에이펙스1
APEX1
DNA-(apurinic 또는 apyrimidinic site) 리아제는 인간에서 APEX1 유전자에 의해 인코딩되는 효소다.
아푸린/아피트리미딘(AP) 사이트("아바스 사이트"라고도 함) 사이트는 자발적 가수분해, DNA 손상 물질 또는 특정 비정상적인 기초를 제거하는 DNA 글리코실라제에 의해 DNA 분자에서 자주 발생한다.AP 사이트는 정상적인 DNA 복제를 막을 수 있는 뮤타겐 전 병변이다.단순한 원핵생물에서 인간에 이르기까지 모든 세포는 그러한 부지를 식별하고 수리하는 시스템을 진화시켜 왔다.등급 II AP 내핵물질은 인산염 백본 5'를 AP 사이트로 분해하여 베이스 절연 보수(BER)라고 알려진 프로세스를 개시한다.APEX 유전자(대체로 APE1, HAP1, APEN)는 인간 세포의 주요 AP 내분비증을 인코딩한다.이 유전자에 대한 스플라이스 변형이 발견되었는데, 모두 같은 단백질을 부호화한다.[5]
상호작용
APEX1은 MUTYH,[6] 플랩 구조별 내과성 1[7] 및 XRCC1과 상호작용하는 것으로 나타났다.[8]
노화
에이펙스1의 결핍은 DNA 손상의 축적을 유발하여 세포 노화와 조기 노화의 특징 모두를 초래한다.[9]이 발견은 DNA 손상이 노화의 주요 원인이라는 이론과 일치한다.[10]
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000100823 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000035960 - 앙상블, 2017년 5월
- ^ "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.
- ^ "Entrez Gene: APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1".
- ^ Parker A, Gu Y, Mahoney W, Lee SH, Singh KK, Lu AL (February 2001). "Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair". The Journal of Biological Chemistry. 276 (8): 5547–55. doi:10.1074/jbc.M008463200. PMID 11092888.
- ^ Dianova II, Bohr VA, Dianov GL (October 2001). "Interaction of human AP endonuclease 1 with flap endonuclease 1 and proliferating cell nuclear antigen involved in long-patch base excision repair". Biochemistry. 40 (42): 12639–44. doi:10.1021/bi011117i. PMID 11601988.
- ^ Vidal AE, Boiteux S, Hickson ID, Radicella JP (November 2001). "XRCC1 coordinates the initial and late stages of DNA abasic site repair through protein-protein interactions". The EMBO Journal. 20 (22): 6530–9. doi:10.1093/emboj/20.22.6530. PMC 125722. PMID 11707423.
- ^ Li M, Yang X, Lu X, Dai N, Zhang S, Cheng Y, et al. (June 2018). "APE1 deficiency promotes cellular senescence and premature aging features". Nucleic Acids Research. 46 (11): 5664–5677. doi:10.1093/nar/gky326. PMC 6009672. PMID 29750271.
- ^ Gensler HL, Bernstein H (September 1981). "DNA damage as the primary cause of aging". The Quarterly Review of Biology. 56 (3): 279–303. doi:10.1086/412317. PMID 7031747.
추가 읽기
- Mol CD, Hosfield DJ, Tainer JA (August 2000). "Abasic site recognition by two apurinic/apyrimidinic endonuclease families in DNA base excision repair: the 3' ends justify the means". Mutation Research. 460 (3–4): 211–29. doi:10.1016/s0921-8777(00)00028-8. PMID 10946230.
- Fritz G (September 2000). "Human APE/Ref-1 protein". The International Journal of Biochemistry & Cell Biology. 32 (9): 925–9. doi:10.1016/S1357-2725(00)00045-5. PMID 11084372.
- Fritz G, Grösch S, Tomicic M, Kaina B (November 2003). "APE/Ref-1 and the mammalian response to genotoxic stress". Toxicology. 193 (1–2): 67–78. doi:10.1016/S0300-483X(03)00290-7. PMID 14599768.
- Tell G, Damante G, Caldwell D, Kelley MR (2005). "The intracellular localization of APE1/Ref-1: more than a passive phenomenon?". Antioxidants & Redox Signaling. 7 (3–4): 367–84. doi:10.1089/ars.2005.7.367. hdl:1805/4802. PMID 15706084.
- Hung RJ, Hall J, Brennan P, Boffetta P (November 2005). "Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review". American Journal of Epidemiology. 162 (10): 925–42. doi:10.1093/aje/kwi318. PMID 16221808.
- Dyrkheeva NS, Khodyreva SN, Lavrik OI (2007). "[Multifunctional human apurinic/apyrimidinic endonuclease 1: the role of additional functions]". Molekuliarnaia Biologiia. 41 (3): 450–66. PMID 17685223.
- Harrison L, Ascione G, Menninger JC, Ward DC, Demple B (December 1992). "Human apurinic endonuclease gene (APE): structure and genomic mapping (chromosome 14q11.2-12)". Human Molecular Genetics. 1 (9): 677–80. doi:10.1093/hmg/1.9.677. PMID 1284593.
- Cheng XB, Bunville J, Patterson TA (January 1992). "Nucleotide sequence of a cDNA for an apurinic/apyrimidinic endonuclease from HeLa cells". Nucleic Acids Research. 20 (2): 370. doi:10.1093/nar/20.2.370. PMC 310384. PMID 1371347.
- Xanthoudakis S, Miao G, Wang F, Pan YC, Curran T (September 1992). "Redox activation of Fos-Jun DNA binding activity is mediated by a DNA repair enzyme". The EMBO Journal. 11 (9): 3323–35. doi:10.1002/j.1460-2075.1992.tb05411.x. PMC 556867. PMID 1380454.
- Zhao B, Grandy DK, Hagerup JM, Magenis RE, Smith L, Chauhan BC, Henner WD (August 1992). "The human gene for apurinic/apyrimidinic endonuclease (HAP1): sequence and localization to chromosome 14 band q12". Nucleic Acids Research. 20 (15): 4097–8. doi:10.1093/nar/20.15.4097. PMC 334100. PMID 1380694.
- Robson CN, Hochhauser D, Craig R, Rack K, Buckle VJ, Hickson ID (September 1992). "Structure of the human DNA repair gene HAP1 and its localisation to chromosome 14q 11.2-12". Nucleic Acids Research. 20 (17): 4417–21. doi:10.1093/nar/20.17.4417. PMC 334166. PMID 1383925.
- Seki S, Hatsushika M, Watanabe S, Akiyama K, Nagao K, Tsutsui K (July 1992). "cDNA cloning, sequencing, expression and possible domain structure of human APEX nuclease homologous to Escherichia coli exonuclease III". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1131 (3): 287–99. doi:10.1016/0167-4781(92)90027-w. PMID 1627644.
- Robson CN, Hickson ID (October 1991). "Isolation of cDNA clones encoding a human apurinic/apyrimidinic endonuclease that corrects DNA repair and mutagenesis defects in E. coli xth (exonuclease III) mutants". Nucleic Acids Research. 19 (20): 5519–23. doi:10.1093/nar/19.20.5519. PMC 328951. PMID 1719477.
- Demple B, Herman T, Chen DS (December 1991). "Cloning and expression of APE, the cDNA encoding the major human apurinic endonuclease: definition of a family of DNA repair enzymes". Proceedings of the National Academy of Sciences of the United States of America. 88 (24): 11450–4. Bibcode:1991PNAS...8811450D. doi:10.1073/pnas.88.24.11450. PMC 53153. PMID 1722334.
- Okazaki T, Chung U, Nishishita T, Ebisu S, Usuda S, Mishiro S, Xanthoudakis S, Igarashi T, Ogata E (November 1994). "A redox factor protein, ref1, is involved in negative gene regulation by extracellular calcium". The Journal of Biological Chemistry. 269 (45): 27855–62. doi:10.1016/S0021-9258(18)46865-2. PMID 7961715.
- Akiyama K, Seki S, Oshida T, Yoshida MC (September 1994). "Structure, promoter analysis and chromosomal assignment of the human APEX gene". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1219 (1): 15–25. doi:10.1016/0167-4781(94)90241-0. PMID 8086453.
- Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (April 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
- Chung U, Igarashi T, Nishishita T, Iwanari H, Iwamatsu A, Suwa A, Mimori T, Hata K, Ebisu S, Ogata E, Fujita T, Okazaki T (April 1996). "The interaction between Ku antigen and REF1 protein mediates negative gene regulation by extracellular calcium". The Journal of Biological Chemistry. 271 (15): 8593–8. doi:10.1074/jbc.271.15.8593. PMID 8621488.
- Rothwell DG, Hickson ID (November 1996). "Asparagine 212 is essential for abasic site recognition by the human DNA repair endonuclease HAP1". Nucleic Acids Research. 24 (21): 4217–21. doi:10.1093/nar/24.21.4217. PMC 146231. PMID 8932375.
- Izumi T, Henner WD, Mitra S (November 1996). "Negative regulation of the major human AP-endonuclease, a multifunctional protein". Biochemistry. 35 (47): 14679–83. doi:10.1021/bi961995u. PMID 8942627.
외부 링크
- UCSC 게놈 브라우저의 인간 APEX1 게놈 위치 및 APEX1 유전자 세부 정보 페이지.
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