ライフサイエンスコーパス: maternal allele

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

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

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

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

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

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

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

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

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

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

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

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

13 he paternal allele and hypomethylated on the maternal allele.

14 assume a paternal epigenetic pattern on the maternal allele.

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

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

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

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

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

20 completely inaccessible to nucleases on the maternal allele.

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

22 ls which contained only a single reactivated maternal allele.

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

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

25 printed, with preferential expression of the maternal allele.

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

27 imarily derived from the normally suppressed maternal allele.

28 2 are methylated exclusively on the silenced maternal allele.

29 printed, with preferential expression of the maternal allele.

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

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

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

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

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

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

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

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

38 were both preferentially expressed from the maternal allele.

39 of imprinting with some expression from the maternal allele.

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

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

42 tissue-specific promoter methylation on the maternal allele.

43 imulating paternal versus growth-suppressing maternal alleles.

44 ormally expressed from both the paternal and maternal alleles.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

78 The maternal allele becomes hypermethylated in this region d

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

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

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

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

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

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

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

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

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

88 The maternal allele carried a prevalent glutamic acid 474 to

89 Increased maternal allele CHG methylation was associated with incr

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

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

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

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

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

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

96 The maternal allele encoded a missense mutation, Cys338Tyr,

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

127 3A signals were also observed on one or both maternal alleles in a cell line carrying a maternal inte

128 Maternal alleles in cord blood were quantified with real

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

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

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

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

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

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

135 The maternal allele is expressed and the paternal allele is

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

176 4 and H3K4 dimethylation are enriched at the maternal alleles of these genes.

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

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

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

180 1, which encode Nesp55, are derived from the maternal allele only.

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

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

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

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

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

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

187 Maternal allele score was inversely associated with GWG

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

189 CTCF bound to the unmethylated maternal allele silences expression.

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

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

192 Maternal allele-specific expression is conserved only in

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

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

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

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

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

198 , 21 of 36 (58%) BWS patients showed loss of maternal allele-specific methylation of a CpG island ups

199 Maternal allele-specific methylation was largely erased

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

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

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

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

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

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

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

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

208 % incidence of reactivation of the imprinted maternal allele suggests that IGF2 expression is selecte

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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