宏卫星又称大卫星(英语:Macrosatellites[1]是DNA串联重复序列中较大型的一类。每个宏卫星通常长为几千个碱基,整个重复阵列通常跨越数十万碱基。[2]4号常染色体上的D4Z4重复减少会导致相关DNA发生真染色质化,是面肩胛肱型肌营养不良症(FSHD)的主要病因。[3] 其它的宏卫星包括RS447、NBL2以及DXZ4英语DXZ4[4][2][5][6]RS447也被称为巨卫星(英语:megasatellite)。

宏卫星重复序列[2]
名称 染色体 长度 (kbp) 重复数 编码基因 非编码DNA 相关疾病
D4Z4 4, 10 3.3 1-150 DUX4 DBE-T FSHD
DXZ4 X 3 50-100 None X染色体失活
RS447 4 4.7 20-103 USP17英语Deubiquitinating enzyme
NBL2 13, 14, 15, 21 1.4 Not determined None TNBL cancer
RNU2 17 6.1 5-82 None
TAF11-Like 5 3.4 10-98 TAF11英语TAF11 精神分裂症(可能)
CT47 X 4.8 4-17 CT47

参见

参考资料

  1. ^ Grabiele, M.; Honfi, A. I.; Cerutti, J. C.; Fernandez, V.; Franco, D.; Daviña, J. R. Cytogenetic analysis in the terrestrial orchid Sacoila argentina (Griseb.) Garay from Paraguay (PDF). Botanical Studies. 2010 [2024-03-07]. (原始内容存档 (PDF)于2024-03-08). 
  2. ^ 2.0 2.1 2.2 Dumbovic, G; Forcales, SV; Perucho, M. Emerging roles of macrosatellite repeats in genome organization and disease development.. Epigenetics. 3 July 2017, 12 (7): 515–526. PMC 5687341 . PMID 28426282. doi:10.1080/15592294.2017.1318235. 
  3. ^ Wagner, Kathryn R. Facioscapulohumeral Muscular Dystrophies. CONTINUUM: Lifelong Learning in Neurology. December 2019, 25 (6): 1662–1681. PMID 31794465. S2CID 208531681. doi:10.1212/CON.0000000000000801. 
  4. ^ Horakova, AH; Moseley, SC; McLaughlin, CR; Tremblay, DC; Chadwick, BP. The macrosatellite DXZ4 mediates CTCF-dependent long-range intrachromosomal interactions on the human inactive X chromosome.. Human Molecular Genetics. 15 October 2012, 21 (20): 4367–77. PMC 3459461 . PMID 22791747. doi:10.1093/hmg/dds270. 
  5. ^ Thoraval, Didier; Asakawa, Jun-ichi; Wimmer, Katharina; Kuick, Rork; Lamb, Barbara; Richardson, Bruce; Ambros, Peter; Glover, Thomas; Hanash, Samir. Demethylation of repetitive DNA sequences in neuroblastoma. Genes, Chromosomes and Cancer. 1996, 17 (4): 234–244 [2024-03-07]. ISSN 1098-2264. PMID 8946205. S2CID 30585909. doi:10.1002/(SICI)1098-2264(199612)17:4<234::AID-GCC5>3.0.CO;2-4. (原始内容存档于2023-12-25) (英语). 
  6. ^ Dumbović, Gabrijela; Biayna, Josep; Banús, Jordi; Samuelsson, Johanna; Roth, Anna; Diederichs, Sven; Alonso, Sergio; Buschbeck, Marcus; Perucho, Manuel; Forcales, Sonia-V. A novel long non-coding RNA from NBL2 pericentromeric macrosatellite forms a perinucleolar aggregate structure in colon cancer. Nucleic Acids Research. 2018-06-20, 46 (11): 5504–5524. ISSN 0305-1048. PMC 6009586 . PMID 29912433. doi:10.1093/nar/gky263.