ライフサイエンスコーパス: duplication

1 led by expansion of this family through gene duplication.

2 4 (PLK4), the master regulator of centrosome duplication.

3 patterns following genome merger and genome duplication.

4 a stem-cell-specific function in centrosome duplication.

5 cus gene (Stil), key regulators of centriole duplication.

6 aterian groups) by fusion, rearrangement and duplication.

7 on of these diverse strains following genome duplication.

8 odular connections that are reshaped by gene duplication.

9 east chromosomes important for normal genome duplication.

10 ions found in freshwater often involves gene duplication.

11 el assembly, and thereby regulates centriole duplication.

12 how other paralogs impact or constrain gene duplication.

13 cing factors leads to a failure of centriole duplication.

14 1, as a novel protein required for centriole duplication.

15 e changes following hybridization and genome duplication.

16 onal chemicals to ensure alignment and avoid duplication.

17 n affected males from five families with the duplication.

18 itment of Plk4, a key regulator of centriole duplication.

19 MHC) variants, satellite DNAs, and segmental duplications.

20 s of a pedigree with NTG caused by TBK1 gene duplications.

21 e in a family of NTG patients with TBK1 gene duplications.

22 on structural variants such as deletions and duplications.

23 nduce complex translocations and large-scale duplications.

24 e accuracy of long-read mapping in segmental duplications.

25 ic duplications, including those with single duplications (1 yeast gene to 2 human genes, 1:2) or hig

26 Duplication 15q (Dup15q) syndrome is a rare neurogenetic

27 During centriole duplication, a preprocentriole forms at a single site on

28 Due to a teleost-specific whole-genome duplication, A. burtoni possess two androgen receptor (A

29 ortical pattern is propagated during "tandem duplication," a cell division that remodels the parental

30 At the recombinant junction, the duplication allele produces a fusion gene derived from A

31 Tandem duplications also have a multimodal size distribution, b

32 find that treatment of FLT3 internal tandem duplication AML cells with quizartinib, a selective FLT3

33 te whether the intrinsic instability of gene duplication and amplification provides a generic alterna

34 NA replication is essential to couple genome duplication and cell division with the establishment and

35 Paralogs (tandem duplication and disperse duplicated) were also identifie

36 Gene duplication and divergence is a major driver in the emer

37 Duplication and divergence is a major mechanism by which

38 suggest a model of brain region evolution by duplication and divergence of entire cell-type sets.

39 evolution of Sub1B and Sub1A genes by tandem duplication and divergence of the ancestral Sub1C gene i

40 Does the establishment of a new pathway by duplication and divergence require the system-wide optim

41 They produce a three-base target site duplication and do not have homology to other characteri

42 esulting from horizontal gene transfer, gene duplication and gene loss.

43 rate that purge_dups can reduce heterozygous duplication and increase assembly continuity while maint

44 These results indicate that gene duplication and intragenic deletion played essential rol

45 earch but can be challenging because of gene duplication and loss (GDL), which results in genes that

46 impact of lateral gene transfer (LGT), gene duplication and loss across thaumarchaeotal evolution.

47 %) and present the first evidence of an SNCA duplication and LRRK2 p.N1437D variant in mainland China

48 al mutations, including FLT3-internal tandem duplication and other events contributing to increased p

49 tyltransferase complexes originate from gene duplication and paralog specification.

50 regions, and revealing evidence of extensive duplication and recombination events.

51 e selection and expansion via segmental gene duplication and recombination.

52 e Trypanosoma brucei depends on the faithful duplication and segregation of multiple flagellum-associ

53 Whole-genome duplication and tandem duplication events have significa

54 romes that may be crucial for stability, DNA duplication and tethering, and/or a means of nuclear int

55 e operate immediately following whole-genome duplication and that duplicate gene retention patterns a

56 ed how the luciferase cluster was derived by duplication and translocation, frequently rearranged and

57 epsilon (Pol epsilon) is required for genome duplication and tumor suppression.

58 nces cluster by species, suggesting frequent duplication and/or gene conversion events.

59 tions in Escherichia coli, we show that gene duplications and amplifications enable adaptation to flu

60 ertion locus of large interspersed segmental duplications and characterize translocations.

61 e mosaic chromosomal alterations (deletions, duplications and copy-neutral loss of heterozygosity (CN

62 LCR16a promotes serial interspersed duplications and creates hotspots of genomic instability

63 number expansion of auxin-related genes from duplications and elevated auxin production are associate

64 genomics have focused predominantly on gene duplications and large-effect inversions.

65 ted driver fusions including internal tandem duplications and other non-canonical events in 170 pedia

66 validation BACs sampled from known segmental duplications and provides the first preliminary assembli

67 ons, including regionally restricted runaway duplications and putatively introgressed variants from a

68 Duplications and triplications of SNCA, the gene coding

69 Hi-C resolved the positions of the duplications and was instructive in interpreting their d

70 s the hallmarks (poly-A tail and target site duplication) and orientation of Alu insertions using loc

71 identifying a total of 11,314 deletion, 5625 duplication, and 2746 homozygous deletion CNV regions (C

72 t themes in phytochrome evolution: deletion, duplication, and diversification.

73 in chromatin architecture, methylation, gene duplications, and expression dynamics related to desicca

74 ve homologous recombination, gene loss, gene duplications, and horizontal gene transfer.

75 f templated insertions correlate with tandem duplications, and-in liver cancer-frequently activate th

76 f mitochondrial tRNAs in thrips include gene duplications, anticodon mutations, loss of secondary str

77 In conclusion, Xp22.31 duplications appear largely benign, but could slightly i

78 ng the genes retained from this whole-genome duplication are homologues of genes that regulate flower

79 equence changes, expression changes, or gene duplication are not clear.

80 22q11.2 deletions and duplications are copy number variations (CNVs) that pred

81 For example, whole-genome duplications are known to be fundamental to the origins

82 Top2-associated duplications are promoted by the clean removal of the en

83 get, by increased gene expression or by gene duplication, are an important, albeit less common, TSR m

84 The duplication arose de novo in three mothers where grandpa

85 Pyrgo are "towers" of low-JCN duplications associated with early-replicating regions,

86 ther show that Nup188 functions in centriole duplication at or upstream of Sas6 loading.

87 had previously been identified as harboring duplications at the SOX9 locus and six had been identifi

88 Here we report 14 males from 9 families with duplications at the Xq13.2-q13.3 locus with a common fac

89 We propose that duplications at Xq13.2-13.3 including RLIM cause a recog

90 We resolve two distinct ancient duplications based on patterns of chromosomal conserved

91 ading to the emergence of large interspersed duplication blocks at non-orthologous chromosomal locati

92 susceptibility remains mostly unchanged for duplications but decreases for deletions.

93 tors leads to a specific defect in centriole duplication, but the cause of this deficit remains unkno

94 y to 90% of hepatocytes contain whole-genome duplications, but little is known about the fates or fun

95 Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers.

96 volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large

97 in 106 22q11.2 deletion carriers, 38 22q11.2 duplication carriers, and 82 demographically matched hea

98 ater lateral ventricle and putamen volume in duplication carriers.

99 This 22 bp duplication causes a frame shift leading to a premature

100 How this duplication causes megakaryocyte-specific PLAU overexpre

101 for inversions, on the basis of its size and duplication content.

102 The centriole duplication cycle normally ensures that centriole number

103 ong congenital conditions, annular pancreas, duplication cyst, superior mesenteric artery syndrome, m

104 proto-reptile by cystathionine beta-synthase duplication, cysteine lyase neofunctionalization and cys

105 While congenital anomalies like duplication cysts and diverticula are usually asymptomat

106 WBP11 depletion causes centriole duplication defects, in part by causing a rapid decline

107 Deletions and duplications differentially affect social communication,

108 ficiency disorder, FOXG1 disorder, and MECP2 duplication disorder are developmental encephalopathies

109 ur results suggest that LGT followed by gene duplication drives Nitrososphaerales evolution, highligh

110 than in somatic ones, ensuring rapid genome duplication during synchronous embryonic cell divisions.

111 We show that when great ape lineage-specific duplications emerge, they preferentially (approximately

112 ntified, all NAHR events contain a segmental duplication encompassing FAM230 gene members suggesting

113 s genome has undergone a single whole genome duplication event (compared to two for P. patens) and ev

114 evolved asymmetrically since a whole-genome duplication event in the ancestor of goldfish and common

115 We also provide evidence for a whole-genome duplication event in the lineage leading to L. japonica,

116 LIKE (AXL), generated by a relatively recent duplication event, can partially replace AXR1 in this pa

117 criptomes reveal a Nymphaealean whole-genome duplication event, which is shared by Nymphaeaceae and p

118 yeast paralogs derived from the whole-genome duplication event.

119 FV glycoprotein that is suggestive of a gene duplication event.

120 glycoprotein in CCHFV), suggestive of a gene duplication event.

121 rom either EcLsi1 and/or EcLsi6 by fusion or duplication event.

122 The signature correlates with both the duplication events and the phenotype of fast inactivatio

123 Comparative genomics revealed that tandem duplication events contributed to ST gene expansions of

124 epair has previously been linked with tandem duplication events found in BRCA1-mutated genomes.

125 Whole-genome duplication and tandem duplication events have significant impacts on copy numb

126 ondrichthyes, are the product of independent duplication events in the ancestor of each group.

127 and PanNFP2 These genes evolved from ancient duplication events predating and coinciding with the ori

128 In this context, repeated gene duplication events within the DODA gene lineage give ris

129 ation of paralogous genes during genome-wide duplication events(4).

130 nomes has been propelled by a series of gene duplication events, leading to an expansion in new funct

131 the DODA gene lineage exhibits numerous gene duplication events, whose evolutionary significance is u

132 hrough a number of single gene and multigene duplication events.

133 A increase the rate of sequence deletion and duplication events.

134 dreds of millions of years following ancient duplication events.

135 with independent lineage-specific segmental duplications flanking LCR16a leading to the emergence of

136 an by allotetraploidization (that is, genome duplication following interspecific hybridization) from

137 nd Ca(V)2 channels emerged via proposed gene duplication from an ancestral Ca(V)1/2 type channel.

138 In functional studies, FLT3 internal tandem duplication gain or TP53 loss conferred cross-resistance

139 c and chromosomal alterations, deletions, or duplications generate hybrid or mutant CFHR genes, as we

140 d, cell division proceeds without centrosome duplication, generating centrosome-less cells that exhib

141 and phylogenetic analysis indicate that the duplications giving rise to the style-length-determining

142 leles including 18 novel alleles and 9 SLA-1 duplication haplotypes, including 4 new haplotypes.

143 henotypes of individuals with different size duplications has not been fully resolved.

144 The paralogue GLO1, from which GLO2 arose by duplication, has maintained the ancestral B-class functi

145 Most individuals with isodicentric duplications have been on multiple medications to contro

146 Foldback inversions, also called inverted duplications, have been observed in human genetic diseas

147 Reintroducing just two post-duplication historical substitutions into the ancestral

148 genes across angiosperms and analyzed their duplication history, alternative splicing, and subcellul

149 in dysconnectivity shared across deletions, duplications, idiopathic ASD, SZ but not ADHD.

150 Here we define a ~200 Kb genomic duplication in 2p14 as the genetic signature that segreg

151 We reveal a major role for gene duplication in driving genome expansion subsequent to ea

152 We report three missense variants and one duplication in KIF21B in individuals with neurodevelopme

153 g interphase and subsequently complete locus duplication in mitosis in a process known as 'MiDAS'.

154 escendant lineages, but undergoing extensive duplication in others, suggesting niche-specific roles.

155 he prevalence and recurrence of whole-genome duplication in plants and its major role in evolution ha

156 A duplication in the 3'UTR that enhances viral replication

157 ed siRNAs following genome merger and genome duplication in the context of allopolyploid speciation i

158 transposable element-mediated whole-cluster duplication in the context of host-pathogen interactions

159 opportunity to disentangle the role of gene duplication in the evolution of social systems.

160 enotype BA, characterised by a 60-nucleotide duplication in the G glycoprotein gene, emerged in 1999

161 A recent whole genome duplication in the Maleae/Pyreae tribe (with apple, pear

162 gene mutations, such as the four-nucleotide duplication in the oncogene nucleophosmin (NPM1c), which

163 d 3D cell culture experiments, promoted axis duplication in Xenopus embryos, stimulated low-density l

164 ing phylogenetic distances, we inferred that duplications in cytoskeletal and membrane-trafficking fa

165 he complex interspersed pattern of segmental duplications in humans is responsible for rearrangements

166 st, and many have undergone lineage-specific duplications in one or both lineages.

167 Then, after one or more genome-wide duplications in the vertebrate stem, paralogous Edn path

168 ations, from point mutations to whole-genome duplications, in tumour initiation and progression is la

169 The duplication includes two entire genes, PLEK and CNRIP1,

170 amilies that have undergone lineage-specific duplications, including those with single duplications (

171 cing factors that are required for centriole duplication interact with WBP11 and are required for TUB

172 The duplication introduces a premature termination codon lea

173 to characterize large interspersed segmental duplications, inversions, deletions, and translocations

174 Ten CNVRs (nine deletions and one duplication) involved in 10 disease-related genes were s

175 g-read whole-genome sequencing highlighted a duplication involving 2 out of the 5 exons of NMNAT1 mai

176 Gene duplication is a prominent and recurrent process in plan

177 Our analysis showed that SLA-1 duplication is associated with the increased level of SL

178 In contrast, the second duplication is found only in jawed vertebrates and occur

179 netic redundancy resulting from whole genome duplication is thought to facilitate evolutionary change

180 Autism risk conferred by duplications is less influenced by IQ compared with dele

181 Here, we identified an internal tandem duplication (ITD) in the switch II domain of NRAS from a

182 eukemia (AML) harboring FLT3 internal tandem duplications (ITDs) have poor outcomes, in particular AM

183 ore alloSCT, those with FLT3 internal tandem duplications(ITDs) had significantly poorer outcome (haz

184 P2 is expressed throughout the brain and its duplication leads to severe neurological conditions as w

185 QPD duplication led to ectopic interactions between PLAU and

186 O2 occurred sequentially, with the CYP734A50 duplication likely the first.

187 t are associated with massive segmental gene duplications, likely facilitating neofunctionalization.

188 Local tandem and segmental duplications mainly contributed to the expansion and sup

189 H4D following hybridization and whole-genome duplication may have occurred due to gene redundancy (as

190 nsive behavioral characterization of 16p11.2 duplication mice (16p11.2(dp/+)) and identified social a

191 and protect axons in patients with PLP1 gene duplication mutation and further, provide proof of princ

192 myeloid leukemia (AML) with internal tandem duplication mutation in the FMS-like tyrosine kinase 3 g

193 In patients with a PLP1 duplication mutation, the most common cause of Pelizaeus

194 nary rate, depending on whether and how gene duplication occurred.

195 er lineages and showed that two whole-genome duplications occurred in the Trochodendrales approximate

196 Centriole duplication occurs once in each cell cycle to maintain c

197 tive genomic hybridization showed a 22q11.23 duplication of 1.306 million base pairs.

198 The duplication of a 1.4 Mb segment surrounding this gene in

199 One is a duplication of a non-Y-linked, female-specifically expre

200 gs originated due to a Nematostella-specific duplication of a ShK-like2 ancestor, a neuropeptide-enco

201 a His-to-Arg mutation at amino acid 44 or a duplication of amino acids 26 to 39.

202 Here, we characterize a recent duplication of an avirulent gene-containing SM cluster,

203 induced cells cannot be explained by limited duplication of centrioles, instability of extra centriol

204 s disease (CMT1A, 1:4000) is associated with duplication of chromosome fragment 17p11.2-12, which res

205 guideline-developing organizations, to avoid duplication of effort, and to offer harmonized recommend

206 independently, leading to inconsistency and duplication of effort.

207 logenetic analysis revealed that the ancient duplication of EXO70A, one of which is always highly exp

208 8 was presented as a duplication of Fig.

209 of the pcbAB-pcbC-penDE complex and partial duplication of fragments of regulatory genes.

210 red within a few generations, leading to the duplication of hundreds of genes.

211 Novel genes can be created, for example, by duplication of large genomic regions or de novo, from pr

212 Duplication of LMNB1, or missense mutations increasing L

213 Duplication of mammalian genomes requires replisomes to

214 the essential replicative DNA polymerase for duplication of most archaeal genomes.

215 This position allows accommodation of the duplication of multilocus region 34 protein (Dom34)-depe

216 he contrary, there is also evidence for self-duplication of multinucleated myocytes, suggesting a mor

217 onal genetic evidence linking the origin and duplication of new vertebrate genes with the stepwise ev

218 The causative mutation is a 78-kb tandem duplication of PLAU.

219 this, we examined two elderly patients with duplication of PLP1 in whom the overall syndrome, includ

220 the persistent HIV reservoir as shown by the duplication of proviral integration sites.

221 Concomitantly, the duplication of several regions of late-replicating euchr

222 consisting of a 40-70 bp poly-A and an 11 bp duplication of the exonic region preceding the poly-A (X

223 pwise stwintronisation mechanism may involve duplication of the functional intron donor element of th

224 arise through resegmentation, though with a duplication of the number of vertebrae per body segment.

225 effector and regulatory genes but differ in duplication of the pcbAB-pcbC-penDE complex and partial

226 mutagenesis and artificial selection led to duplication of the penicillin pathway genes.

227 By definition, this leads to a duplication of the prognostic contribution of age.

228 Phelan-McDermid syndrome and autism, whereas duplication of the same gene leads to SHANK3 duplication

229 The consequences of duplication of the same genomic region have not been sys

230 Edn signalling was activated in NCCs before duplication of the vertebrate genome.

231 is tightly maintained by the once-per-cycle duplication of these organelles.

232 lly elongated their N-termini through tandem duplications of exon segments.

233 The draft assemblies contain several partial duplications of penicillin-pathway genes in all three P.

234 Its paralogs, which arose from ancient gene duplications of RAD51, have evolved to regulate and prom

235 marked by high rates of gene rearrangement, duplications of the control region and tRNA mutations.

236 CP2 protein underlies Rett syndrome, whereas duplications of the MECP2 locus cause MECP2 duplication

237 The effect of duplications on IQ is threefold smaller.

238 Novel genes can arise not only via duplication or mutation but also by acquiring foreign DN

239 occur between FAM230 and specific segmental duplication orientations within LCR22A and LCR22D, ultim

240 ne, with minor contributions from EPSPS gene duplication/overexpression.

241 ng these, 19 inversions flanked by segmental duplications overlap with recurrent copy number variants

242 a significant fraction of PSVs in segmental duplications overlaps with variants and adversely impact

243 and Npas4 are strongly implicated in 16p11.2 duplication pathology, and may represent potential targe

244 Tandem duplications play a key role in extending the repertoire

245 or Rosid clade provided evidence that tandem duplication played an important role in the expansion of

246 ferences in genomic organization of the ACE1 duplication process.

247 e findings indicate that Leishmania's genome duplication programme employs subtelomeric DNA replicati

248 evolutionary intermediates are lacking, gene duplications provide information on the order of events

249 Mice with 16p11.2 deletions or duplications recapitulate many core behavioral phenotype

250 ikely shared a common ancestor that, through duplication, recruitment, and diversification, evolved t

251 d stop gain variants, five had a deletion or duplication resulting in a frameshift, and one had a can

252 We find that gene duplications roughly doubled the proto-eukaryotic gene r

253 The quest for segmental duplications (SDs) in the reference sequence revealed ma

254 In one family the duplication segregated with ID across three generations.

255 and female (n = 938) carriers of 0.8-2.5 Mb duplications spanning STS, and non-carrier male (n = 192

256 After duplication, spindle MTOCs can be differentially inherit

257 Each duplication started at nucleotide 991, creating an addit

258 somes due to a failure in daughter centriole duplication, suggesting that Alms1a has a stem-cell-spec

259 ined numerous spliceosomal introns and large duplications, suggesting tight assimilation into host ge

260 22q11.2 duplication syndrome (Dup22q11.2) has reduced penetrance

261 duplication of the same gene leads to SHANK3 duplication syndrome, a disorder characterized by neurop

262 duplications of the MECP2 locus cause MECP2 duplication syndrome.

263 rs and earlier age at seizure onset in MECP2 duplication syndrome.

264 As a consequence of whole genome duplication, teleost fish have two ridA paralogs, while

265 oxygen affinity that existed before the gene duplication that generated distinct alpha- and beta-subu

266 We uncovered a whole-genome duplication that occurred in the Jurassic, early in the

267 inally, we confirmed an ancient whole-genome duplication that took place in a common ancestor of Jugl

268 count data, we detected 16 605 deletions and duplications that affect barley gene content by surveyin

269 They contained duplications that increased genome size by as much as 3.

270 evolution was shaped by ancient whole-genome duplications, the number, timing and mechanism of these

271 ar localizations, we propose that after gene duplication there will be partitioning of the alternativ

272 For gene duplication to be maintained, particularly in the small

273 5 and p16 provides conditions for centrosome duplication to become deregulated with consequences for

274 Cdc42 underwent gene duplication to produce two related proteins-RhoQ and Rho

275 They undergo self-templated duplication to reestablish centromeric chromatin followi

276 r phylogenetic tree reconciliation under the duplication-transfer-loss model that systematically addr

277 for 2 extra exons in HP2 that result in exon duplication undetectable by classic genome-wide associat

278 ads to an impaired neuronal positioning, the duplication variant might not be pathogenic.

279 SLA-1 duplication was observed in 33% of the chromosomes and w

280 ncestral functions are retained or lost post-duplication, we systematically replaced hundreds of esse

281 With the improved assembly of segmental duplications, we discovered new lineage-specific genes a

282 Two rounds of ancient whole-genome duplication were inferred in the C. salicifolious genome

283 ariants including deletions, insertions, and duplications were genotyped using whole-genome sequencin

284 ment indicated that these 67 kb heterozygous duplications were likely mediated by non-allelic homolog

285 cate the occurrence of a recent whole-genome duplication (WGD) event in mango.

286 Although whole genome duplication (WGD) has been suggested to facilitate adapt

287 that have or have not undergone whole-genome duplication (WGD).

288 s, including copy-neutral LOHs, whole-genome duplications (WGDs) and mirrored-subclonal CNAs.

289 y-number aberrations (CNAs) and whole-genome duplications (WGDs) are frequent somatic mutations in ca

290 Whole-genome duplications (WGDs) represent yet another type of dramat

291 olved their solid vertebrae following genome duplication, when a novel gene repressed ancestral spine

292 uence changes of the effector genes and gene duplication, whereas human-mediated changes through muta

293 insically linked to the process of chromatin duplication, which is required for regulating gene expre

294 All extant vertebrates share the first duplication, which occurred in the mid/late Cambrian by

295 rate of head-to-tail (tandem) short sequence duplications, which are independent of existing sequence

296 n additional 8-21% of the reads in segmental duplications with high confidence relative to Minimap2.

297 lly overcome this limitation, long segmental duplications with high sequence identity pose challenges

298 candidate causal variant as a ~20 kb tandem duplication within LYST, spanning exons 30 through to 38

299 icted to be insufficient for complete genome duplication within S phase.

300 This particular 22 bp duplication within the coding region of UGT1A1 can be a