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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.
[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."
Macrosatellite repeats
[1]
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
^
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 .