis section has been translated automatically.

Diseases associated with LIG1 include.

  • Immunodeficiency 96
  • and
  • Bloom syndrome.
  • The rs156641 polymorphism in the LIG1 gene appears to be associated with an increased risk of lung cancer (Li D et al. 2015)

LiteratureThis section has been translated automatically.

  1. Barnes DE et al. (1992) Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. Cell 69: 495-503.
  2. Bentley DJ et al.(2002) DNA ligase I null mouse cells show normal DNA repair activity but altered DNA replication and reduced genome stability. J Cell Sci 115: 1551-1561.
  3. Bentley DJ et al. (1996) DNA ligase I is required for fetal liver erythropoiesis but is not essential for mammalian cell viability. Nature Genet 13: 489-491.
  4. Li D et al. (2015) Association Between the LIG1 Polymorphisms and Lung Cancer Risk: A Meta-analysis of Case-Control Studies. Cell Biochem Biophys 73:381-387.
  5. Maffucci P et al (2018) Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies. J Clin Invest 128: 5489-5504.
  6. Webster ADB et al.(1992) Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene. Lancet 339: 1508-1509.

Last updated on: 20.06.2022