234:
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synthesis. It is believed that cells cannot properly dispose of proteins with overlong polyglutamine tracts, which over time leads to damage in
74:
of such a gene often have different numbers of triplets since the highly repetitive sequence is prone to contraction and expansion.
242:
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Wharton KA, Yedvobnick B, Finnerty VG, Artavanis-Tsakonas S (1985). "opa: a novel family of transcribed repeats shared by the
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98:
158:
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defects. The significance of similarly expanded tracts in humans became evident when polyQ tracts were found to underlie
89:
causes a polyglutamine tract in a specific gene to become too long. Important examples of polyglutamine diseases are
70:
into a protein, each of these triplets gives rise to a glutamine unit, resulting in a polyglutamine tract. Different
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cell can lead to children that are more affected or display an earlier onset and greater severity of the condition.
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Nucleotide sequences encoding a lengthy polyQ tract were first noted in the gene encoding the
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329:
274:
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42:, in various eukaryotic species (including humans), contain a number of repetitions of the
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138:
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125:. The longer the polyglutamine tract, the earlier in life these diseases tend to appear.
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309:
208:
183:
365:
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310:"The Nature, Extent, and Consequences of Genetic Variation in the opa Repeats of
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polyQ tract, as caused by triplet repeat instability, was later found to cause
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43:
63:
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53:
50:
32:
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units. A tract typically consists of about 10 to a few hundred such units.
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57:
47:
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28:
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184:"Repeat instability during DNA repair: Insights from model systems"
39:
232:
Polyglutamine
Diseases: A Devastating Genetic Stutter
259:locus and other developmentally regulated loci in
8:
308:Rice C, Beekman D, Liu L, Erives A (2015).
182:Usdin K, House NC, Freudenreich CH (2015).
341:
207:
16:Protein region with only glutamine units
174:
109:is considered to be a consequence of
7:
31:consisting of a sequence of several
137:. Variation of the length of this
14:
243:Howard Hughes Medical Institute
107:Trinucleotide repeat expansion
99:Trinucleotide repeat expansion
1:
245:. Retrieved 30 December 2008.
188:Crit. Rev. Biochem. Mol. Biol
322:G3: Genes, Genomes, Genetics
279:10.1016/0092-8674(85)90308-3
200:10.3109/10409238.2014.999192
159:nucleotide repeat expansions
155:neurodegenerative disorders
79:neurodegenerative disorders
393:
111:slipped strand mispairing
101:occurring in a parental
151:spinocerebellar ataxias
157:were found to involve
153:. In general, several
91:spinocerebellar ataxia
83:polyglutamine diseases
334:10.1534/g3.115.021659
147:Huntington's disease
95:Huntington's disease
77:Several inheritable
66:. When the gene is
21:polyglutamine tract
237:2013-05-07 at the
165:coding sequences.
27:is a portion of a
372:Peptide sequences
328:(15): 2405–2419.
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262:D. melanogaster
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253:
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239:Wayback Machine
230:Laura Bonetta,
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181:
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115:DNA replication
38:A multitude of
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5:
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135:Notch receptor
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113:either during
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194:(2): 142–67.
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143:developmental
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85:, occur if a
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273:(1): 55–62.
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149:and several
132:
76:
37:
24:
20:
18:
123:nerve cells
25:polyQ tract
366:Categories
316:Drosophila
169:References
119:DNA repair
68:translated
44:nucleotide
33:glutamine
377:Mutation
352:26362765
235:Archived
218:25608779
103:germline
87:mutation
46:triplet
343:4632060
295:9951524
287:2981631
209:4454471
163:protein
129:History
72:alleles
29:protein
350:
340:
293:
285:
216:
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81:, the
312:Notch
291:S2CID
257:Notch
139:Notch
40:genes
348:PMID
283:PMID
267:Cell
214:PMID
93:and
338:PMC
330:doi
314:in
275:doi
265:".
204:PMC
196:doi
161:in
117:or
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56:or
23:or
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346:.
336:.
324:.
320:.
289:.
281:.
271:40
269:.
241:,
212:.
202:.
192:50
190:.
186:.
19:A
354:.
332::
326:5
318:"
297:.
277::
220:.
198::
64:A
61:A
58:C
54:G
51:A
48:C
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