宏卫星

宏卫星又称大卫星英語:[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(英語:)。

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
D4Z44, 103.31-150DUX4DBE-TFSHD
DXZ4X350-100NoneX染色体失活
RS44744.720-103USP17
NBL213, 14, 15, 211.4Not determinedNoneTNBLcancer
RNU2176.15-82None
TAF11-Like53.410-98TAF11精神分裂症(可能)
CT47X4.84-17CT47

参见

参考资料

  1. Grabiele, M.; Honfi, A. I.; Cerutti, J. C.; Fernandez, V.; Franco, D.; Daviña, J. R. (PDF). Botanical Studies. 2010.
  2. Dumbovic, G; Forcales, SV; Perucho, M. . Epigenetics. 3 July 2017, 12 (7): 515–526. PMC 5687341可免费查阅. PMID 28426282. doi:10.1080/15592294.2017.1318235.
  3. Wagner, Kathryn R. . 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. . Human Molecular Genetics. 15 October 2012, 21 (20): 4367–77. PMC 3459461可免费查阅. 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. . 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).
  6. Dumbović, Gabrijela; Biayna, Josep; Banús, Jordi; Samuelsson, Johanna; Roth, Anna; Diederichs, Sven; Alonso, Sergio; Buschbeck, Marcus; Perucho, Manuel; Forcales, Sonia-V. . Nucleic Acids Research. 2018-06-20, 46 (11): 5504–5524. ISSN 0305-1048. PMC 6009586可免费查阅. PMID 29912433. doi:10.1093/nar/gky263.


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