SOX18
Transkripsiyon faktörü SOX18 SOX18 geni tarafından kodlanan bir proteindir.[1][2]
İşlevi
Bu gen, embriyonik gelişimin düzenlenmesinde ve hücre akıbetinin belirlenmesinde rol alan SOX (SRY ile ilişkili HMG kutusu) ailesinin bir kopyalama faktörleri üyesini kodlar. Kodlanan protein, diğer proteinlerle bir protein kompleksi oluşturduktan sonra bir transkripsiyon düzenleyici olarak iş görebilir. Bu protein saç, kan damarı ve lenfatik damar gelişiminde rol oynar. Bu gendeki mutasyonlar hipotrikoz - lenfödem - telanjiektazinin (HLTS) resesif ve dominant formları ile ilişkilendirilmiştir.[2][3] Bu genin baskın mutasyon kesilmesi de otozomal da durum böbrek yetmezliği ile ilişkilidir hipotrikoz - lenfödem - telanjiektazi - renal kusur sendromu (HLTRS).[4][5]
Etkileşimler
SOX18'in MEF2C ile etkileşim kurduğu gösterilmiştir.[6]
Ayrıca bakınız
- SOX genleri
Konuyla ilgili yayınlar
- Wilson M, Koopman P (August 2002). "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators". Current Opinion in Genetics & Development. 12 (4): 441-6. doi:10.1016/S0959-437X(02)00323-4. PMID 12100890.
- Schepers GE, Teasdale RD, Koopman P (August 2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Developmental Cell. 3 (2): 167-70. doi:10.1016/S1534-5807(02)00223-X. PMID 12194848.
- Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A (June 1992). "A conserved family of genes related to the testis determining gene, SRY". Nucleic Acids Research. 20 (11): 2887. doi:10.1093/nar/20.11.2887. PMC 336939 $2. PMID 1614875.
- Dunn TL, Mynett-Johnson L, Wright EM, Hosking BM, Koopman PA, Muscat GE (August 1995). "Sequence and expression of Sox-18 encoding a new HMG-box transcription factor". Gene. 161 (2): 223-5. doi:10.1016/0378-1119(95)00280-J. PMID 7665083.
- Stanojcić S, Stevanović M (June 2000). "The human SOX18 gene: cDNA cloning and high resolution mapping". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1492 (1): 237-41. doi:10.1016/s0167-4781(00)00078-6. PMID 10858556.
- Pennisi DJ, James KM, Hosking B, Muscat GE, Koopman P (December 2000). "Structure, mapping, and expression of human SOX18". Mammalian Genome. 11 (12): 1147-9. doi:10.1007/s003350010216. PMID 11130989.
- Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE (September 2001). "SOX18 directly interacts with MEF2C in endothelial cells". Biochemical and Biophysical Research Communications. 287 (2): 493-500. doi:10.1006/bbrc.2001.5589. PMID 11554755.
- Dintilhac A, Bernués J (March 2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". The Journal of Biological Chemistry. 277 (9): 7021-8. doi:10.1074/jbc.M108417200
. PMID 11748221. - Saitoh T, Katoh M (September 2002). "Expression of human SOX18 in normal tissues and tumors". International Journal of Molecular Medicine. 10 (3): 339-44. doi:10.3892/ijmm.10.3.339. PMID 12165811.
- Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns JP, Van Steensel MA, Vikkula M (June 2003). "Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia". American Journal of Human Genetics. 72 (6): 1470-8. doi:10.1086/375614. PMC 1180307 $2. PMID 12740761.
- García-Ramírez M, Martínez-González J, Juan-Babot JO, Rodríguez C, Badimon L (November 2005). "Transcription factor SOX18 is expressed in human coronary atherosclerotic lesions and regulates DNA synthesis and vascular cell growth". Arteriosclerosis, Thrombosis, and Vascular Biology. 25 (11): 2398-403. doi:10.1161/01.ATV.0000187464.81959.23 . PMID 16179596.
- Young N, Hahn CN, Poh A, Dong C, Wilhelm D, Olsson J, Muscat GE, Parsons P, Gamble JR, Koopman P (August 2006). "Effect of disrupted SOX18 transcription factor function on tumor growth, vascularization, and endothelial development". Journal of the National Cancer Institute. 98 (15): 1060-7. doi:10.1093/jnci/djj299 . PMID 16882943.
- Olbromski M, Podhorska-Okołów M, Dzięgiel P. (2018). "Role of the SOX18 protein in neoplastic processes". Oncology Letters. 16 (2): 1383-89. doi:10.3892/ol.2018.8819. PMC 6036441 $2. PMID 30008814.
Dış bağlantılar
Bu makale, kamu malı olan Birleşik Devletler Ulusal Tıp Kütüphanesi'nden alınan metni içermektedir.
Kaynakça
- ^ "cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18". Journal of Human Genetics. 45 (3): 192-5. July 2000. doi:10.1007/s100380050210. PMID 10807548.
- ^ a b "Entrez Gene: SO X18 SRY (sex determining region Y)-box 18". 2 Kasım 2008 tarihinde kaynağından arşivlendi.
- ^ "Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS)". European Journal of Medical Genetics. 61 (5): 269-272. May 2018. doi:10.1016/j.ejmg.2018.01.001. PMID 29307792.
- ^ "Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene". Clinical Genetics. 87 (4): 378-82. April 2015. doi:10.1111/cge.12388. PMID 24697860.
- ^ "Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome". The University of Arizona Health Sciences. 9 Ekim 2015 tarihinde kaynağından arşivlendi.
- ^ "SOX18 directly interacts with MEF2C in endothelial cells". Biochemical and Biophysical Research Communications. 287 (2): 493-500. September 2001. doi:10.1006/bbrc.2001.5589. PMID 11554755.
