宏衛星
宏衛星又稱大衛星（英語：Macrosatellites）[1]是DNA串聯重複序列中較大型的一類。每個宏衛星通常長為幾千個鹼基，整個重複陣列通常跨越數十萬鹼基。[2]4號常染色體上的D4Z4重複減少會導致相關DNA發生真染色質化，是面肩胛肱型肌營養不良症（FSHD）的主要病因。[3] 其它的宏衛星包括RS447、NBL2以及DXZ4，[4][2][5][6]RS447也被稱為巨衛星（英語：megasatellite）。
| 名稱 | 染色體 | 長度 (kbp) | 重複數 | 編碼基因 | 非編碼DNA | 相關疾病 |
|---|---|---|---|---|---|---|
| D4Z4 | 4, 10 | 3.3 | 1-150 | DUX4 | DBE-T | FSHD |
| DXZ4 | X | 3 | 50-100 | None | X染色體失活 | |
| 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 |
參見
[編輯]參考資料
[編輯]- ^ 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]. （原始內容存檔 (PDF)於2024-03-08）.
- ^ 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 [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. （原始內容存檔於2023-12-25） （英語）.
- ^ 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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