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Microsatellite DNA Associate with Some Common Human Disease

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Microsatellite DNA Associate with Some Common Human Disease A review of Microsatellite DNA Associate with Some Common Human Disease By Hozan Ibrahim Ibrahim Supervised by Professor Dr. Hazha Jamal Hidayat Biology Department / Education College / Salahaddin University – Erbil (2019-2020) Abstract Satellite D.N.A, also identified as repetitive & DNA, includes a group of repeating sequencese & describe a different group of repetitives units. Satiellite D.N.A. can classified to different categories based on size of every repeate; microsatellite, minisatellite, & macrosatellite. A microsatellite is one class of the tandem repeats and microsatellite-induced some genetic differences are proven to affect phenotypic differences. Mutationse in microsatellite could even lead to several infected phenotypes and altered protein function and the causes of these major processes of biology may be repeated by microsatellite. It does however alter the cellular phenotype, disease, & cancer. In this review, I discuss the correlation between some diseases with microsatellite on different positions of chromosomes. 1 Keyword: Satellite DNA, Microsatellite related diseases, Mutation. 1 Introduction Just a small fraction of human DN. A. encodes proteins, and most unencrypted DN. A. , transosons and elements derived from transposon make up the bulk of the genome (Rich, et al., 2014). In the 1970s, that fact was first discovered. The human e genomee projects efforts ensued in an estimate of percentage unencoded DN. A. for the human genome from 98 to 99 % (Rich, et al., 2014). Eukaryotic genomes consist of a large number of various categories of repetitives DN. A. sequence , spread (of the most part transposones & retro- transposones, also retro-transposoneed sequence & several famiilies of proteins encoding genes)/or ordered in tandeme (ribosomale R..N...A.., genes famiily encode proteins, sat iellites, DN. A. telomere, the central DN. A. ( Lópezes-Flores, and Garido-Ramocs, 2 012 ; Biscotie , et.. al., 2. 015 ). T.he tandems repeated sequences as well named satellite DN. A. , when repeats copy are adjacent (Rich, et al., 2014). Sat DN. A. s could make up a large part of the human genomes (Macas, et..al., 2 000 ; De la, et . al., 2001; Hrbová , et. al., 2010; Ambrožová , et. al., 2011; Čizkova , et. al., 2 013 ; Emadzade, et. al., 2 014 ; Garrido-Ramos, 2015). DNA Repetitive will demonstrate the C values enigma (Gregory, 2005). The term of «junk DNA» also it was represented by the called value C enigma, base on which the size of the genome is not related to the level of complexity of the organism (Hoeppner, et al., 2009). The genomes sizes variations a mange spec ies, evene similar spec ies, are often thousands e of ordiers of magn itiude (Jaillon, 2004; Bennett and Leitch, 2005; Piegu, et.. al., 2 ,006 ; Hu, et.. al., 2011 ; Piednoël, et .. al., 2 012; Wei et .. al., 2014 ). Transport elements (TEs) are chiefly responsiible to observed of differentiated among genomese between repeated sequences. For instance, TEs account for 45 per cent of the humane genome ( Landeer , et .. al., 2 001). For instance, various families of 2 satDNA may exist in one species; 9 families of Sat DN. A. present in human e genome (Leivy, et .. al., 2 007 ; Meiga , 2015). 2 Type of Sate llitey D.N.A. Sate llitey D.N.A isdivided to different classes depending on sizes, structures, & locations(Garrido-Ramos, 2017). Satellite DNA can be divided in to three classes as following (Richard, et. al., 2,008 ; Picardo , et . al ., 2,009; Tremblay, et . al ., 2,010 ): 2.1 Microsatellites (less than 10 bp perrepeat) The, more widespread of satellites e are the simplest repetitive on the chromosome (microsatellites e ), also often referred to as short e t .andem repeat e ( S.T .R )/or s imple sequence s repeate ( S.S.R ) /or short sequence repeats (SSRs), it is composed of tandem duplications of 1–6 b .p ( Lanider, et . al. 2 001; Picardo , et. al., 2009). 2.2 Minisatellites (10–60 bp per repeat), It is noncoding D .N .A s, it's found mainly in chromosomal centro - meric or telo -meric areas. This, type of satellite D .N .A is demonstrate by a, & g- satellite e (Rudd, et al., 2003). Among the repetitive DNA families scattered throughout the genome are variable number tandem repeats (VNTRs), also named minisatellites (Antonio, and Gustavo , 2017). 2.3 Macrosatellites (several kb per repeat) Macrosatellite repeat e ( M.S.R ) is also the one satellite to have an open e reading e frames ( O . R . F. ) & thus create protein coding( R. N . A) in any repeate unit, as described in D .4Z.4 (D .U .X . 4), C .T . 47, R .S . 447 & T .A .F 11. Repeats like P.R.R. 20. Compared to telomere/ or centomerial sate llites s, That one may be present in several chromosomes, M .S.R.s are often intended for only one/or two chro - mosomes s.(Baloge , et. al ., 2 .012; Genge , et. al., 2 .012 ) . 3 3 Some Common Human Diseases Correlate with Microsatellite 3.1 Polyglutamine (PolyQ) Diseases PolyQ-disease (polyQ) includes spino-cerebellar ataxia (S.C.A) types1 .,2 .,6 .,7,&17., in addition to Machado .-Josephs disease ( M. J . D./S. C. A . 3 ), Hun.-tington's disease s (H .D .), dentate-rubral pallidoluisiana (D . R. P. L . A . ), & spinale builbar musculare atrophye X linked type . 1. (S. M. A. X. 1/S. B. M. A. ) (La .Spada, and Taylore, 2 .003 ; Orre, and Zoghbi i, 2007). This genetic disorder caused by the expansion of CAG repeat exepansion of cytosine,adenine,&guanine recurrence ( C.b A. G. ) is the actual reason of a triple recurrence disorder, known collectively as polyglutamine disease, and the expanded C .A.G. properties transform in to a seriese of uninte -rrupted glut amine residues that are exposed to agglomeration, allowing toxicity to cells e (Gabrijela Dumbovic, et al., 2017). 3.1.1 Spinocerebellar Ataxias (SCA)Types1,2 3,6,7, &17 Spino cerebellar ataxia (S.C.A), is autosomal dominant e disorder, occurs in both men & women, usually affects the central nervous system ( C.N.S) (Rube, et. al., 2013 ; Scholes, et.al., 2 004 ). The S.C .A .. is a subsets of autosomal dominant inherited cerebellar ataxias. These are progressive neurodegenerative diseases that express ataxia's clinical characteristics caused by the progressive cerebellum degeneration, yet other associated regions also may be affected, involving brain steme (Zoghbi, & Orr, 2000; Nakamura, et al., 2001 ). Characteristics include balanced loss of equilibrium & arrangement, poor perception, damaged vision & decelerating of polysaccharides, dyslexia, dysphagiae, neuropathy of peripherale, extrapyramidal symptoms, dysfunction & respiratory failure (Sullivan, et al., 2018). 3.1.2 Hun ti ngton's Diseases ( H. D. ) Huntiington's disease (HD). is a rare neurodegenerative disease, a prevalent autosomal dominant disease in adulthood (Thomson, et al., 1998; Bates, 2003; 4 Menzies, et al., 2010). Characteristics include growth of choreae dance that moderetely spreads to totally muscles & is often noticeable with othere movement disorders, involving dystoniae, slowed movement, & motor inconsistency (Walker, 2007). Behavioral or psychological characteristics are also common, like as changing in personality, care deficit, cognitive descent, irritab iility & dementiae (Roos, 2010; Gabrijela, et al., 2017). 3.1.3 Dentato. rubral..Pallido.luysian..Atrophy. ( D. R. P. L. A .) D.R.P.L.A. is an uncommon dominantal autosomae neuro - degenerative disease, as well defined as HawRiveresyndrome & Naito Oyanagi disease ( Burke , et . al., 1 994). It features symptoms including such myoclonus, epilepsy, ataxias & choreoathetosis (Veneziano, et al., 2020 ; Yamada, 2010). It classify into three DRPLA groups based on the age of onset: the lower seizure group, younger than 20 years old, demonstrated ataxias and symptoms compose with myoclonuse epilepsy. A group that begins in adulthood, between the ages of 20&40, may experience muscle myoma attacks. The group that started late, over 40 years old, is featured by ataxia, choreoathetosise and demintia. In addition to these symptoms e, cervic dyistonia, degenerate of endothelial, autisms, & surgical resistance difficult slieep apnea aren't uncommon in patients with D .R.P.L.A (Hatano, et al., 2003). 3.1.4 Spinale Builbar Musculare Atirophey X - Liinked Typee 1 (S .M .A .X .1/ S .B .M .A .) ( 1 ,0 7 - 1,4 4 ). Spinale builbar musculare atirophey ( S. B. M. A .), often referred to as Keniinedy’s diseasees (Breza & Koutsis, 2019 ). characteristics include weaknes and typical early S.B.M.A. symptoms are difficult of walk and a tendency to decrease, muscles & facial deficiency, low of the soft palate & soft movements, and tongue atrophy often occur with fasciculation (Fan, et al., 2014). 3.1.5 MachadoeJosepheDisease ( M. J. D/SCA3): Spino.cerebellareataxia (S.C.A.s) is a class of auto-somal dominant disorder effect by cerebellum degeneration and its subsequent or discharged pathways. 5 Between these, expansion of polyglutamine (polyQ) causes S . C. A. 1,2,3,6,7,17 & the atrophey of dentatorubral e pallidoluysiana (Van, et al., 2002 ; Paulson, 2012). Characterized by memory impairment, difficulty speaking and swallowing, weak ar ms & l egs, clumsy, recurrent urination & uncontrolled eye movementes. Feature typically develop in early teenager, & may deteriorate through time. Ultimately(M .J. D).,allows paralysis. fun ictions nevertheless Just stay the same (Kawai, et al., 2004). 3.2 X-Fragile Syndrome X Fragile Syndromess ( F. X. S. ) is a genetice diisorder with a mild to medium intellectuale dis ability that is generally inherited diseases due to triplet repeat (Gabrijela, et al., 2017). Instead, the repression of gene transcription, caused by the expansion of micro-satellites, leads to a mechanism for job loss. For instance, fragile Xmentale retardation e 1 gene (F .c M. R. 1) is related to satellite expansion (C .G .G .), resulting e in sil encing of transcription and loss of FMRP, the proteineproduct of FMR1 gene (Elisabetta, et al., 2016).
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