Macrosatellite Explained
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] [4] [5] although RS447 is also commonly referred to as a "megasatellite."
Macrosatellite repeats| Name | Chromosome | Repeat size (kbp) | Repeat number | | | 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 | | | |
| 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 | | | possibly schizophrenia |
| CT47 | X | 4.8 | 4-17 | CT47 | | | |
See also
Notes and References
- 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 . 10.1080/15592294.2017.1318235 . 28426282. 5687341 .
- Wagner . Kathryn R. . 208531681 . Facioscapulohumeral Muscular Dystrophies . CONTINUUM: Lifelong Learning in Neurology . December 2019 . 25 . 6 . 1662–1681 . 10.1212/CON.0000000000000801. 31794465 .
- 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 . 10.1093/hmg/dds270 . 22791747. 3459461 .
- 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. en. 17. 4. 234–244. 10.1002/(SICI)1098-2264(199612)17:4<234::AID-GCC5>3.0.CO;2-4. 8946205. 30585909 . 1098-2264.
- 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. 10.1093/nar/gky263. 0305-1048. 6009586. 29912433.
