Biology:Macrosatellite
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Short description: Segment of DNA
Macrosatellites are the largest of the tandem DNA repeats. Each macrosatellite repeat typically is several kilobases in length, and the entire repeat array often spans hundreds of kilobases.[1] Reduced number of repeats on chromosome 4 (D4Z4 repeats) causes euchromatization of local DNA and is the predominant cause of facioscapulohumeral muscular dystrophy (FSHD).[2] Other macrosatellites are RS447, NBL2 and DXZ4,[3][1][4][5] although RS447 is also commonly referred to as a "megasatellite."
| Name | Chromosome | Repeat size (kbp) | Repeat number | Encoded genes | Non-coding RNA | Clinical relevance |
|---|---|---|---|---|---|---|
| D4Z4 | 4, 10 | 3.3 | 1-150 | DUX4 | DBE-T | FSHD |
| DXZ4 | X | 3 | 50-100 | None | X-inactivation | |
| 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 | possibly schizophrenia | |
| CT47 | X | 4.8 | 4-17 | CT47 |
See also
References
- ↑ 1.0 1.1 1.2 Dumbovic, G; Forcales, SV; Perucho, M (3 July 2017). "Emerging roles of macrosatellite repeats in genome organization and disease development.". Epigenetics 12 (7): 515–526. doi:10.1080/15592294.2017.1318235. PMID 28426282.
- ↑ Wagner, Kathryn R. (December 2019). "Facioscapulohumeral Muscular Dystrophies". CONTINUUM: Lifelong Learning in Neurology 25 (6): 1662–1681. doi:10.1212/CON.0000000000000801. PMID 31794465.
- ↑ Horakova, AH; Moseley, SC; McLaughlin, CR; Tremblay, DC; Chadwick, BP (15 October 2012). "The macrosatellite DXZ4 mediates CTCF-dependent long-range intrachromosomal interactions on the human inactive X chromosome.". Human Molecular Genetics 21 (20): 4367–77. doi:10.1093/hmg/dds270. PMID 22791747.
- ↑ Thoraval, Didier; Asakawa, Jun-ichi; Wimmer, Katharina; Kuick, Rork; Lamb, Barbara; Richardson, Bruce; Ambros, Peter; Glover, Thomas et al. (1996). "Demethylation of repetitive DNA sequences in neuroblastoma" (in en). Genes, Chromosomes and Cancer 17 (4): 234–244. doi:10.1002/(SICI)1098-2264(199612)17:4<234::AID-GCC5>3.0.CO;2-4. ISSN 1098-2264. PMID 8946205. https://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291098-2264%28199612%2917%3A4%3C234%3A%3AAID-GCC5%3E3.0.CO%3B2-4.
- ↑ Dumbović, Gabrijela; Biayna, Josep; Banús, Jordi; Samuelsson, Johanna; Roth, Anna; Diederichs, Sven; Alonso, Sergio; Buschbeck, Marcus et al. (2018-06-20). "A novel long non-coding RNA from NBL2 pericentromeric macrosatellite forms a perinucleolar aggregate structure in colon cancer". Nucleic Acids Research 46 (11): 5504–5524. doi:10.1093/nar/gky263. ISSN 0305-1048. PMID 29912433.
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