MICRO-SATELLITE DNA ASSOCIATE WITH DISEASES AND CANCERS

Hozan I. Ibrahim Rwandzy; Hazha Jamal Hidayat                                                                                                                      Hazha Jamal Hidayat; Seerwan Hamadameen Sulaiman

doi:10.25212/lfu.qzj.9.1.52

Authors

Hozan I. Ibrahim Rwandzy Medical Laboratory Science Department, Health Science College, Lebanese French University Erbil, Kurdistan Region Iraq
Hazha Jamal Hidayat Hazha Jamal Hidayat Biology Department, Education College, Salahaddin University, Erbil, Kurdistan Region Iraq.
Seerwan Hamadameen Sulaiman Medical Laboratory Science Department, Health Science College, Lebanese French University, Erbil, Kurdistan Region Iraq

DOI:

https://doi.org/10.25212/lfu.qzj.9.1.52

Keywords:

Genomic organization, Noncoding region, DNA repeats, Satellite DNA, Microsatellites, Genetic disease, Cancer

Abstract

Most of the human genome is comprised of non-coding DNA. Satellite DNA (satDNA) is a non-coding region, and it is one of the DNA types that contains repeated sequences. Microsatellite (MS) DNA is one of the satDNAs. MS has a tiny percentage of satellite DNA, and several repeat sequences of it have been identified as significant participants in genome structure. MS is correlated with frequent mutations, epigenetic alterations, and changes in gene expression. MS may significantly affect phenotypes. Many genetic diseases and cancer forms have microsatellite instability, which is a significant feature. The context of disease-focused research for many types of mental disabilities has shifted because of the revelation that the expansion of unstable repeats can induce a range of neurological diseases and cancers. This review’s goal is to summarize how MS affects humans through genetic disorders, neurological diseases, developmental disorders, and cancers.

Downloads

Download data is not yet available.

References

Abecasis, G., Auton, A., Brooks, L., DePristo, M., Durbin, R., & Handsaker, R. (2012). An integrated map of genetic variation from 1,092 human genomes. Nature [Internet]. In: Nature Publishing Group, a division of Macmillan Publishers Limited. All ….

Antwi-Boasiako, C., Dzudzor, B., Kudzi, W., Doku, A., Dale, C. A., Sey, F., . . . Ahenkorah, J. (2018). Association between eNOS gene polymorphism (T786C and VNTR) and sickle cell disease patients in Ghana. Diseases, 6(4), 90.

Ashizawa, T., Öz, G., & Paulson, H. L. (2018). Spinocerebellar ataxias: prospects and challenges for therapy development. Nature Reviews Neurology, 14(10), 590-605.

Biscotti, M. A., Olmo, E., & Heslop-Harrison, J. (2015). Repetitive DNA in eukaryotic genomes. Chromosome Research, 23, 415-420.

Bowen, N. J., & Jordan, I. K. (2002). Transposable elements and the evolution of eukaryotic complexity. Current issues in molecular biology, 4(3), 65-76.

Breza, M., & Koutsis, G. (2019). Kennedy’s disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease. Journal of neurology, 266(3), 565-573.

Carroll, L. S., Massey, T. H., Wardle, M., & Peall, K. J. (2018). Dentatorubral-pallidoluysian atrophy: an update. Tremor and Other Hyperkinetic Movements, 8.

Chaudhry, A., Anthanasiou-Fragkouli, A., & Houlden, H. (2021). DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder. Journal of neurology, 268, 3031-3041.

Chen, R., Ishak, C. A., & De Carvalho, D. D. (2021). Endogenous retroelements and the viral mimicry response in cancer therapy and cellular homeostasis. Cancer discovery, 11(11), 2707-2725.

De Jesus, O. (2020). Dentatorubral Pallidoluysian Atrophy.

de Koning, A. J., Gu, W., Castoe, T. A., Batzer, M. A., & Pollock, D. D. (2011). Repetitive elements may comprise over two-thirds of the human genome. PLoS genetics, 7(12), e1002384.

de Silva, R. N., Vallortigara, J., Greenfield, J., Hunt, B., Giunti, P., & Hadjivassiliou, M. (2019). Diagnosis and management of progressive ataxia in adults. Practical neurology, 19(3), 196-207.

Domart, M. C., Benyamina, A., Lemoine, A., Bourgain, C., Blecha, L., Debuire, B., . . . Saffroy, R. (2012). Association between a polymorphism in the promoter of a glutamate receptor subunit gene (GRIN2A) and alcoholism. Addiction biology, 17(4), 783-785.

Donaldson, J., Powell, S., Rickards, N., Holmans, P., & Jones, L. (2021). What is the pathogenic CAG expansion length in Huntington’s disease? Journal of Huntington's Disease, 10(1), 175-202.

Donis, K. C., Saute, J. A. M., Krum-Santos, A. C., Furtado, G. V., Mattos, E. P., Saraiva-Pereira, M. L., . . . Jardim, L. B. (2016). Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence. neurogenetics, 17, 107-113.

Dumbovic, G., Forcales, S.-V., & Perucho, M. (2017). Emerging roles of macrosatellite repeats in genome organization and disease development. Epigenetics, 12(7), 515-526.

Eslami Rasekh, M., Hernández, Y., Drinan, S. D., Fuxman Bass, J. I., & Benson, G. (2021). Genome-wide characterization of human minisatellite VNTRs: population-specific alleles and gene expression differences. Nucleic acids research, 49(8), 4308-4324.

Fan, H.-C., Ho, L.-I., Chi, C.-S., Chen, S.-J., Peng, G.-S., Chan, T.-M., . . . Harn, H.-J. (2014). Polyglutamine (PolyQ) diseases: genetics to treatments. Cell transplantation, 23(4-5), 441-458.

Feliciello, I., Pezer, Ž., Sermek, A., Bruvo Mađarić, B., Ljubić, S., & Ugarković, Đ. (2021). Satellite DNA-mediated gene expression regulation: Physiological and evolutionary implication. Satellite DNAs in Physiology and Evolution, 145-167.

Fonville, N. C., Vaksman, Z., McIver, L. J., & Garner, H. R. (2015). Population analysis of microsatellite genotypes reveals a signature associated with ovarian cancer. Oncotarget, 6(13), 11407.

Forster, P., Hohoff, C., Dunkelmann, B., Schürenkamp, M., Pfeiffer, H., Neuhuber, F., & Brinkmann, B. (2015). Elevated germline mutation rate in teenage fathers. Proceedings of the Royal Society B: Biological Sciences, 282(1803), 20142898.

Ganesan, S. (2022). Breaking satellite silence: human satellite II RNA expression in ovarian cancer. Journal of Clinical Investigation, 132(16), e161981.

Garber, K. B., Visootsak, J., & Warren, S. T. (2008). Fragile X syndrome. European journal of human genetics, 16(6), 666-672.

Garrido-Ramos, M. A. (2017). Satellite DNA: an evolving topic. Genes, 8(9), 230.

Geng, L. N., Yao, Z., Snider, L., Fong, A. P., Cech, J. N., Young, J. M., . . . Tawil, R. (2012). DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Developmental cell, 22(1), 38-51.

Goldenfeld, N., & Woese, C. (2011). Life is physics: evolution as a collective phenomenon far from equilibrium. Annu. Rev. Condens. Matter Phys., 2(1), 375-399.

Grunseich, C., Rinaldi, C., & Fischbeck, K. (2014). Spinal and bulbar muscular atrophy: pathogenesis and clinical management. Oral diseases, 20(1), 6-9.

Hall, L. L., Byron, M., Carone, D. M., Whitfield, T. W., Pouliot, G. P., Fischer, A., . . . Lawrence, J. B. (2017). Demethylated HSATII DNA and HSATII RNA foci sequester PRC1 and MeCP2 into cancer-specific nuclear bodies. Cell reports, 18(12), 2943-2956.

Hause, R. J., Pritchard, C. C., Shendure, J., & Salipante, S. J. (2016). Classification and characterization of microsatellite instability across 18 cancer types. Nature medicine, 22(11), 1342-1350.

Indelicato, E., Nachbauer, W., Eigentler, A., Amprosi, M., Matteucci Gothe, R., Giunti, P., . . . Klopstock, T. (2020). Onset features and time to diagnosis in Friedreich’s Ataxia. Orphanet journal of rare diseases, 15(1), 1-8.

Jagannathan, M., Cummings, R., & Yamashita, Y. M. (2018). A conserved function for pericentromeric satellite DNA. Elife, 7, e34122.

Jayadev, S., & Bird, T. D. (2013). Hereditary ataxias: overview. Genetics in Medicine, 15(9), 673-683.

Jeffreys, A. J., Wilson, V., & Thein, S. L. (1985). Hypervariable ‘minisatellite’regions in human DNA. Nature, 314(6006), 67-73.

Karunasena, E., McIver, L. J., Rood, B. R., Wu, X., Zhu, H., Bavarva, J. H., & Garner, H. R. (2014). Somatic intronic microsatellite loci differentiate glioblastoma from lower-grade gliomas. Oncotarget, 5(15), 6003.

Kelkar, Y. D., Strubczewski, N., Hile, S. E., Chiaromonte, F., Eckert, K. A., & Makova, K. D. (2010). What is a microsatellite: a computational and experimental definition based upon repeat mutational behavior at A/T and GT/AC repeats. Genome biology and evolution, 2, 620-635.

Kim, H., Lim, K. Y., Park, J. W., Kang, J., Won, J. K., Lee, K., . . . Choi, S.-H. (2022). Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors. Laboratory Investigation, 102(2), 160-171.

Klockgether, T. (2011). Update on degenerative ataxias. Current opinion in neurology, 24(4), 339-345.

Ksiazek, K., Blaszczak, J., & Buraczynska, M. (2019). IL4 gene VNTR polymorphism in chronic periodontitis in end‐stage renal disease patients. Oral diseases, 25(1), 258-264.

La Spada, A. R., & Taylor, J. P. (2003). Polyglutamines placed into context. Neuron, 38(5), 681-684.

Lang, T., Li, G., Yu, Z., Ma, J., Chen, Q., Yang, E., & Yang, Z. (2019). Genome-wide distribution of novel Ta-3A1 mini-satellite repeats and its use for chromosome identification in wheat and related species. agronomy, 9(2), 60.

Lee, H., Zhang, Z., & Krause, H. M. (2019). Long noncoding RNAs and repetitive elements: junk or intimate evolutionary partners? TRENDS in Genetics, 35(12), 892-902.

Leem, S. H., Jeong, Y. H., Yoon, S. L., & Seol, S.-Y. (2011). Diagnosis kits and method for detecting cancer using polymorphic minisatellite. In: Google Patents.

Li, Y.-C., Korol, A. B., Fahima, T., & Nevo, E. (2004). Microsatellites within genes: structure, function, and evolution. Molecular biology and evolution, 21(6), 991-1007.

Liehr, T. (2019). From human cytogenetics to human chromosomics. International Journal of Molecular Sciences, 20(4), 826.

Liehr, T. (2021). Repetitive elements in humans. International Journal of Molecular Sciences, 22(4), 2072.

Llamusí, B., & Artero, R. (2008). Molecular effects of the CTG repeats in mutant dystrophia myotonica protein kinase gene. Current genomics, 9(8), 509-516.

Lopes, M., Louzada, S., Gama-Carvalho, M., & Chaves, R. (2021). Genomic tackling of human satellite DNA: breaking barriers through time. International Journal of Molecular Sciences, 22(9), 4707.

Lopez-Pajares, V. (2016). Long non-coding RNA regulation of gene expression during differentiation. Pflügers Archiv-European Journal of Physiology, 468, 971-981.

Massey, T. H., & Jones, L. (2018). The central role of DNA damage and repair in CAG repeat diseases. Disease models & mechanisms, 11(1), dmm031930.

Matsubayashi, H., Higashigawa, S., Kiyozumi, Y., Oishi, T., Sasaki, K., Ishiwatari, H., . . . Ishikawa, K. (2022). Microsatellite instability is biased in Amsterdam II-defined Lynch-related cancer cases with family history but is rare in other cancers: a summary of 1000 analyses. BMC cancer, 22(1), 1-12.

McIntosh, C. S., Li, D., Wilton, S. D., & Aung-Htut, M. T. (2021). Polyglutamine ataxias: our current molecular understanding and what the future holds for antisense therapies. Biomedicines, 9(11), 1499.

McIver, L. J., Fonville, N., Karunasena, E., & Garner, H. R. (2014). Microsatellite genotyping reveals a signature in breast cancer exomes. Breast cancer research and treatment, 145, 791-798.

Meola, G., & Cardani, R. (2015). Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease, 1852(4), 594-606.

Mueller, S. M., Mihaylova, V., Frese, S., Petersen, J. A., Ligon-Auer, M., Aguayo, D., . . . Toigo, M. (2019). Satellite cell content in Huntington’s disease patients in response to endurance training. Orphanet journal of rare diseases, 14, 1-5.

Nopoulos, P. C. (2022). Huntington disease: a single-gene degenerative disorder of the striatum. Dialogues in clinical neuroscience.

Orr, H. T., & Zoghbi, H. Y. (2007). Trinucleotide repeat disorders. Annu. Rev. Neurosci., 30, 575-621.

Pagni, S., Mills, J. D., Frankish, A., Mudge, J. M., & Sisodiya, S. M. (2022). Non‐coding regulatory elements: Potential roles in disease and the case of epilepsy. Neuropathology and Applied Neurobiology, 48(3), e12775.

Pal, T., Permuth‐Wey, J., & Sellers, T. A. (2008). A review of the clinical relevance of mismatch‐repair deficiency in ovarian cancer. Cancer: Interdisciplinary International Journal of the American Cancer Society, 113(4), 733-742.

Pandolfo, M. (2008). Friedreich ataxia. Archives of neurology, 65(10), 1296-1303.

Pappalardo, X. G., & Barra, V. (2021). Losing DNA methylation at repetitive elements and breaking bad. Epigenetics & chromatin, 14(1), 1-21.

Paulson, H. (2012). Machado–Joseph disease/spinocerebellar ataxia type 3. Handbook of clinical neurology, 103, 437-449.

Paulson, H. (2018). Repeat expansion diseases. Handbook of clinical neurology, 147, 105-123.

Picardo, M., Ottaviani, M., Camera, E., & Mastrofrancesco, A. (2009). Sebaceous gland lipids. Dermato-endocrinology, 1(2), 68-71.

Ramírez-Patiño, R., Figuera, L. E., Puebla-Pérez, A. M., Delgado-Saucedo, J. I., Legazpí-Macias, M. M., Mariaud-Schmidt, R. P., . . . Zúñiga-González, G. M. (2013). Intron 4 VNTR (4a/b) polymorphism of the endothelial nitric oxide synthase gene is associated with breast cancer in Mexican women. Journal of Korean medical science, 28(11), 1587-1594.

Remya, K., Joseph, S., Lakshmi, P., & Akhila, S. (2010). Microsatellites in varied arenas of research. Journal of Pharmacy and Bioallied Sciences, 2(2), 141.

Rich, J., Ogryzko, V. V., & Pirozhkova, I. (2014). Satellite DNA and related diseases. Biopolymers and Cell, 30(4), 249-259.

Richard, G.-F., Kerrest, A., & Dujon, B. (2008). Comparative genomics and molecular dynamics of DNA repeats in eukaryotes. Microbiology and molecular biology reviews, 72(4), 686-727.

Rose, A. M. (2015). Therapeutics and diagnostics based on minisatellite repeat element 1 (msr1). In: Google Patents.

Rüb, U., Schöls, L., Paulson, H., Auburger, G., Kermer, P., Jen, J. C., . . . Deller, T. (2013). Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7. Progress in neurobiology, 104, 38-66.

Rudd, M. K., Mays, R. W., Schwartz, S., & Willard, H. F. (2003). Human artificial chromosomes with alpha satellite-based de novo centromeres show increased frequency of nondisjunction and anaphase lag. Molecular and cellular biology.

Samara, K., Zervou, M., Siafakas, N. M., & Tzortzaki, E. G. (2006). Microsatellite DNA instability in benign lung diseases. Respiratory medicine, 100(2), 202-211.

Santoro, M. R., Bray, S. M., & Warren, S. T. (2012). Molecular mechanisms of fragile X syndrome: a twenty-year perspective. Annual Review of Pathology: Mechanisms of Disease, 7, 219-245.

Schaap, M., Lemmers, R. J., Maassen, R., van der Vliet, P. J., Hoogerheide, L. F., van Dijk, H. K., . . . van der Maarel, S. M. (2013). Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions. BMC genomics, 14, 1-12.

Sheila, M., Narayanan, G., Ma, S., Tam, W. L., Chai, J., & Stanton, L. W. (2019). Phenotypic and molecular features underlying neurodegeneration of motor neurons derived from spinal and bulbar muscular atrophy patients. Neurobiology of disease, 124, 1-13.

Shilpa, V., Bhagat, R., Premalata, C., Pallavi, V., & Krishnamoorthy, L. (2014). Microsatellite instability, promoter methylation and protein expression of the DNA mismatch repair genes in epithelial ovarian cancer. Genomics, 104(4), 257-263.

Soltanzadeh, P. (2022). Myotonic dystrophies: a genetic overview. Genes, 13(2), 367.

Steinke, V., Engel, C., Büttner, R., Schackert, H. K., Schmiegel, W. H., & Propping, P. (2013). Hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome. Deutsches Ärzteblatt International, 110(3), 32.

Strand, M., Prolla, T. A., Liskay, R. M., & Petes, T. D. (1993). Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature, 365(6443), 274-276.

Sullivan, R., Yau, W. Y., O’Connor, E., & Houlden, H. (2019). Spinocerebellar ataxia: an update. Journal of neurology, 266, 533-544.

Tabolacci, E., Palumbo, F., Nobile, V., & Neri, G. (2016). Transcriptional reactivation of the FMR1 gene. A possible approach to the treatment of the fragile X syndrome. Genes, 7(8), 49.

Thakur, J., Packiaraj, J., & Henikoff, S. (2021). Sequence, chromatin and evolution of satellite DNA. International Journal of Molecular Sciences, 22(9), 4309.

Tremblay, D. C., Alexander, G., Moseley, S., & Chadwick, B. P. (2010). Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome. BMC genomics, 11(1), 1-15.

Tsuji, S. (2012). Dentatorubral–pallidoluysian atrophy. Handbook of clinical neurology, 103, 587-594.

Vaksman, Z., & Garner, H. R. (2015). Somatic microsatellite variability as a predictive marker for colorectal cancer and liver cancer progression. Oncotarget, 6(8), 5760.

Velmurugan, K., Varghese, R., Fonville, N., & Garner, H. (2017). High-depth, high-accuracy microsatellite genotyping enables precision lung cancer risk classification. Oncogene, 36(46), 6383-6390.

Vergnaud, G., & Denoeud, F. (2000). Minisatellites: mutability and genome architecture. Genome Research, 10(7), 899-907.

Walker, F. O. (2007). Huntington's disease. The Lancet, 369(9557), 218-228.

Wyner, N., Barash, M., & McNevin, D. (2020). Forensic autosomal short tandem repeats and their potential association with phenotype. Frontiers in genetics, 11, 884.

Xia, X., Rui, R., Quan, S., Zhong, R., Zou, L., Lou, J., . . . Zhang, Y. (2013). MNS16A tandem repeats minisatellite of human telomerase gene and cancer risk: a meta-analysis. PloS one, 8(8), e73367.

Zheng, D., Huo, M., Li, B., Wang, W., Piao, H., Wang, Y., . . . Liu, K. (2021). The role of exosomes and exosomal microRNA in cardiovascular disease. Frontiers in cell and developmental biology, 8, 616161.

Zheng, Q.-X., Wang, J., Gu, X.-y., Huang, C.-H., Chen, C., Hong, M., & Chen, Z. (2021). TTN-AS1 as a potential diagnostic and prognostic biomarker for multiple cancers. Biomedicine & Pharmacotherapy, 135, 111169.

Zhou, M., Guo, X., Wang, M., & Qin, R. (2021). The patterns of antisense long non-coding RNAs regulating corresponding sense genes in human cancers. Journal of Cancer, 12(5), 1499.