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（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

• 微卫星
• 小卫星
• 卫星DNA

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. 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.