Macrosatellite

{{Short description|Repeating segment of DNA (thousands of base pairs)}}

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.<ref name="Dumbovic2017Review">{{cite journal |last1=Dumbovic |first1=G |last2=Forcales |first2=SV |last3=Perucho |first3=M |title=Emerging roles of macrosatellite repeats in genome organization and disease development. |journal=Epigenetics |date=3 July 2017 |volume=12 |issue=7 |pages=515–526 |doi=10.1080/15592294.2017.1318235 |pmid=28426282|pmc=5687341 }}</ref> Reduced number of repeats on chromosome 4 (D4Z4 repeats) causes euchromatization of local DNA and is the predominant cause of facioscapulohumeral muscular dystrophy (FSHD).<ref name="Wagner2019Review">{{cite journal |last1=Wagner |first1=Kathryn R. |s2cid=208531681 |title=Facioscapulohumeral Muscular Dystrophies |journal=CONTINUUM: Lifelong Learning in Neurology |date=December 2019 |volume=25 |issue=6 |pages=1662–1681 |doi=10.1212/CON.0000000000000801|pmid=31794465 }}</ref> Other macrosatellites are RS447, NBL2 and DXZ4,<ref>{{cite journal |last1=Horakova |first1=AH |last2=Moseley |first2=SC |last3=McLaughlin |first3=CR |last4=Tremblay |first4=DC |last5=Chadwick |first5=BP |title=The macrosatellite DXZ4 mediates CTCF-dependent long-range intrachromosomal interactions on the human inactive X chromosome. |journal=Human Molecular Genetics |date=15 October 2012 |volume=21 |issue=20 |pages=4367–77 |doi=10.1093/hmg/dds270 |pmid=22791747|pmc=3459461 }}</ref><ref name="Dumbovic2017Review" /><ref>{{Cite journal|last1=Thoraval|first1=Didier|last2=Asakawa|first2=Jun-ichi|last3=Wimmer|first3=Katharina|last4=Kuick|first4=Rork|last5=Lamb|first5=Barbara|last6=Richardson|first6=Bruce|last7=Ambros|first7=Peter|last8=Glover|first8=Thomas|last9=Hanash|first9=Samir|date=1996|title=Demethylation of repetitive DNA sequences in neuroblastoma|url=https://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291098-2264%28199612%2917%3A4%3C234%3A%3AAID-GCC5%3E3.0.CO%3B2-4|journal=Genes, Chromosomes and Cancer|language=en|volume=17|issue=4|pages=234–244|doi=10.1002/(SICI)1098-2264(199612)17:4<234::AID-GCC5>3.0.CO;2-4|pmid=8946205|s2cid=30585909 |issn=1098-2264|url-access=subscription}}</ref><ref>{{Cite journal|last1=Dumbović|first1=Gabrijela|last2=Biayna|first2=Josep|last3=Banús|first3=Jordi|last4=Samuelsson|first4=Johanna|last5=Roth|first5=Anna|last6=Diederichs|first6=Sven|last7=Alonso|first7=Sergio|last8=Buschbeck|first8=Marcus|last9=Perucho|first9=Manuel|last10=Forcales|first10=Sonia-V|date=2018-06-20|title=A novel long non-coding RNA from NBL2 pericentromeric macrosatellite forms a perinucleolar aggregate structure in colon cancer|url= |journal=Nucleic Acids Research|volume=46|issue=11|pages=5504–5524|doi=10.1093/nar/gky263|issn=0305-1048|pmc=6009586|pmid=29912433}}</ref> although RS447 is also commonly referred to as a "megasatellite."

{| class="wikitable sortable" |+ Macrosatellite repeats<ref name="Dumbovic2017Review" /> |- ! 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== * Microsatellite * Minisatellite * Satellite DNA

==References== {{reflist}}

Category:Genetics Category:Repetitive DNA sequences