2024年12月25日 · LIG4 (DNA Ligase 4) is a Protein Coding gene. Diseases associated with LIG4 include Lig4 Syndrome and Myeloma, Multiple. Among its related pathways are HIV Life Cycle and Infectious disease. Gene Ontology (GO) annotations related to this gene include ligase activity and DNA ligase activity. An important paralog of this gene is LIG3.

LIG4 is an ATP-dependent DNA ligase. LIG4 uses ATP to adenylate itself and then transfers the AMP group to the 5' phosphate of one DNA end. Nucleophilic attack by the 3' hydroxyl group of a second DNA end and release of AMP yield the ligation product. Adenylation of LIG4 is stimulated by XRCC4 and XLF. [14]

LIG4 syndrome (also known as Ligase IV syndrome) is an extremely rare condition caused by mutations in the DNA Ligase IV (LIG4) gene. Some mutations in this gene are associated with a resistance against multiple myeloma and Severe Combined Immunodeficiency. [1] .

2024年2月10日 · In this study, we identify structural interactions of the NHEJ-specific DNA Ligase IV (Lig4) within the SR complex that prioritize ligation and promote NHEJ fidelity. Mutational analysis...

该基因编码的蛋白质是一种 DNA 连接酶，可在 ATP 依赖性反应中连接双链多聚脱氧核苷酸中的单链断裂。 这种蛋白质对于 V (D) J 重组和通过非同源末端连接 (NHEJ) 进行的 DNA 双链断裂 (DSB) 修复至关重要。 该蛋白与 X 射线修复交叉互补蛋白 4 (XRCC4) 形成复合物，并进一步与 DNA 依赖性蛋白激酶 (DNA-PK) 相互作用。 已知 NHEJ 需要 XRCC4 和 DNA-PK。 该蛋白与 XRCC4 形成的复合物的晶体结构已经解析。 该基因的缺陷是导致 LIG4 综合征的原因。 已经观察到编 …

LIG4 is the catalytic unit of the complex capable of covalently sealing the ends of a DSB, whereas Xrcc4 and XLF do not show catalytic activity and rather play structural role. Both Xrcc4 and XLF form stable dimers by interaction between the head domains and proximal stalk regions (Fig. 2).

High LIG4 expression is associated with less radiosensitivity of nasopharyngeal cancer. DNA Ligase IV is required for efficient localization of XRCC4 and XLF into cell nucleus. Ku-independent, LIGIV-dependent repair pathway exists in human somatic cells.

2020年5月29日 · DNA ligase IV (LIG4) syndrome is an exceptionally rare autosomal recessive disorder that belongs to the group of hereditary diseases associated with impaired DNA damage-response mechanisms.

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Cryo-EM of NHEJ supercomplexes provides insights into DNA repair. DNA ligase IV is essential for V (D)J recombination and DNA double-strand break repair in human precursor lymphocytes.

2016年2月1日 · DNA ligase IV (LIG4) deficiency is an extremely rare autosomal recessive primary immunodeficiency disease caused by the LIG4 mutation. To date, fewer than 30 cases of patients have been reported worldwide. No reversion mutations have been previously identified in LIG4. This study enrolled seven Chinese patients with LIG4 deficiency who ...