ライフサイエンスコーパス: X-inactivation

1 e of Xist, the noncoding RNA responsible for X inactivation.

2 odification associated with genes subject to X inactivation.

3 inery is not essential for the initiation of X inactivation.

4 a unique role in chromatin regulation beyond X inactivation.

5 ISH indicate that transgenic Jarid1c escapes X inactivation.

6 novel (epigenetic) situation with respect to X inactivation.

7 nting, paramutation, polycomb silencing, and X inactivation.

8 elia of hemizygous transgenic females due to X inactivation.

9 l repression, heterochromatin formation, and X inactivation.

10 cell selection pressures on the mechanism of X inactivation.

11 m repression during development but not from X inactivation.

12 but was absent from four regions that escape X inactivation.

13 omain are very similar to those of imprinted X inactivation.

14 enes have previously been reported to escape X inactivation.

15 replicate asynchronously before the start of X inactivation.

16 t gene deletions result in completely skewed X inactivation.

17 on timing does not play a role in skewing of X inactivation.

18 nd links H2A ubiquitination to initiation of X inactivation.

19 e inner cell mass (ICM), undergo only random X inactivation.

20 the initiation of both imprinted and random X inactivation.

21 e a hypothesis for the evolution of germline X inactivation.

22 d how Xist is regulated at the initiation of X inactivation.

23 cifically in the choice or the initiation of X inactivation.

24 o lost in Ezh2 mutants, suggesting a role in X inactivation.

25 e transcription prior to the onset of random X inactivation.

26 s a role for H3-K27 methylation in imprinted X inactivation.

27 n for mutations in novel factors involved in X inactivation.

28 xt of hypotheses which address the spread of X inactivation.

29 ist gene, has been shown to be essential for X inactivation.

30 e somatic tissue Enox partially escapes from X inactivation.

31 chromosome in female cells, a process termed X inactivation.

32 ponsible for antisense activity in imprinted X inactivation.

33 tive X chromosome and is required in cis for X inactivation.

34 he active alleles and with genes that escape X inactivation.

35 A expression in cis during the initiation of X inactivation.

36 inactivation compared with those that escape X inactivation.

37 e to asymmetric expression in the Xic during X inactivation.

38 ethylation occurs rapidly after the onset of X inactivation.

39 ist in cells subject to imprinted and random X inactivation.

40 in early human development: X dampening and X inactivation.

41 epigenetic syndromes such as BWS and skewed X-inactivation.

42 cations for proposed mechanisms of imprinted X-inactivation.

43 sion to fitness in females subject to random X-inactivation.

44 e X-Y pairing pseudoautosomal regions escape X-inactivation.

45 ave a proven role in dosage compensation via X-inactivation.

46 nvolved in the initiation and maintenance of X-inactivation.

47 s, whereas overdosage of Tsix/Xite inhibited X-inactivation.

48 onsistent with the Lyon hypothesis of random X-inactivation.

49 chromosome in female embryos at the onset of X-inactivation.

50 mutant X-chromosomes fail to undergo ectopic X-inactivation.

51 oinsufficiency of genes that normally escape X-inactivation.

52 Using the %DHR(+) value as the criterion for X inactivation, 78% of patients had levels of inactivati

53 ingle X-linked gene that produces, by random X inactivation, a patchy mosaic of spectrally distinct c

54 c ectoderm development protein) in imprinted X inactivation, a similar role in random X inactivation

55 Before X inactivation, all of these Xa gene body-methylated sit

56 nces are believed to facilitate spreading of X inactivation along the chromosome, we compared the rep

57 mutations which did not affect randomness of X inactivation also did not exhibit ectopic sense transc

58 espite remarkable variation in the spread of X inactivation among the five cases there was good corre

59 re silenced by X inactivation, some "escape" X inactivation and are expressed from both active and in

60 ring initiation of both imprinted and random X inactivation and demonstrate that H3-K27 methylation i

61 gions, suggesting a role in maintaining both X inactivation and escape domains.

62 To survey X inactivation and escape in mouse, we performed RNA seq

63 The variant histone macroH2A helps maintain X inactivation and gene silencing.

64 Random X inactivation and genomic imprinting are epigenetic all

65 The mammalian epigenetic phenomena of X inactivation and genomic imprinting are incompletely u

66 epigenetic repressor with described roles in X inactivation and genomic imprinting, but Smchd1 is als

67 iated maintenance of two epigenetic systems--X inactivation and genomic imprinting--using the genes A

68 Pairing occurs transiently at the onset of X inactivation and is specific to the X-inactivation cen

69 Together, the results of the X inactivation and mRNA studies illustrate how this X-li

70 lays a key role in diverse processes such as X inactivation and oncogenesis.

71 use to identify specific factors involved in X inactivation and report two genetically distinct autos

72 Our results implicate mPRC1 in X inactivation and suggest that the regulated assembly o

73 However, some genes escape X-inactivation and are expressed from both the active an

74 n CTCF sites draws further parallels between X-inactivation and autosomal imprinting.

75 RTT patients' iPSCs are able to undergo X-inactivation and generate functional neurons.

76 silence gene expression in processes such as X-inactivation and imprinting.

77 hich X-linked genes typically undergo random X-inactivation and lack Y-linked homologues.

78 manifest phenotypes despite 100% skewing of X-inactivation and normal MECP2 RNA levels in peripheral

79 We have performed X-inactivation and sequence analyses on 350 kb of sequen

80 Meiotic X-inactivation and sexual antagonism can only partly acc

81 complex and its role in Hox gene silencing, X inactivation, and cancer metastasis.

82 xpression pattern was consistent with random X inactivation, and imprinted X inactivation can clearly

83 to autosomes and avoided the spermatogenesis X inactivation, and suggest the important role of genome

84 ly to contain a cluster of genes that escape X inactivation, and we compared this region with the reg

85 Xist is required and sufficient for X inactivation, and Xist gene deletions result in comple

86 t regulate and interact with Xist to control X-inactivation, and closer to an understanding of the mo

87 maintenance of pericentric heterochromatin, X-inactivation, and germ cell differentiation.

88 ic expression, including genomic imprinting, X-inactivation, and random monoallelic expression of aut

89 ion during the initiation and maintenance of X-inactivation, and that YY1 binds directly the Xist 5'

90 ed by the repression of Xist, the trigger of X-inactivation, and the upregulation of its antisense co

91 est that symptom severity may be dictated by X-inactivation, and thus a higher percentage of cells pr

92 X-inactivation appears to be triggered upon differentiat

93 s of these factors are specific to embryonic X inactivation as neither genomic imprinting of multiple

94 he autosomes, leading eventually to germline X inactivation as the X chromosome becomes 'demasculiniz

95 Mouse PRC2 (mPRC2) has been implicated in X inactivation, as mPRC2 proteins transiently accumulate

96 ndom class include X-linked genes subject to X inactivation, as well as a number of autosomal genes,

97 MR) disorders, we used the androgen receptor X-inactivation assay to determine X-inactivation pattern

98 dosage compensation requires two mechanisms: X inactivation balances X gene output between males (XY)

99 obably related to differential (escape from) X-inactivation between tissues.

100 expression showed no evidence of defects in X inactivation but did identify genes that have increase

101 This second form of X-inactivation, called meiotic sex chromosome inactivati

102 echanism is that heterochromatization during X inactivation can be blocked by boundary elements.

103 nt with random X inactivation, and imprinted X inactivation can clearly be excluded.

104 cetylation and histone methylation show that X inactivation can spread in the absence of cytogenetic

105 In females, erasure follows loss of X inactivation, causing X dosage excess.

106 icate that the human blastocyst contains pre-X-inactivation cells and that this state is preserved in

107 of inactivation requires elements within the X inactivation center (Xic) on the X chromosome that inf

108 enes did not correlate with proximity to the X inactivation center or the Xist gene locus.

109 Within the X inactivation center region of the X chromosome, previo

110 Tsix and Xite RNAs target CTCF to the X inactivation center, thereby inducing homologous X chr

111 specific regions of the Xi, including at the X inactivation center.

112 ucture across the 100-kb region of the mouse X-inactivation center (Xic) and map domains of specializ

113 Once protein-coding, the X-inactivation center (Xic) is now dominated by large no

114 ed comparative analysis across the candidate X-Inactivation Center (XIC) region and the XIST locus in

115 ugh inactivation is known to commence at the X-inactivation center (Xic), how it propagates remains u

116 nd quantitative RNA FISH for TADs within the X-inactivation center (Xic), we dissect the relationship

117 origins of DNA replication (ORIs) within the X-inactivation center (Xic).

118 trolled by a specialized region known as the X-inactivation center (Xic).

119 nderstanding of the epigenetic switch at the X-inactivation center and the molecular aspects of chrom

120 female ESCs shows that genes proximal to the X-inactivation center are silenced earlier than distal g

121 Autosomes carrying ectopic X-inactivation center sequences are also targeted to the

122 ESCs identifies three regions distal to the X-inactivation center that escape XCI.

123 Here, we discover a cis element in the mouse X-inactivation center that regulates Tsix.

124 ies of most genes that escape XCI and at the X-inactivation center, validating this epigenetic mark a

125 ferentially methylated domains (DMDs) at the X-inactivation center, we used bisulfite sequencing and

126 es a region of the X chromosome known as the X-inactivation center, which contains the Xist gene and

127 set of X inactivation and is specific to the X-inactivation center.

128 is induced by the XIST gene within the human X-inactivation center.

129 Exemplary cases are lncRNAs within the X-inactivation center.

130 Polycomb repressive complex 2 (PRC2) to the X-inactivation centre (Xic).

131 Genes close to the X-inactivation centre show the greatest degree of inacti

132 e, two regulatory noncoding RNA genes of the X-inactivation centre, and also complexes with XCI trans

133 ding sites of genomic imprinting, and at the X-inactivation centre, suggesting a common mode of actio

134 e analyzed the role of replication timing in X inactivation choice.

135 for the inactive alleles of genes subject to X inactivation compared with the active alleles and with

136 es around X-linked genes that are subject to X inactivation compared with those that escape X inactiv

137 he number of genes on the X chromosome where X-inactivation dictates RMAE of X-linked genes.

138 nsistent with the XIST-mediated mechanism of X inactivation discovered previously in mice.

139 Genes that escape X inactivation do not cluster but are located near the p

140 es, one each from the mother and father, and X inactivation does not occur until after implantation.

141 ecies is likely the result of pressures from X inactivation, dosage compensation, and sexual antagoni

142 omosome undergo extreme secondary non-random X inactivation, eliminating the majority of cells that e

143 ryotype, but also resulted from a failure in X-inactivation, emphasizing the importance in adaptation

144 X inactivation equalizes the dosage of gene expression b

145 X inactivation equalizes X-linked expression between mal

146 that the increased expression of one or more X-inactivation escapees activates Xist and, separately,

147 In mammals, X-inactivation establishes X-chromosome dosage parity be

148 signs correlated with a molecular pattern of X-inactivation favoring higher expression of the premuta

149 ted by manipulating a single gene, XIST (the X-inactivation gene).

150 In ephrin-B1 heterozygous mutants, X inactivation generates ephrin-B1-expressing and -nonex

151 X inactivation has evolved in the soma of mammalian fema

152 Recent studies of HOX genes and X inactivation have provided evidence for RNA cofactors

153 mono-allelic XIST expression and non-random X inactivation highlight the need for further culture im

154 pproximately 50% demonstrate markedly skewed X inactivation (i.e., patterns > or =80:20), compared wi

155 Mammalian X inactivation, imprinting, and allelic exclusion are cl

156 s of X inactivation, we examined patterns of X inactivation in a population of >1,000 phenotypically

157 chromosome (Xi) occurs during initiation of X inactivation in both extraembryonic and embryonic cell

158 fined the full extent of the domain escaping X inactivation in both species.

159 ls in women, together with apparent abnormal X inactivation in cancer cells, might provide an opportu

160 the Xi during initiation and maintenance of X inactivation in embryonic cells.

161 on in extraembryonic cells but not of random X inactivation in embryonic cells.

162 ipt (Xist) RNA during the earliest stages of X inactivation in embryonic stem cells and is dependent

163 ryonic lethality due to failure of imprinted X inactivation in extra-embryonic lineages.

164 This cellular mosaicism created by X inactivation in females is most often advantageous, pr

165 females than in XY males, due to incomplete X inactivation in females.

166 rformed detailed studies of the spreading of X inactivation in five unbalanced human X;autosome trans

167 velopment in worms, flowering in plants, and X inactivation in mammals.

168 ion might have been the precursor of somatic X inactivation in mammals.

169 itiates the chromosomal silencing process of X inactivation in mammals.

170 In this work, we analyzed skewing of X inactivation in mice with an Xist deletion encompassin

171 f such genes indicates that few genes escape X inactivation in mouse liver, in contrast to what has b

172 region located in exon 1 of Xist RNA during X inactivation in mouse.

173 al. report a parallel between male germline X inactivation in nematodes and a fungal gene-silencing

174 ted X inactivation, a similar role in random X inactivation in the embryo has remained an open questi

175 Neither skewing of X inactivation in the peripheral lymphocytes nor proteol

176 Because human TSIX cannot imprint X inactivation in the placenta, it serves as a mutant fo

177 Unlike X inactivation in the soma, this germline X inactivation

178 t this mutation results in primary nonrandom X inactivation in which the wild-type X chromosome is al

179 xpression analysis revealed that UTX escapes X-inactivation in female T-ALL lymphoblasts and normal T

180 interference mechanism, normally related to X-inactivation in females.

181 ion, suggest neural systems-level effects of X-inactivation in human brain, and point toward potentia

182 roots, but their relevance to imprinting and X-inactivation in mammals has not been proven.

183 Tsix is dispensable for inhibiting Xist and X-inactivation in the early embryo and in cultured stem

184 Here we show that imprinted X inactivation, in fact, occurs in all cells of early em

185 Avoiding male meiotic X inactivation, increasing level of expression of X-link

186 plicate early in S-phase before the onset of X inactivation, indicating that asynchronous replication

187 In human, escape from X inactivation involves an uninterrupted 235-kb domain o

188 Thus, skewed X inactivation is a relatively common feature of XLMR di

189 We conclude that escape from X inactivation is an intrinsic feature of the Jarid1c lo

190 new paradigm whereby a regional escape from X inactivation is due to the presence of elements that p

191 ts with more differentiated cell types where X inactivation is highly stable and generally irreversib

192 In the mouse placenta, where X inactivation is imprinted (the paternal X chromosome i

193 X inactivation is initiated by upregulation of the lncRN

194 X inactivation is known to be regulated in cis by Xite,

195 ke X inactivation in the soma, this germline X inactivation is not restricted to mammals but has evol

196 c imprinting of multiple genes nor imprinted X inactivation is perturbed.

197 X inactivation is random in embryonic and adult tissues,

198 X inactivation is regulated by a cis-acting master switc

199 X inactivation is the developmentally regulated silencin

200 Although X inactivation is thought to balance gene expression bet

201 Imprinted X-inactivation is a paradigm of mammalian transgeneratio

202 X-inactivation is proposed to explain the more severe ou

203 We also find that escape from X-inactivation is tissue-specific, with leg muscle showi

204 In mammals, X inactivation largely compensates for this, but in this

205 Here we show that X-inactivation markers can be used to separate hiPSC lin

206 ked Xist long non-coding RNA functions as an X inactivation master regulator; Xist is selectively upr

207 heterochromatin histone code associated with X inactivation may be more heterogeneous than previously

208 Thus, germline X inactivation might have been the precursor of somatic

209 ly probe PRC2's recognition of RNA using the X-inactivation model.

210 ell lineage analysis of taste buds from H253 X-inactivation mosaic mice.

211 Using X-inactivation mosaicism for the purine salvage gene Hpr

212 Escape from X inactivation occurred within, and X inactivation was m

213 generally accepted that paternally imprinted X inactivation occurs exclusively in extraembryonic line

214 IST orthologue has been found, how imprinted X-inactivation occurs is unknown.

215 insulators did not block random or imprinted X inactivation of the transgene, and both the insulator

216 ells of healthy women consistent with random X-inactivation of 8 embryonic hematopoietic stem cells.

217 After random X-inactivation of the lacZ transgene, the tongue of hemi

218 These include genes subject to X-inactivation, olfactory receptor (OR) genes, and sever

219 our model to the pairing of X chromosome at X inactivation, one of the best-known examples of DNA co

220 s suggest that Firre does not play a role in X inactivation onset.

221 favoring genes that avoided spermatogenesis X inactivation or by sexual antagonistic effects favorin

222 Here we visualize X-inactivation patches in human females directly.

223 y can be demonstrated only at the borders of X-inactivation patches, the patch size is crucial in det

224 n embryonic and adult tissues, but imprinted X inactivation (paternal X silencing) has been identifie

225 on of CpG islands (CGIs), a late step in the X inactivation pathway that is required for long-term ma

226 mptoms in females is not correlated with the X inactivation pattern studied in their blood.

227 gene secondary to selection for a favorable X inactivation pattern.

228 hat Xce is the only major locus to influence X inactivation patterns in the crosses analyzed.

229 all carriers of these mutations demonstrate X-inactivation patterns > or =80:20.

230 n receptor X-inactivation assay to determine X-inactivation patterns in 155 female subjects from 24 f

231 wth disadvantage, detected by disparities in X-inactivation patterns in female heterozygotes, depends

232 With alpha5(IV) expression reflecting X-inactivation patterns, it will be especially useful in

233 recombination in females that vary in their X-inactivation phenotype indicates that an allelic diffe

234 through this screen that segregate aberrant X-inactivation phenotypes and we mapped the mutation in

235 Whereas differences in X-inactivation potential result in epigenetic variabilit

236 study indicates that factors other than the X-inactivation process may impact on the expression of X

237 Here, we present a comprehensive X-inactivation profile of the human X chromosome, repres

238 antibody labeling profile, gene expression, X-inactivation profile, mitochondrial morphology, microR

239 ues, since it has the ability to reverse the X-inactivation program.

240 x Mus spretus cells with complete skewing of X inactivation, relying on expression of single nucleoti

241 mbryonic-stem-cell-specific complexes couple X-inactivation reprogramming and pluripotency, with Nano

242 We propose that imprinted X inactivation results from inheritance of a pre-inactiv

243 Escape from X inactivation results in expression of genes embedded w

244 cluding a model of sexual antagonism driving X inactivation (SAXI) [6-8] and a compensatory mechanism

245 replication timing in cell lines with skewed X inactivation showed no preference for one of the two X

246 domain was resistant to XCI and whether the X inactivation signal could spread across an extended re

247 nes that are either subject to or escape the X inactivation signal, we identified a number of common

248 that some autosomal DNA is resistant to the X inactivation signal.

249 demonstrate a strong association with skewed X inactivation, since all carriers of these mutations de

250 ion was seen to correlate with the degree of X inactivation skewing.

251 ational burden of both genes correlated with X-inactivation skewing but no significant association wi

252 omosome in mammalian females are silenced by X inactivation, some "escape" X inactivation and are exp

253 The long noncoding X-inactivation-specific transcript (Xist gene) is respon

254 Genes that escape X inactivation stand out as domains of macroH2A1 depleti

255 We show here that X-inactivation status in female hiPSC lines depends on d

256 an in brains of males, irrespective of their X-inactivation status.

257 , feeders are a significant factor affecting X-inactivation status.

258 em cell (hiPSC) lines exhibit variability in X-inactivation status.

259 sessment of tumor clonality with traditional X-inactivation studies.

260 data on taxa that have not evolved germline X inactivation, such as birds and butterflies, should sh

261 he eutherian X (except for genes that escape X inactivation), suggesting a role for these motifs in r

262 acent to Smcx in which genes were subject to X inactivation, suggesting that these repeats might be e

263 However, another form of X-inactivation takes place in the male, during spermatog

264 curate cytogenetic measures of the spread of X inactivation than late-replication.

265 novel model of lncRNA function in imprinted X-inactivation that may also apply to other genomically

266 On differentiation, and after the onset of X inactivation, the mark is reversed on the inactive X,

267 A well-documented case occurs in X inactivation, the mechanism by which X-linked gene exp

268 nes on the sex chromosomes themselves and in X inactivation-the developmental program that equalizes

269 X inactivation--the mammalian method of X chromosome dos

270 ects their methylation status at the time of X inactivation, these data suggest that unmethylated L1

271 Together with X inactivation, this mechanism would maintain balanced e

272 enotypic severity is modulated by non-random X-inactivation, thus making genotype-phenotype compariso

273 e inactive X chromosome (Xi) at the onset of X inactivation to methylate histone H3 lysine 27 (H3-K27

274 point, directly demonstrating the ability of X inactivation to spread in cis through autosomal DNA.

275 f a chromatin-based mechanism that restricts X-inactivation to cells with more than one X chromosome.

276 mRNA transcript, Eif2s3y, and the X-linked, X-inactivation transcript Xist.

277 ected for genes that are normally subject to X inactivation, transgene transcripts Tspyl2 and Iqsec2

278 To identify putative 'escape from X-inactivation tumor-suppressor' (EXITS) genes, we exami

279 Mammalian X inactivation turns off one female X chromosome to enac

280 tional dampening and initiated XIST-mediated X inactivation upon differentiation.

281 to remodel Xist chromatin and ensure random X-inactivation upon differentiation.

282 Here, we quantify X inactivation using RNA sequencing of placental tissue

283 , each of the 5' mutations causing nonrandom X inactivation was found to exhibit ectopic sense transc

284 ape from X inactivation occurred within, and X inactivation was maintained exterior to, the area enco

285 X inactivation was not highly skewed in wbc from the aff

286 f WT female ALS mice, suggesting that random X-inactivation was not influenced by Nox2 gene deletion.

287 luate the significance of skewed patterns of X inactivation, we examined patterns of X inactivation i

288 potential link between the RNAi pathway and X inactivation, we generated and analyzed Dicer-deficien

289 transposon sequence have been implicated in X-inactivation, we asked whether monoallelically express

290 -linked lacZ transgene that undergoes normal X-inactivation, we demonstrate that the placental defect

291 pattern of DNA methylation mirrors events of X-inactivation, we propose that differential methylation

292 omosome genes, whereas genes known to escape X inactivation were higher in XX females.

293 Male-biased mutations in genes that escape X-inactivation were observed in combined analysis across

294 occur in the inverse order of developmental X inactivation, whereas others are uncoupled from this s

295 o be skewing, in some ways resembling skewed X-inactivation, wherein one allele is more frequently ac

296 A subset of X-chromosome genes can escape X-inactivation, which would protect females from complet

297 nd dosage compensated by X up-regulation and X inactivation, while in the closely related mouse speci

298 ernally derived Dkc1 show extreme skewing of X-inactivation with the wild type X-chromosome active in

299 X inactivation would then serve to avoid hyper-transcrip

300 ans and rodents differ in how they carry out X inactivation (XI), the mammalian method to compensate

301 During X-inactivation, Xist accumulates in cis on the future in