Macrosatellite
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
- 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. PMC 5687341. 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. S2CID 208531681.
- 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. PMC 3459461. PMID 22791747.
- Thoraval, Didier; Asakawa, Jun-ichi; Wimmer, Katharina; Kuick, Rork; Lamb, Barbara; Richardson, Bruce; Ambros, Peter; Glover, Thomas; Hanash, Samir (1996). "Demethylation of repetitive DNA sequences in neuroblastoma". 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. S2CID 30585909.
- Dumbović, Gabrijela; Biayna, Josep; Banús, Jordi; Samuelsson, Johanna; Roth, Anna; Diederichs, Sven; Alonso, Sergio; Buschbeck, Marcus; Perucho, Manuel; Forcales, Sonia-V (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. PMC 6009586. PMID 29912433.
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