ライフサイエンスコーパス: maternal allele

1 by removing 5-methylcytosine to activate the maternal allele.

2 s low levels of methylation on the expressed maternal allele.

3 tissue-specific promoter methylation on the maternal allele.

4 e, and H3 lysine 9 (H3K9) methylation of the maternal allele.

5 paternal allele and R844C in exon 19 on the maternal allele.

6 ts, but only when the mutations occur on the maternal allele.

7 ated region (DMR)] that is methylated on the maternal allele.

8 on 2 is needed for methylation of the active maternal allele.

9 not expressed in A9 cells that contained the maternal allele.

10 egions (DMRs) methylated specifically on the maternal allele.

11 d gene in mice with expression only from the maternal allele.

12 e normally unmethylated and silent wild-type maternal allele.

13 ME) gene, seed viability depends only on the maternal allele.

14 its mRNA is derived almost entirely from the maternal allele.

15 he paternal allele and hypomethylated on the maternal allele.

16 assume a paternal epigenetic pattern on the maternal allele.

17 llele, and H19 was expressed solely from the maternal allele.

18 osome while H19 is transcribed only from the maternal allele.

19 on of the 1.2 kb region had no effect on the maternal allele.

20 e translational start site, was found on the maternal allele.

21 dult brain with slightly more input from the maternal allele.

22 completely inaccessible to nucleases on the maternal allele.

23 on the paternal allele but methylated on the maternal allele.

24 ls which contained only a single reactivated maternal allele.

25 l of the cells with secondary loss of the Rb maternal allele.

26 e H19 gene is expressed exclusively from the maternal allele.

27 printed, with preferential expression of the maternal allele.

28 ent kinase inhibitor, are expressed from the maternal allele.

29 at hIC1 can functionally replace mIC1 on the maternal allele.

30 imarily derived from the normally suppressed maternal allele.

31 2 are methylated exclusively on the silenced maternal allele.

32 printed, with preferential expression of the maternal allele.

33 rmined, the de novo variants were all on the maternal allele.

34 netically silenced set of these genes in the maternal allele.

35 were subsequently shown to be located on the maternal allele.

36 at paternal genes are silenced on the future maternal allele.

37 at a high level, comparable with that of the maternal allele.

38 is and confers repression upon PWS-IC on the maternal allele.

39 ited a single CD45 mutation identical to the maternal allele.

40 methylated region (DMR) on the unmethylated maternal allele.

41 --cohesin associated with the non-methylated maternal allele.

42 er embryonic tissues, expression is from the maternal allele.

43 g restricts gene expression to a paternal or maternal allele.

44 were both preferentially expressed from the maternal allele.

45 of imprinting with some expression from the maternal allele.

46 ormally expressed from both the paternal and maternal alleles.

47 s that counteract the recessive, deleterious maternal alleles.

48 imulating paternal versus growth-suppressing maternal alleles.

49 hese genes that had >90% expression from the maternal allele (69 genes) or from the paternal allele (

50 One, inherited from a maternal allele, a T777 --> C point mutation in GPIbalph

51 recombination, whether from the paternal or maternal allele, activation of the imprinted maternal al

52 pression and functional imprinting, with the maternal allele active and the paternal allele relativel

53 thylation is abruptly acquired on the mutant maternal allele after implantation, a time when the embr

54 lfate reactivity differences specific to the maternal allele, along with an unusual chromatin structu

55 Because of imprinting, mutations on the maternal allele also cause obesity and hormone resistanc

56 inted; the gene is expressed mainly from the maternal allele and at high levels only during embryonic

57 enic variants typically arose de novo on the maternal allele and cluster in regions critical for spli

58 DMD bind CCCTC-binding factor (CTCF) on the maternal allele and have been proposed to attract methyl

59 Four repeats in the DMD bind CTCF on the maternal allele and have been proposed to recruit methyl

60 H19 gene is hypomethylated on the expressed maternal allele and hypermethylated on the silent patern

61 es the reciprocal expression of H19 from the maternal allele and Igf2 from the paternal allele.

62 of the Igf2 gene to shared enhancers on the maternal allele and inactivates H19 expression on the me

63 onserved CpG island is DNA-methylated on the maternal allele and is marked on the paternal allele by

64 d is extensively methylated on the repressed maternal allele and is unmethylated on the expressed pat

65 zygosity (LOH) or by hypermethylation of the maternal allele and it is possible that there might be c

66 2), we found that Gtl2 is expressed from the maternal allele and methylated at the 5' end of the sile

67 PWS-ICR restores the PEG expression from the maternal allele and reorganizes the methylation patterns

68 promoter that is normally methylated on the maternal allele and unmethylated on the paternal allele,

69 ere specifically deposited on hypomethylated maternal alleles and hypermethylated paternal alleles, r

70 ring system that increases the expression of maternal alleles and represses paternal alleles in respo

71 eterozygotes for HSD17B4 c.650A>G (p.Y217C) (maternal allele) and HSB17B4 c.1704T>A (p.Y568X) (patern

72 ice site mutation in intron 24, GGT --> GTT (maternal allele), and a new 3' splice site mutation in i

73 tained during postzygotic development on the maternal allele, and erased in primordial germ cells.

74 an enhancer, H19 is expressed only from the maternal allele, and Igf2 only from the paternally inher

75 H19 imprinting, thus leading to an inactive maternal allele, and indirectly to activation of the mat

76 d 11p15 is imprinted, with expression of the maternal allele, and that the maternal allele is disrupt

77 methylation status of H19 expressed from the maternal allele, and the expression and methylation stat

78 n, UBE3A is expressed predominantly from the maternal allele, and the paternal allele is silenced.

79 llele remains methylated and silent, but the maternal allele appears hypomethylated and active, expla

80 nstrate that at many ROS1 target regions the maternal alleles are demethylated by DME.

81 Likewise, more than half of the maternal alleles are hypermethylated prior to the resump

82 However, the remaining maternal alleles are not hypermethylated until the compl

83 e IGF2 promoters upstream of the reactivated maternal alleles are transcriptionally active in tumors.

84 lelically from either the paternal allele or maternal allele as a result of epigenetic modifications.

85 Ablating DNA methylation on the maternal allele at the Nap1l5 promoter increases the use

86 We have analyzed the transmission of maternal alleles at loci spanning the length of the X ch

87 The maternal allele becomes hypermethylated in this region d

88 n in Wilms' tumor and colon cancer where the maternal allele becomes hypermethylated.

89 ated during fetal stages, methylation of the maternal allele begins during perinatal stages and conti

90 r DMD2 were consistently imprinted, with the maternal allele being more methylated than the paternal

91 eletion disrupting Gsalpha expression on the maternal allele, but not the paternal allele, in the dor

92 In mice, Th is expressed from the maternal allele, but the parental origin of expression i

93 d in activation of SNRPN expression from the maternal allele, but was not accompanied by acetylation

94 ivity of this insulator is restricted to the maternal allele by specific DNA methylation of the pater

95 Loss of the paternal or the maternal alleles by deletion of the region or by unipare

96 in exon 3 and a cysteine substitution in the maternal allele (C245G) within exon 7, and the paternal

97 The maternal allele carried a premature stop codon in the fi

98 The maternal allele carried a prevalent glutamic acid 474 to

99 s an E3 ubiquitin ligase whose loss from the maternal allele causes the neurodevelopmental disorder A

100 Increased maternal allele CHG methylation was associated with incr

101 s are expressed but there is a bias with the maternal allele contributing 70-90% of mRNA.

102 BAA receptor beta3 subunits and is among the maternal alleles deleted in Angelman syndrome.

103 contrast, mice carrying the deletion on the maternal allele (DeltaNesp55(m)) showed loss of all mate

104 The maternal allele, designated alpha spectrin(LEPRA), conta

105 ch the affinity of CTCF for the unmethylated maternal allele directs the DNA binding of BORIS toward

106 Predominantly expressed from the maternal allele during embryogenesis, Grb10 encodes an i

107 The maternal allele encoded a missense mutation, Cys338Tyr,

108 AS is caused by mutation of the maternal allele encoding the ubiquitin protein ligase E3

109 In cDNA derived from the patient's maternal allele, exon 24 was deleted, resulting in a pre

110 Igf2 (paternal allele expressed) and Igf2r (maternal allele expressed) arose to regulate the relativ

111 While biased maternal allele expression has been observed in numerous

112 aternally inherited through the preferential maternal allele expression in the seed endosperm of ALLA

113 This suggests that there is an increased maternal allele expression of Igf2 (loss of imprinting)

114 DME activates maternal allele expression of the imprinted MEDEA (MEA)

115 DME is required for maternal allele expression of the imprinted MEDEA (MEA)

116 yos, and ectopic removal of H3K27me3 induces maternal allele expression.

117 romosomal arms, indicated the absence of the maternal allele for all informative markers tested on ch

118 dosperm are caused by hypomethylation of the maternal allele for both MEGs and PEGs in all cases test

119 The XP65BE maternal allele had a single base missense mutation (G28

120 o justify the functional compromise that the maternal allele has become epigenetically repressed rath

121 e, which is normally expressed only from the maternal allele, have increased serum and tissue levels

122 LRE3 allele that was identical to one of the maternal alleles; however, the patient's insertion match

123 The AS-SRO element generates maternal allele identity by epigenetically inactivating

124 ng centers become DNA methylated and acquire maternal allele identity in oocytes in response to trans

125 ies of the AS-SRO, the element necessary for maternal allele identity.

126 methylated in the oocyte and silenced on the maternal allele in about 75% of humans worldwide.

127 tional start site) is methylated only on the maternal allele in all adult somatic tissues and in earl

128 anscript, TFPI2, which is expressed from the maternal allele in both humans and mice.

129 UBE3A is transcribed predominantly from the maternal allele in brain, but is expressed from both all

130 lically in testis but predominantly from the maternal allele in brain, while cow Zim2 is expressed bi

131 printing, being expressed primarily from the maternal allele in certain tissues.

132 vo (c.350A>G, p.(Gln117Arg)) mutation in the maternal allele in family 2.

133 ost tissues, and at levels comparable to the maternal allele in fetal brain and some embryonal tumors

134 re, we show that following disruption of the maternal allele in mice, the labyrinthine volume was inc

135 nal allele and the unmethylated state of the maternal allele in neonatal and adult tissues.

136 f gene expression from the normally silenced maternal allele in neurons derived from PWS iPSCs, compa

137 e E3 ubiquitin-protein ligase UBE3A from the maternal allele in neurons.

138 tissues, but expressed exclusively from the maternal allele in neurons.

139 region, is imprinted and expressed from the maternal allele in normal development.

140 y secondary imprinted DNA methylation on the maternal allele in post-implantation ExE, while being co

141 In mice G(s)alpha is expressed only from the maternal allele in renal proximal tubules (the site of P

142 ed that expression of p73 was limited to the maternal allele in RNA from fetal pancreas and thymus, d

143 c manner, being primarily expressed from the maternal allele in some tissues, such as renal proximal

144 liver and Sgce is weakly expressed from the maternal allele in the brain.

145 e is strongly preferential expression of the maternal allele in various mouse tissues at fetal stages

146 3A signals were also observed on one or both maternal alleles in a cell line carrying a maternal inte

147 Maternal alleles in cord blood were quantified with real

148 sequent hypermethylation of the paternal and maternal alleles in the male germline occurs at differen

149 bias is due to preferential transcription of maternal alleles in the zygote, rather than inheritance

150 as expressed IGF2 (2) the normally imprinted maternal allele is active in the tumors in which the pat

151 embryogenesis, RLIM/Rnf12 expressed from the maternal allele is crucial for the development of extrae

152 ression of the maternal allele, and that the maternal allele is disrupted in rare BWS patients with b

153 nt-of-origin effects, in which the wild-type maternal allele is essential and the paternal allele is

154 inted RSVIgmyc transgene, methylation of the maternal allele is established in the oocyte and invaria

155 The maternal allele is expressed and the paternal allele is

156 ez1 gene in maize is imprinted such that the maternal allele is expressed in the endosperm while the

157 allele is unmethylated, whereas the silenced maternal allele is fully methylated at the CpG sites stu

158 rst of these mutants, designated awake1, the maternal allele is required for entry into strongly dorm

159 sting that removal of DNA methylation of the maternal allele is required for the proper expression of

160 clusively from the paternal allele while the maternal allele is silent and methylated.

161 d suggest that epigenetic suppression of the maternal allele is the underlying mechanism of the impri

162 ntrolled by the H19/IGF2:IG-DMR (IC1), whose maternal allele is unmethylated and acts as a CTCF-depen

163 Also imprinted (expressed from the maternal allele) is the Igf2r gene on chromsome 17 encod

164 o abnormal activation of the normally silent maternal allele, is a common human epigenetic population

165 pment in humans and mice; hence, loss of the maternal allele largely eliminates neuronal expression o

166 anner, as loss of the peripherally expressed maternal allele leads to significant fetal and placental

167 fspring, with preferential expression of the maternal allele, like the human homologue.

168 In this study, we show that maternal alleles marked by H3K27me3 in the Arabidopsis e

169 In contrast, maternal alleles marked by H3K27me3, H3K9me2, and CHG me

170 se model system, used neoR as a noninherited maternal allele marker of maternal cells to detect and q

171 s aberrant activation of the normally silent maternal allele, modifies the risk of intestinal neoplas

172 Activation of the Fie1 maternal allele occurs around two days after pollination

173 This requirement for a functional maternal allele of AtLETM2 was confirmed using direct se

174 n preferential expression of the paternal or maternal allele of certain genes.

175 ver, demethylation induced activation of the maternal allele of IGF2 in opossum differs from the deme

176 maternal allele, activation of the imprinted maternal allele of Igf2 was observed.

177 onal repressor acting on the normally silent maternal allele of IGF2.

178 , allowing activation of the normally silent maternal allele of IGF2.

179 the mouse have established that loss of the maternal allele of Igf2r results in disproportionate gro

180 Unlike in A. thaliana, the maternal allele of many A. lyrata PEGs was hypermethylat

181 ion as judged by re-activation of the silent maternal allele of Peg1/Mest imprinted gene in the somat

182 activate expression from the normally silent maternal allele of SNORD116 in neurons derived from PWS

183 Analysis of seeds carrying a mutant maternal allele of stt1 over a deletion of the paternal

184 IGF2) gene, silencing of the normally active maternal allele of the H19 gene, and aberrant methylatio

185 Thus, the imprinted maternal allele of the ICR may be a suppressor antagonis

186 lso observed a delay in reprogramming of the maternal allele of the imprinted H19 gene in spermatogon

187 onstrate that CTCF binds to the unmethylated maternal allele of the imprinting control region (ICR) i

188 T involves activation of the normally silent maternal allele of the insulin-like growth factor-II (IG

189 t1 coincided with loss of methylation on the maternal allele of the KvDMR1 locus, a phenotype often a

190 Mutations or deletions of the maternal allele of the UBE3A gene cause Angelman syndrom

191 disabilities, and seizures, occurs when the maternal allele of the UBE3A gene is disrupted, since th

192 mmonly caused by deletion or mutation of the maternal allele of the UBE3A gene, with behavioral pheno

193 sorder caused by deletion or mutation of the maternal allele of the ubiquitin protein ligase E3A (UBE

194 ation of imprinted XCI requires a functional maternal allele of the X-linked gene Rnf12, which encode

195 rder caused by the loss of function from the maternal allele of UBE3A, a gene encoding an E3 ubiquiti

196 caused by loss-of-function mutations in the maternal allele of UBE3A, a gene that encodes an E3 ubiq

197 chromosomal deletions that remove the entire maternal allele of UBE3A.

198 rs to the unequal expression of paternal and maternal alleles of a gene in sexually reproducing organ

199 f the preferential expression of paternal or maternal alleles of imprinted genes.

200 ited missense mutations on both paternal and maternal alleles of MYH6, encoding myosin heavy chain 6,

201 lation maintains or reinforces repression of maternal alleles of PEGs.

202 The maternal alleles of the imprinted H19 gene are active an

203 4 and H3K4 dimethylation are enriched at the maternal alleles of these genes.

204 n-specific deletion of the paternal, but not maternal, allele of the paternally-biased Bcl-x, (Bcl2l1

205 f increased nuclease hypersensitivity on the maternal allele, one of which coincides with the AS mini

206 ated by use of cell lines from PWS patients (maternal allele only) and Angelman syndrome (AS) patient

207 1, which encode Nesp55, are derived from the maternal allele only.

208 G(s)alpha is imprinted, with the maternal allele preferentially expressed in adipose tiss

209 erential DNA methylation of the paternal and maternal alleles regulates the parental origin-specific

210 pmental means--will have faced selection for maternal allele repression.

211 and H3K4me3 specifically marked paternal and maternal alleles, respectively.

212 The c.488T>C variant on the maternal allele results in a valine to alanine substitut

213 cted to the paternal allele, with the silent maternal allele retaining methylation at the WT1 antisen

214 s cause domain-wide "paternalization" of the maternal allele's chromatin composition.

215 Maternal allele score was inversely associated with GWG

216 The inverse association of maternal allele score with GWG in the first 18 wk requir

217 Birth weight and maternal allele scores for birth weight (derived from ge

218 find any evidence for an association between maternal allele scores for birth weight and offspring ne

219 ate the potential causal association between maternal allele scores for birth weight and offspring ne

220 paternal allele is hypermethylated while the maternal allele shows low levels of methylation in E9.5

221 CTCF bound to the unmethylated maternal allele silences expression.

222 The transgene exhibited maternal allele-specific DNA hypermethylation acquired d

223 The imprinted mouse H19 gene exhibits maternal allele-specific expression and paternal allele-

224 Maternal allele-specific expression is conserved only in

225 inct GME of ZIX that involves mechanisms for maternal allele-specific expression that are independent

226 3 on lysine 27 (H3K27me3) mediates autosomal maternal allele-specific gene silencing and has an impor

227 on at the H19 ICR and promoter/gene body and maternal allele-specific H3K27 trimethylation at the Igf

228 at are devoid of DNA methylation but harbour maternal allele-specific H3K27me3.

229 ing CTCF binding in the ICR reduced normally maternal allele-specific H3K9 acetylation and H3K4 methy

230 reduced CDKN1C expression related to loss of maternal allele-specific methylation (LOM) of the differ

231 , 21 of 36 (58%) BWS patients showed loss of maternal allele-specific methylation of a CpG island ups

232 Maternal allele-specific methylation was largely erased

233 nscripts in several known imprinted domains: maternal allele-specific transcripts downstream of Grb10

234 is shown by Venkatraman et al. (2013), using maternal-allele-specific deletion of the differentially

235 We observed the presence of maternal-allele-specific dimethylsulfate and DNase I foo

236 e show that DME is responsible for endosperm maternal-allele-specific hypomethylation at the MEA gene

237 Although the preferential loss of maternal alleles suggested that differential allelic exp

238 oocytes and could only be expressed from the maternal allele suggesting that their genomic imprints w

239 ost-fertilization processes dependent on the maternal allele, suggesting that genes expressed from th

240 utosomal loci all exhibited an excess of the maternal allele, suggesting that these interactions may

241 % incidence of reactivation of the imprinted maternal allele suggests that IGF2 expression is selecte

242 ropy with the fetal effects on birth weight: maternal alleles that increase gestational duration have

243 red with paternal transmission, noninherited maternal alleles that may work through maternal microchi

244 While the P1 transcript is derived from the maternal allele, the P1-antisense (Gnas-as) is derived o

245 We mapped the 2p13 breakpoint on the maternal allele to a genomic fragment of 1.7 kb which co

246 ess one expects a very rare or fairly common maternal allele to increase offspring disease risk.

247 er, changes in DNA methylation may cause the maternal allele to lose imprinting and trigger cell prol

248 Thus the H19 DMR was needed on the maternal allele to protect the Igf2 DMRs 1 and 2 from me

249 avoiding erroneous assignment of contaminant maternal alleles to the fetus.

250 K9 and reduced DNA methylation, changing the maternal allele toward a more paternal epigenotype.

251 nal allele and c.610G>T (p.Gly204Cys) on the maternal allele was identified among a group of unresolv

252 r region, provided evidence that the mutated maternal allele was not deleted.

253 this region, preferential methylation of the maternal allele was observed; however, there were no rep

254 ernal allele in skeletal muscle, whereas the maternal allele was silent.

255 PN exon 1, which is methylated on the silent maternal allele, was associated with acetylated histones

256 Heterozygous mice inheriting the mutated maternal allele were indistinguishable from their wild-t

257 Significant biases for maternal alleles were detected on 5 (of 12) chromosomes

258 nearly 100% of transcripts derived from the maternal allele; whereas 24 loci (14%) escaped inactivat

259 amily, R42X was shown to be inherited on the maternal allele which lacked this mutation, suggesting t

260 CDKN1C likely drive their expression on the maternal allele, while a weaker interaction involving th

261 X-linked diseases, as males inherit a single maternal allele, while females express maternal and pate

262 found H3K27me3 is strongly biased toward the maternal allele with some associated with DNA methylatio

263 the patient's hematopoietic stem cells, the maternal allele with the duplication of exons 2-6 sponta