ライフサイエンスコーパス: paternal allele

1 nal allele) and HSB17B4 c.1704T>A (p.Y568X) (paternal allele).

2 inactivates H19 expression on the methylated paternal allele.

3 as caused by specific down-regulation of the paternal allele.

4 the endosperm by maternal MEA silencing the paternal allele.

5 been proposed to recruit methylation on the paternal allele.

6 les), G(s)alpha is poorly expressed from the paternal allele.

7 ionally active maternal as compared with the paternal allele.

8 been proposed to attract methylation on the paternal allele.

9 ue' through embryonic transcription from the paternal allele.

10 specific imprinting with expression from the paternal allele.

11 tarted expressing Plag1 ectopically from the paternal allele.

12 tially expressed from either the maternal or paternal allele.

13 in the next generation independently of the paternal allele.

14 ish methylation and expression of the active paternal allele.

15 ormal kidney with expression confined to the paternal allele.

16 q32 that is expressed predominantly from the paternal allele.

17 ternal allele being more methylated than the paternal allele.

18 anscript were expressed exclusively from the paternal allele.

19 ient had an early stop codon mutation in the paternal allele.

20 e transcript from P2 is exclusively from the paternal allele.

21 on, as it is methylated only on the silenced paternal allele.

22 rinted and transcribed specifically from the paternal allele.

23 of HYMAI and is also expressed only from the paternal allele.

24 e and methylated at the 5' end of the silent paternal allele.

25 Peg3, Ocat is expressed exclusively from the paternal allele.

26 al allele by specific DNA methylation of the paternal allele.

27 ng stably transcribed either the maternal or paternal allele.

28 nitial mutation occurred on the maternal vs. paternal allele.

29 shows that ZNF127 is expressed only from the paternal allele.

30 duction, irrespective of the genotype of the paternal allele.

31 nal allele and hypermethylated on the silent paternal allele.

32 which is unmethyl-ated only on the expressed paternal allele.

33 al expression of a gene from its maternal or paternal allele.

34 h increased expression bias in favour of the paternal allele.

35 region of GPIbalpha, inherited from a mutant paternal allele.

36 can respond to that imprint by silencing the paternal allele.

37 animal, expression of Ipw is limited to the paternal allele.

38 omosome 11 is expressed exclusively from the paternal allele.

39 for imprinted transgenes and the endogenous paternal allele.

40 sidual mRNA expression is from the imprinted paternal allele.

41 connection and mediate gene silencing on the paternal allele.

42 einstates UBE3A by derepressing the silenced paternal allele.

43 in neural stem cells (NSCs) solely from the paternal allele.

44 allelic imbalance in expression favoring the paternal allele.

45 enter activates expression of genes from the paternal allele.

46 stimplantation by de novo methylation of the paternal allele.

47 9 from the maternal allele and Igf2 from the paternal allele.

48 factors (NRF's) and YY1 specifically on the paternal allele.

49 expression is primarily from the maternal or paternal allele.

50 enes that are expressed exclusively from the paternal allele.

51 ments involved in targeting silencing of the paternal allele.

52 F2) gene is expressed predominantly from the paternal allele.

53 directs the DNA binding of BORIS toward the paternal allele.

54 mprinted--monoallelically expressed from the paternal allele.

55 ons (DMRs), which are methylated only on the paternal allele.

56 enes that show transcriptional repression of paternal alleles.

57 2 is deleted, leading to reactivation of the paternal alleles.

58 d NDN expression was detected primarily from paternal alleles.

59 the differential expression of maternal and paternal alleles.

60 orphisms that could distinguish maternal and paternal alleles.

61 be expressed from both the maternal and the paternal alleles.

62 Further mapping distinguishes maternal and paternal alleles.

63 hripsis, and both de novo events occurred on paternal alleles.

64 ds to the silent maternal but not the active paternal alleles.

65 oice for expression between the maternal and paternal alleles.

66 specific regulatory regions on maternal and paternal alleles.

67 ed undescribed mutations in the maternal and paternal alleles.

68 rential DNA methylation between maternal and paternal alleles(1).

69 m the maternal allele (69 genes) or from the paternal allele (108 genes) in at least one reciprocal c

70 eterozygosity for a 2-bp deletion within the paternal allele (120delTG) within exon 3 and a cysteine

71 y or exclusively from either the maternal or paternal allele, a phenomenon that occurs in flowering p

72 MSI was also observed in paternal alleles, a surprising result since the alleles

73 A-KD P19 cells, as the normally unmethylated paternal allele acquired methylation that resulted in bi

74 tylation at the Gtl2 DMR, with the activated paternal allele adopting a maternal acetylation pattern.

75 locus in the maternal lines; in hybrids, the paternal allele alleviates this repression, which in tur

76 ts indicate that DNA hypermethylation on the paternal allele and allele-specific acquisition of histo

77 Val33Met) and c.1004G>C (p.Ser335Thr) on the paternal allele and c.610G>T (p.Gly204Cys) on the matern

78 ntial methylation are hypermethylated on the paternal allele and hypomethylated on the maternal allel

79 ociated RNA transcribed exclusively from the paternal allele and in the opposite orientation with res

80 R722X in exon 16 and R865W in exon 19 on the paternal allele and R844C in exon 19 on the maternal all

81 he stringency of the methylated state of the paternal allele and the unmethylated state of the matern

82 ain unrepaired, resulting in an undetectable paternal allele and, after mitosis, loss of one or both

83 IGF2 was expressed solely from the paternal allele, and H19 was expressed solely from the m

84 on and H3 lysine 4 (H3K4) methylation of the paternal allele, and H3 lysine 9 (H3K9) methylation of t

85 Nase I hypersensitive site, specific for the paternal allele, and six evolutionarily conserved (human

86 Individual methylation patterns of paternal alleles, and therefore all of the variation (no

87 ytes; (ii) detection of transcripts from the paternal allele; and (iii) detection of primary transcri

88 H19 gene are active and hypomethylated; the paternal alleles are inactive and hypermethylated.

89 Expression of the paternal allele arises from a different promoter region

90 We conclude that the incompatible paternal allele arose in the Mus musculus domesticus lin

91 lencing implies that PWS-IC functions on the paternal allele as a bidirectional activator.

92 differential expression between maternal and paternal alleles as a consequence of epigenetic modifica

93 f methylation erasure was evident on the H19 paternal allele at 9.5 dpc, most PGCs did not demonstrat

94 Inactivation of expression of the paternal allele at two maternally silent imprinted loci

95 ns that are associated with the maternal and paternal alleles at imprinted loci and provides evidence

96 A genetic interaction among maternal and paternal alleles at only a few loci prevents the fertili

97 contained identical single maternal and two paternal alleles at several independent loci.

98 er translation of protein from the wild-type paternal alleles: at the morula stage in embryos lacking

99 Although the paternal allele becomes hypermethylated during fetal sta

100 mental expression is maternal in origin, the paternal allele becomes increasingly active during devel

101 ncoded by an imprinted gene Cdkn1c, with the paternal allele being silenced.

102 printed in most normal tissues with only the paternal allele being transcribed.

103 ally during early endosperm development with paternal allele bias.

104 Expressed only from the paternal allele, both genes require the imprinting-cente

105 G and CpNpG nucleotides on the non-expressed paternal allele but has low levels of methylation on the

106 CpG island is completely unmethylated on the paternal allele but methylated on the maternal allele.

107 ked by prominent hypersensitive sites on the paternal allele, but is completely inaccessible to nucle

108 ts that are normally expressed only from the paternal allele, but that are biallelically expressed in

109 the maternal allele and unmethylated on the paternal allele, but that is unmethylated on both allele

110 on the maternal allele and is marked on the paternal allele by developmentally regulated bivalent ch

111 ent harboring biallelic variants in CRACR2A [paternal allele c.834 gaG> gaT (p.E278D) and maternal al

112 Expression of ARHI from the paternal allele can be down-regulated by multiple mechan

113 The paternal allele carried the E474Q mutation in 3 families

114 His paternal allele carries a novel deletion arising from re

115 terozygous for an additional mutation on the paternal allele changing glutamine 226 to arginine.

116 We tested for association between paternal allele compatibility/incompatibility and 167 ge

117 nct epigenetic modifications on maternal and paternal alleles, correlating with parental-specific tra

118 with random choice between the maternal and paternal alleles defines an unusual class of genes compr

119 Mice with paternal allele deletion of Gnas (Gnas(+/p-)) have defec

120 gion equivalent to delNESP55/delAS3-4 on the paternal allele (DeltaNesp55(p)) leads to healthy animal

121 on in the first exon of lambda5/14.1 and the paternal allele demonstrated three basepair substitution

122 ternal allele of stt1 over a deletion of the paternal allele demonstrates that both parental alleles

123 Mutation in the paternal allele, designated alpha spectrin(PRAGUE), is a

124 maternal Igf2r allele expression exceeds the paternal allele due to imprinting (silencing).

125 ), an imprinted gene expressed only from the paternal allele during development, was disrupted by gen

126 The paternal allele encoded a nonsense mutation, Arg303X, in

127 in near-equal amounts from both maternal and paternal alleles, even during the initial stages of embr

128 for an inactivating mutation in CD45 but the paternal alleles exhibited no detectable mutations.

129 Imprinting of Igf2 (paternal allele expressed) and Igf2r (maternal allele ex

130 Additionally, mechanisms controlling paternal allele expression appear to be faithfully repli

131 f2r(I1565A/I1565A)) suggested that wild-type paternal allele expression attenuates the heterozygote p

132 Here we show that suppression of ALN paternal allele expression is imposed by non-canonical R

133 le silencing are monoallelic versus 56% with paternal allele expression-this cardiac-specific phenome

134 from sperm, is acquired specifically on the paternal allele following implantation, and is dependent

135 within the brain Grb10 is expressed from the paternal allele from fetal life into adulthood and that

136 transcript 1) is expressed normally from the paternal allele, from which KVLQT1 transcription is sile

137 adult females RLIM/Rnf12 expressed from the paternal allele functions as a critical survival factor

138 cDNA derived from the patient's paternal allele had an additional 119-bp insertion betwe

139 Her paternal allele had not only the expected sickle-trait m

140 Interestingly, for both genes, the paternal allele has a stronger influence on the embryoni

141 marker(15) chromosome, and occasionally on a paternal allele in a cell line carrying a paternal inter

142 that suppress G(s)alpha expression from the paternal allele in a tissue-specific manner.

143 ied to be monoallelically expressed from the paternal allele in a variety of tissues.

144 acrine growth factor expressed only from the paternal allele in adult tissues.

145 from the FAM50B locus are expressed from the paternal allele in all human tissues investigated except

146 his region are exclusively methylated on the paternal allele in blastocysts.

147 Dlk was expressed exclusively from the paternal allele in both the embryo and placenta, but the

148 show that Zfp127 is expressed only from the paternal allele in brain, heart and kidney.

149 nted with expression occurring from just the paternal allele in brain.

150 ted genes that are expressed solely from the paternal allele in endosperm are targets of H3K27me3.

151 Ube3a is imprinted with silencing of the paternal allele in hippocampus and cerebellum in mice.

152 g of H19 is linked to hypomethylation of the paternal allele in human bladder cancer, unlike the situ

153 ession are reminiscent of that found for the paternal allele in humans (10%).

154 However, there was loss of silencing of the paternal allele in many endodermal and other tissues.

155 antisense (Gnas-as) is derived only from the paternal allele in most but not all tissues.

156 transcription occurs predominantly from the paternal allele in mouse and man (maternal imprinting).

157 Expression is exclusively from the paternal allele in neonatal brain.

158 that the TH/INS locus is expressed from the paternal allele in pre- and postnatal tammar wallaby tis

159 fected siblings only transcribed the mutated paternal allele in skeletal muscle, whereas the maternal

160 ich are methylated in spermatozoa and on the paternal allele in somatic cells, are differentially met

161 e preferentially methylated on the expressed paternal allele in somatic tissues and male germ cells,

162 H19 gene is hypermethylated on the inactive paternal allele in somatic tissues and sperm.

163 rinted and preferentially expressed from the paternal allele in the fetus.

164 n important growth factor expressed from the paternal allele in the yolk sac placenta of therian mamm

165 dder cancer and found hypomethylation of the paternal allele in two of six informative cases.

166 l allele, while females express maternal and paternal alleles in a mosaic manner.

167 Zac1 are expressed predominantly from their paternal alleles in all adult mouse tissues, except that

168 tes influence the regulation of maternal and paternal alleles in offspring.

169 expression of maternal alleles and represses paternal alleles in response to excess paternal genomic

170 allele and is unmethylated on the expressed paternal allele, in a wide range of fetal and adult soma

171 pression on the maternal allele, but not the paternal allele, in the dorsomedial nucleus of the hypot

172 the differential expression of maternal and paternal alleles, independently evolved in mammals and i

173 d expression is similar in both maternal and paternal alleles indicating no imprinting effect.

174 ability, are still expressed mainly from the paternal allele, indicating the imprinting of these two

175 on of mouse APeg3 is derived mainly from the paternal allele, indicating the imprinting of this antis

176 ulated by genomic imprinting, where only the paternal allele is active for transcription.

177 However, the imprint is not absolute, as the paternal allele is also expressed at low levels in most

178 ld-type maternal allele is essential and the paternal allele is dispensable for seed viability.

179 imprinting in Arabidopsis endosperm but the paternal allele is dispensable.

180 20me3), whereas the transcriptionally active paternal allele is enriched in H3K4me2 and H3K9 acetylat

181 the brain of Ube3a(m-/p+) mice, because the paternal allele is epigenetically silenced in most neuro

182 in exon 9, we have established that only the paternal allele is expressed in human placenta.

183 of expression of the UBE3A gene because the paternal allele is genetically imprinted.

184 e cloning sequencing analysis shows that the paternal allele is hypermethylated while the maternal al

185 ot in +/p- mice, demonstrating that the Gnas paternal allele is imprinted in this tissue.

186 allele is active in the tumors in which the paternal allele is knocked out and (3) all three of the

187 he neuronatin gene is imprinted and only the paternal allele is normally expressed in the adult.

188 lele is expressed in the endosperm while the paternal allele is not expressed.

189 The c.913C>T variant on the paternal allele is predicted to result in a premature st

190 CTCF binding to the paternal allele is prevented by repeat-mediated methylat

191 E3A, and in neurons its expression from the paternal allele is repressed by the UBE3A antisense tran

192 loss of maternal UBE3A in neurons, where the paternal allele is silenced by a convergent antisense tr

193 le of the UBE3A gene is disrupted, since the paternal allele is silenced in neurons by the UBE3A anti

194 dominantly from the maternal allele, and the paternal allele is silenced.

195 The maternal allele is expressed and the paternal allele is silent.

196 ific differential methylation: the expressed paternal allele is unmethylated, whereas the silenced ma

197 We propose that mosaicism for paternal alleles is a maternal effect that results from

198 rence in expression between the maternal and paternal alleles is associated with a corresponding diff

199 llelic DNA methylation of either maternal or paternal alleles is critical for embryonic growth and de

200 Mutation at PWS-IC on the paternal allele leads to gene silencing across the entir

201 44-base-pair deletion of the promoter on the paternal allele leads to the derepression of all silent

202 ucts suggest that this delayed expression of paternal alleles may be a global phenomenon.

203 e endosperm at regions that lack maternal or paternal allele methylation in wild-type endosperm.

204 sible molecular basis for the strong bias of paternal allele mutations and variable penetrance observ

205 rs contain a Y-chromosomal locus and/or new (paternal) alleles not present in adjacent normal uterine

206 showed that monoallelic expression from the paternal allele occurs by the 4-cell stage.

207 mplication, the failure of expression of the paternal allele of a single maternally imprinted gene th

208 anscriptional up-regulation of the remaining paternal allele of both Peg3 and Usp29, causing the incr

209 The possible expression and function of the paternal allele of Cdkn1c have remained little studied,

210 ich exhibit aberrant hypermethylation in the paternal allele of differential methylated regions (DMRs

211 was expressed in A9 cells that contained the paternal allele of human chromosome 1.

212 At 30 and 60 days post-weaning, however, the paternal allele of Igf2 DMR2 was hypermethylated in the

213 individuals with truncating mutations on the paternal allele of MAGEL2, a gene within the PWS domain.

214 ) which carries a truncating mutation on the paternal allele of Magel2, offering greater construct va

215 sults in activation of the normally silenced paternal allele of Mez1.

216 pigenetic function of CypA in protecting the paternal allele of Peg3 from DNA methylation and inactiv

217 We now show that the paternal allele of the Cdkn1c gene is expressed at a low

218 Our results thus show that the paternal allele of the Cdkn1c locus plays a key role in

219 confirmed that YY1 binds specifically to the paternal allele of the gene.

220 ygous inactivating germline mutations in the paternal allele of the GNAS gene.

221 y be a suppressor antagonistic to the active paternal allele of the ICR, suggesting a potential intra

222 Disruption of the paternal allele of the imprinted embryonic gene coding f

223 The germline epimutation persisted into the paternal allele of the soma, resulting in reduced Igf2 i

224 ne marks such as H3K27me3 are present on the paternal allele of these genes in both ES and TS cells.

225 ernally inherited allele, which silences the paternal allele of UBE3A in cis However, the mechanism r

226 for compounds that could reverse the silent paternal allele of Ube3a in neurons, but the mechanism o

227 In neurons, the paternal allele of UBE3A is intact but epigenetically si

228 The paternal allele of Ube3a is silenced by imprinting in ne

229 (a) Equal expression of maternal and paternal alleles of insulin-like growth factor 2 switche

230 DNA methylation distinguish the maternal and paternal alleles of many imprinted genes.

231 TET3 contributes to hypermethylation at the paternal alleles of several insulin secretion genes, inc

232 Genomic imprinting, by which maternal and paternal alleles of some genes have different levels of

233 The silent paternal alleles of the genes are marked in the trophobl

234 t probabilities of carrying the maternal and paternal alleles of the individual in which the gene is

235 e only) and Angelman syndrome (AS) patients (paternal allele only).

236 ed with acetylated histones on the expressed paternal allele only.

237 ssed in embryos and the adult brain from the paternal allele only.

238 humanised allele, expression of a wild-type paternal allele or loss of function of Igf2.

239 re expressed monoallelically from either the paternal allele or maternal allele as a result of epigen

240 In contrast, the methylation of the paternal allele originates during embryogenesis.

241 system-specific conditional deletion of the paternal allele (pat cKO) at the Cdkn1c locus resulted i

242 A de novo mutation developed in the paternal allele, producing compound heterozygosity.

243 ing, with the maternal allele active and the paternal allele relatively inactive, in many human and m

244 e been subject to evolutionary selection for paternal allele repression.

245 , resulting in silencing of the maternal and paternal alleles, respectively.

246 hylated maternal alleles and hypermethylated paternal alleles, respectively.

247 Paternal allele sharing across 18q21-23 was also signifi

248 In exploratory analyses, paternal allele sharing on 18q21 was significantly (P =.

249 pairs showed significantly (P =.016) greater paternal allele sharing.

250 of imprinted genes is that the maternal and paternal alleles show differences in methylation.

251 mpairs HSC self-renewal, whereas loss of the paternal allele shows no obvious phenotype.

252 w that only 5% of known imprinted genes with paternal allele silencing are monoallelic versus 56% wit

253 Unexpectedly, paternal-allele silencing is not controlled by DNA methy

254 rinted site, identified by RLGS-M, and shows paternal allele specific expression in mouse brain, stom

255 dkn1c upstream region, and Inpp5f_v2 DMR and paternal allele-specific CTCF binding at the Peg13 DMR.

256 ollowed by sequencing identify 76 genes with paternal allele-specific DNase I hypersensitive sites th

257 Paternal allele-specific expression at the imprinted Ras

258 bors an antisense transcript gene displaying paternal allele-specific expression, and the evolutionar

259 A paternal allele-specific gap was found along Kcnq1ot1, i

260 bits maternal allele-specific expression and paternal allele-specific hypermethylation.

261 ing at the Xist gene is essential to achieve paternal allele-specific imprinted X-chromosome inactiva

262 inted Rasgrf1 locus in mice is controlled by paternal allele-specific methylation at a differentially

263 with biallelic methylation at one region but paternal allele-specific methylation at another.

264 s did not demonstrate significant erasure of paternal allele-specific methylation until 10.5 dpc.

265 We detected paternal allele-specific transcripts downstream of Nespa

266 Here we define maternal and paternal allele-specific Ube3a protein expression throug

267 sequence outside of the DMD can attract some paternal-allele-specific CpG methylation 5' of H19 in pr

268 pt is imprinted, and expressed only from the paternal allele, suggesting that it may have a specific

269 wo DMRs in Igf2 are methylated on the active paternal allele, suggesting that they contain silencers.

270 IGF2 imprinting control region (hIC1) on the paternal allele that exhibited H19/Igf2 dysregulation to

271 On the paternal allele the patient had 3 structural gene abnorm

272 is inherited from sperm and retained on the paternal allele throughout development.

273 H19 gene is hypermethylated on the inactive paternal allele throughout development.

274 The 2-kb region is methylated on the paternal allele throughout spermatogenesis, suggesting t

275 rome and the potential to harness the intact paternal allele to correct the disease, no gene-specific

276 tase-polymerase chain reaction and found the paternal allele to lack exons 4 through 11 inclusive.

277 nally defined: Imprinting of Ded1 causes the paternal allele to set the pace of endosperm development

278 greater contribution of the maternal versus paternal allele to the development and homeostasis of ca

279 ct that Impt1 is relatively repressed on the paternal allele, together with data from other imprinted

280 While the expression from the paternal allele was comparable with patterns seen for th

281 s, the level of expression from maternal and paternal alleles was not binary, instead supporting a di

282 ereby an excess sharing of maternal, but not paternal, alleles was present.

283 AR-1), each normally expressed only from the paternal allele, was expressed in cells from PWS imprint

284 SNRPN intron 7, which is methylated on the paternal allele, was not associated with acetylated hist

285 ed double-strand breaks (DSBs) at the mutant paternal allele were predominantly repaired using the ho

286 loci and that a combination of maternal and paternal alleles were retained, indicating that mitotic

287 atocarcinogenesis and can substitute for the paternal allele when it is inactivated.

288 XLalphas is only expressed from the paternal allele, whereas G(s)alpha is biallelically expr

289 the imprinted Igf2 gene (expressed from the paternal allele), which encodes a growth-promoting facto

290 lice site mutation in intron 3, CAG --> CAA (paternal allele), which resulted in the activation of a

291 gene that is expressed exclusively from the paternal allele while the maternal allele is silent and

292 tor II (IGF2) is normally expressed from the paternal allele, while H19 and p57KIP2, a cyclin-depende

293 ncode Xlalphas and are derived only from the paternal allele, while transcripts from P3 encode the al

294 imprinted and is transcribed mainly from the paternal allele with highest expression levels in adult

295 ow that replacing the Rasgrf1 repeats on the paternal allele with region 2 allows both methylation an

296 IN lncRNA was expressed exclusively from the paternal allele, with the maternal counterpart being sil

297 ion of both transcripts is restricted to the paternal allele, with the silent maternal allele retaini

298 imprinted Rasgrf1 locus is methylated on the paternal allele within a differentially methylated domai

299 specifically to ensure the repression of the paternal allele, without a predominant effect on the epi