宏卫星
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，[4][2][5][6]RS447也被称为巨卫星（英语：megasatellite）。
| 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 | ||
| 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 | 精神分裂症（可能） | |
| CT47 | X | 4.8 | 4-17 | CT47 |
参见 编辑
参考资料 编辑
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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. ISSN 1098-2264. PMID 8946205. S2CID 30585909. doi:10.1002/(SICI)1098-2264(199612)17:4<234::AID-GCC5>3.0.CO;2-4 （英语）.
- ^ 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.
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