In genetics, macrosatellites are the largest of the tandem repeats within DNA. Each macrosatellite repeat typically is several thousand base pairs 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
editReferences
edit- ^ a b c 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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