흑색종 관련 콘드로이틴 황산염 프로테오글리칸 (MCSP ) 또는 뉴런-글리알 항원 2 (NG2 )로도 알려진 콘드로이틴 황산염 프로테오글리칸 4 는 인간에서 CSPG4 유전자 에 의해 암호화된 콘드로이틴 프로테오글리칸 이다.[5] [6] [7]
함수 CSPG4는 내피성 지하막 에 퍼지는 흑색종 세포의 초기 사건에서 세포-기질 상호작용을 안정화하는 역할을 한다. 그것은 인간의 악성 흑색종 세포에 의해 표현되는 통합막 콘드로이틴 황산염 프로테오글리칸을 나타낸다.[7]
질병에 대한 영향 CSPG4/NG2는 또한 OPC(Olgodendrocyte progenitor cells )[8] [9] 조현병 유전자의 역할을 연구하는 한 연구팀이 보고한 바에 따르면 CSPG4 유전자에서 희귀한 두 가지 오식 돌연변이 가 가족 내에서 분리되었다( CSPG4 와A131T CSPG4V901G 돌연변이).연구진은 또 CSPG4A131T 돌연변이 운반체의 유도 만능줄기세포 (iPSC)에서 유래한 OPC가 비정상적인 변환 후 처리, 돌연변이 NG2 단백질의 세포하위 국산화, 이상 세포 형태학, 세포 생존성 및 골수화 잠재력 감소를 보였다는 사실을 입증했다. CSPG4A131T 돌연변이 캐리어의 뇌에 대한 생체내 확산 텐서 영상촬영 은 영향을 받지 않은 형제자매와 일치하는 일반 집단 대조군에 비해 백질 무결성이 감소하는 것으로 입증되었다.[10]
참고 항목 참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000173546 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000032911 - 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 .^ Pluschke G, Vanek M, Evans A, Dittmar T, Schmid P, Itin P, Filardo EJ, Reisfeld RA (September 1996). "Molecular cloning of a human melanoma-associated chondroitin sulfate proteoglycan" . Proceedings of the National Academy of Sciences of the United States of America . 93 (18): 9710–5. Bibcode :1996PNAS...93.9710P . doi :10.1073/pnas.93.18.9710 PMC 38494 PMID 8790396 . ^ Luo W, Wang X, Kageshita T, Wakasugi S, Karpf AR, Ferrone S (May 2006). "Regulation of high molecular weight-melanoma associated antigen (HMW-MAA) gene expression by promoter DNA methylation in human melanoma cells" . Oncogene . 25 (20): 2873–84. doi :10.1038/sj.onc.1209319 PMID 16407841 . ^ a b "Entrez Gene: CSPG4 chondroitin sulfate proteoglycan 4" .^ Nishiyama A, Dahlin KJ, Prince JT, Johnstone SR, Stallcup WB (July 1991). "The primary structure of NG2, a novel membrane-spanning proteoglycan" . The Journal of Cell Biology . 114 (2): 359–71. doi :10.1083/jcb.114.2.359 . PMC 2289079 PMID 1906475 . ^ de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PM, Hoencamp E, Bergink V, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA (January 2018). "Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia" . Molecular Psychiatry . 24 (5): 757–771. doi :10.1038/s41380-017-0004-2 . PMC 6755981 PMID 29302076 . ^ de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PM, Hoencamp E, Bergink V, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA (January 2018). "Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia" . Molecular Psychiatry . 24 (5): 757–771. doi :10.1038/s41380-017-0004-2 . PMC 6755981 PMID 29302076 .
추가 읽기 Kirschfink M, Blase L, Engelmann S, Schwartz-Albiez R (February 1997). "Secreted chondroitin sulfate proteoglycan of human B cell lines binds to the complement protein C1q and inhibits complex formation of C1". Journal of Immunology . 158 (3): 1324–31. PMID 9013976 . Iida J, Meijne AM, Oegema TR, Yednock TA, Kovach NL, Furcht LT, McCarthy JB (March 1998). "A role of chondroitin sulfate glycosaminoglycan binding site in alpha4beta1 integrin-mediated melanoma cell adhesion" . The Journal of Biological Chemistry . 273 (10): 5955–62. doi :10.1074/jbc.273.10.5955 PMID 9488735 . Eisenmann KM, McCarthy JB, Simpson MA, Keely PJ, Guan JL, Tachibana K, Lim L, Manser E, Furcht LT, Iida J (December 1999). "Melanoma chondroitin sulphate proteoglycan regulates cell spreading through Cdc42, Ack-1 and p130cas" . Nature Cell Biology . 1 (8): 507–13. doi :10.1038/70302 . PMID 10587647 . S2CID 16876663 . Barritt DS, Pearn MT, Zisch AH, Lee SS, Javier RT, Pasquale EB, Stallcup WB (August 2000). "The multi-PDZ domain protein MUPP1 is a cytoplasmic ligand for the membrane-spanning proteoglycan NG2" . Journal of Cellular Biochemistry . 79 (2): 213–24. doi :10.1002/1097-4644(20001101)79:2<213::AID-JCB50>3.0.CO;2-G . PMC 3501957 PMID 10967549 . Iida J, Pei D, Kang T, Simpson MA, Herlyn M, Furcht LT, McCarthy JB (June 2001). "Melanoma chondroitin sulfate proteoglycan regulates matrix metalloproteinase-dependent human melanoma invasion into type I collagen" . The Journal of Biological Chemistry . 276 (22): 18786–94. doi :10.1074/jbc.M010053200 PMID 11278606 . Staub E, Hinzmann B, Rosenthal A (September 2002). "A novel repeat in the melanoma-associated chondroitin sulfate proteoglycan defines a new protein family" . FEBS Letters . 527 (1–3): 114–8. doi :10.1016/S0014-5793(02)03195-2 PMID 12220645 . Stegmüller J, Werner H, Nave KA, Trotter J (February 2003). "The proteoglycan NG2 is complexed with alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors by the PDZ glutamate receptor interaction protein (GRIP) in glial progenitor cells. Implications for glial-neuronal signaling" . The Journal of Biological Chemistry . 278 (6): 3590–8. doi :10.1074/jbc.M210010200 PMID 12458226 . Legg J, Jensen UB, Broad S, Leigh I, Watt FM (December 2003). "Role of melanoma chondroitin sulphate proteoglycan in patterning stem cells in human interfollicular epidermis" . Development . 130 (24): 6049–63. doi :10.1242/dev.00837 PMID 14573520 . Ghali L, Wong ST, Tidman N, Quinn A, Philpott MP, Leigh IM (February 2004). "Epidermal and hair follicle progenitor cells express melanoma-associated chondroitin sulfate proteoglycan core protein" . The Journal of Investigative Dermatology . 122 (2): 433–42. doi :10.1046/j.0022-202X.2004.22207.x PMID 15009727 . Fukushi J, Makagiansar IT, Stallcup WB (August 2004). "NG2 proteoglycan promotes endothelial cell motility and angiogenesis via engagement of galectin-3 and alpha3beta1 integrin" . Molecular Biology of the Cell . 15 (8): 3580–90. doi :10.1091/mbc.E04-03-0236 . PMC 491820 PMID 15181153 . Yang J, Price MA, Neudauer CL, Wilson C, Ferrone S, Xia H, Iida J, Simpson MA, McCarthy JB (June 2004). "Melanoma chondroitin sulfate proteoglycan enhances FAK and ERK activation by distinct mechanisms" . The Journal of Cell Biology . 165 (6): 881–91. doi :10.1083/jcb.200403174 . PMC 2172406 PMID 15210734 . Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM (July 2004). "Functional proteomics mapping of a human signaling pathway" . Genome Research . 14 (7): 1324–32. doi :10.1101/gr.2334104 . PMC 442148 PMID 15231748 . Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S (September 2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions" . Genome Research . 14 (9): 1711–8. doi :10.1101/gr.2435604 . PMC 515316 PMID 15342556 . Makagiansar IT, Williams S, Dahlin-Huppe K, Fukushi J, Mustelin T, Stallcup WB (December 2004). "Phosphorylation of NG2 proteoglycan by protein kinase C-alpha regulates polarized membrane distribution and cell motility" . The Journal of Biological Chemistry . 279 (53): 55262–70. doi :10.1074/jbc.M411045200 PMID 15504744 . Petrini S, Tessa A, Stallcup WB, Sabatelli P, Pescatori M, Giusti B, Carrozzo R, Verardo M, Bergamin N, Columbaro M, Bernardini C, Merlini L, Pepe G, Bonaldo P, Bertini E (November 2005). "Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency". Molecular and Cellular Neurosciences . 30 (3): 408–17. doi :10.1016/j.mcn.2005.08.005 . PMID 16169245 . S2CID 36610297 . Brekke C, Lundervold A, Enger PØ, Brekken C, Stålsett E, Pedersen TB, Haraldseth O, Krüger PG, Bjerkvig R, Chekenya M (February 2006). "NG2 expression regulates vascular morphology and function in human brain tumours". NeuroImage . 29 (3): 965–76. doi :10.1016/j.neuroimage.2005.08.026 . hdl :1956/2370 PMID 16253523 . S2CID 42026544 . Liu T, Qian WJ, Gritsenko MA, Camp DG, Monroe ME, Moore RJ, Smith RD (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry" . Journal of Proteome Research . 4 (6): 2070–80. doi :10.1021/pr0502065 . PMC 1850943 PMID 16335952 . 외부 링크
