GDF5
GDF5
성장/차별화 인자 5는 인간에게 GDF5 유전자에 의해 암호화된 단백질이다.[5][6][7]
이 유전자에 의해 인코딩된 단백질은 골형성 단백질(BMP) 계열과 밀접한 관계가 있으며 TGF-베타 슈퍼패밀리의 일원이다.이 단백질군은 다기성 단백질 분해 처리장으로서 7개의 보존된 사이스테인 잔류물을 함유한 성숙한 단백질을 생성하기 위해 분해된다.이 가족의 구성원들은 배아 조직과 성인 조직에서 세포 성장과 분화의 규제자들이다.이 유전자의 돌연변이는 아크로메소멜론성 이형성증, 헌터 톰슨형, 브라키드락시, 타입 C; 그리고 골수콘드로디스플라스아, 그레베형과 연관되어 있다.이러한 연관성들은 유전자 생산물이 골격 발달에 역할을 한다는 것을 확인시켜 준다.[7]
성장분화인자5(GDF5)는 성장인자 베타 슈퍼패밀리에 속하는 단백질로, 발달 중인 중추신경계에서 발현되며 [8]골격과 관절발달에 역할을 한다.[9][10][11]또한 신경전달물질 도파민에 반응하는 뉴론의 생존을 증가시키며, 파킨슨병과 연관된 잠재적 치료 분자다.[12]
참고 항목
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000125965 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000038259 - 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.
- ^ Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML (Oct 1997). "Mutations in CDMP1 cause autosomal dominant brachydactyly type C". Nat Genet. 17 (1): 18–9. doi:10.1038/ng0997-18. hdl:2066/24464. PMID 9288091. S2CID 6580906.
- ^ Thomas JT, Kilpatrick MW, Lin K, Erlacher L, Lembessis P, Costa T, Tsipouras P, Luyten FP (Oct 1997). "Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1". Nat Genet. 17 (1): 58–64. doi:10.1038/ng0997-58. PMID 9288098. S2CID 31479619.
- ^ a b "Entrez Gene: GDF5 growth differentiation factor 5 (cartilage-derived morphogenetic protein-1)".
- ^ O'Keeffe G, Dockery P, Sullivan A (2004). "Effects of growth/differentiation factor 5 on the survival and morphology of embryonic rat midbrain dopaminergic neurones in vitro". J Neurocytol. 33 (5): 479–88. doi:10.1007/s11068-004-0511-y. PMID 15906156. S2CID 25940876.
- ^ Buxton P, Edwards C, Archer C, Francis-West P (2001). "Growth/differentiation factor-5 (GDF-5) and skeletal development". J Bone Joint Surg Am. 83-A Suppl 1 (Pt 1): S23–30. PMID 11263662.
- ^ Francis-West P, Abdelfattah A, Chen P, Allen C, Parish J, Ladher R, Allen S, MacPherson S, Luyten F, Archer C (1999). "Mechanisms of GDF-5 action during skeletal development". Development. 126 (6): 1305–15. doi:10.1242/dev.126.6.1305. PMID 10021348.
- ^ Francis-West P, Parish J, Lee K, Archer C (1999). "BMP/GDF-signalling interactions during synovial joint development". Cell Tissue Res. 296 (1): 111–9. doi:10.1007/s004410051272. PMID 10199971. S2CID 21942870.
- ^ Sullivan A, O'Keeffe G (2005). "The role of growth/differentiation factor 5 (GDF5) in the induction and survival of midbrain dopaminergic neurones: relevance to Parkinson's disease treatment". J Anat. 207 (3): 219–26. doi:10.1111/j.1469-7580.2005.00447.x. PMC 1571542. PMID 16185246.
추가 읽기
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- Luyten FP (1998). "Cartilage-derived morphogenetic protein-1". Int. J. Biochem. Cell Biol. 29 (11): 1241–4. doi:10.1016/S1357-2725(97)00025-3. PMID 9451821.
- Ducy P, Karsenty G (2000). "The family of bone morphogenetic proteins". Kidney Int. 57 (6): 2207–14. doi:10.1046/j.1523-1755.2000.00081.x. PMID 10844590.
- Faiyaz-Ul-Haque M, Ahmad W, Wahab A, et al. (2003). "Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia". American Journal of Medical Genetics. 111 (1): 31–7. doi:10.1002/ajmg.10501. PMID 12124730.
- Chang SC, Hoang B, Thomas JT, et al. (1994). "Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development". J. Biol. Chem. 269 (45): 28227–34. doi:10.1016/S0021-9258(18)46918-9. PMID 7961761.
- Hötten G, Neidhardt H, Jacobowsky B, Pohl J (1994). "Cloning and expression of recombinant human growth/differentiation factor 5". Biochem. Biophys. Res. Commun. 204 (2): 646–52. doi:10.1006/bbrc.1994.2508. PMID 7980526.
- Thomas JT, Lin K, Nandedkar M, et al. (1996). "A human chondrodysplasia due to a mutation in a TGF-beta superfamily member". Nat. Genet. 12 (3): 315–7. doi:10.1038/ng0396-315. PMID 8589725. S2CID 43140478.
- Lin K, Thomas JT, McBride OW, Luyten FP (1996). "Assignment of a new TGF-beta superfamily member, human cartilage-derived morphogenetic protein-1, to chromosome 20q11.2". Genomics. 34 (1): 150–1. doi:10.1006/geno.1996.0257. PMID 8661040.
- Nishitoh H, Ichijo H, Kimura M, et al. (1996). "Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5". J. Biol. Chem. 271 (35): 21345–52. doi:10.1074/jbc.271.35.21345. PMID 8702914.
- Erlacher L, McCartney J, Piek E, et al. (1998). "Cartilage-derived morphogenetic proteins and osteogenic protein-1 differentially regulate osteogenesis". J. Bone Miner. Res. 13 (3): 383–92. doi:10.1359/jbmr.1998.13.3.383. PMID 9525338. S2CID 25307046.
- Sugiura T, Hötten G, Kawai S (1999). "Minimal promoter components of the human growth/differentiation factor-5 gene". Biochem. Biophys. Res. Commun. 263 (3): 707–13. doi:10.1006/bbrc.1999.1445. PMID 10512744.
- Aoki H, Fujii M, Imamura T, et al. (2001). "Synergistic effects of different bone morphogenetic protein type I receptors on alkaline phosphatase induction". J. Cell Sci. 114 (Pt 8): 1483–9. doi:10.1242/jcs.114.8.1483. PMID 11282024.
- Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
- Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, et al. (2003). "Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)". Clin. Genet. 61 (6): 454–8. doi:10.1034/j.1399-0004.2002.610610.x. PMID 12121354. S2CID 28701236.
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