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.{{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 }} Reduced number of repeats on chromosome 4 (D4Z4 repeats) causes euchromatization of local DNA and is the predominant cause of facioscapulohumeral muscular dystrophy (FSHD).{{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 }} Other macrosatellites are RS447, NBL2 and DXZ4,{{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 }}{{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}}{{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}} although RS447 is also commonly referred to as a "megasatellite."