ライフサイエンスコーパス: uniparental

1 endosperms, where they exhibit preferential uniparental allelic expression.

2 ts related to XCI, including observations in uniparental and aneuploid embryos, is presented.

3 et of differentially expressed genes in both uniparental and biparental females and in uniparental ma

4 c nematodes that exhibit alternation between uniparental and biparental reproduction.

5 e bisulfite sequencing (uWGBS) of individual uniparental blastocysts detects 859 DMRs.

6 The therapeutic applicability of any uniparental cell type is uncertain due to the consequenc

7 larly evident in the androgenetic phenotype, uniparental cells of both parental origins can form adul

8 is approach capitalizes on the derivation of uniparental cells, such as parthenogenetic (PG) ES cell

9 trating that plus-specific Otu2p establishes uniparental chloroplast DNA inheritance.

10 icate that a transient hybrid state precedes uniparental chromosome elimination in maize HI.

11 ng only mutated or only wild-type CENH3), no uniparental chromosome elimination occurs during early e

12 esistant spontaneous mutants in progeny from uniparental control infections.

13 xpression of specific genes, which precludes uniparental development and underlies various diseases.

14 Investigating the consequences of uniparental differentiation, we showed the known paterna

15 Although uniparental diploid male progeny of virgin triploid fema

16 stribution of the frequency of trisomics and uniparental disomics (UPDs) among all litters.

17 to detect copy number alterations (CNAs) and uniparental disomies (UPDs) and performed comprehensive

18 fied by phenotype-driven assays in mice with uniparental disomies [1].

19 nomalies are consistent with those seen with uniparental disomies of the orthologous chromosome 14 re

20 Using mice carrying uniparental disomies or duplications, microarray screeni

21 mozygosity in the form of segmental acquired uniparental disomy (aUPD) has been described in follicul

22 ing chromosome 15q11-13 deletions (class I), uniparental disomy (class II), methylation imprinting ab

23 n human chromosome 14 deletions and maternal uniparental disomy (mUPD) 14 suggest that misexpression

24 from Mendelian inheritance patterns, such as uniparental disomy (UPD) and chimerism.

25 m arrays (SNP-A) can detect acquired somatic uniparental disomy (UPD) and other cryptic defects, even

26 Genomic regions of acquired uniparental disomy (UPD) are common in malignancy and fr

27 Mosaic aneuploidy and uniparental disomy (UPD) arise from mitotic or meiotic e

28 s, and the large number of reported cases of uniparental disomy (UPD) associated with an acrocentric

29 At diagnosis, acquisition of segmental uniparental disomy (UPD) by mitotic recombination has be

30 otically generated CGRs can lead to regional uniparental disomy (UPD) due to template switches betwee

31 patterns in a cohort of 57 individuals with uniparental disomy (UPD) for 19 different chromosomes, d

32 Mice with uniparental disomy (UPD) for Chr.

33 so identified chromosomal regions of somatic uniparental disomy (UPD) in cancer genomes.

34 knowledge, there are no published reports of uniparental disomy (UPD) in HS-RDEB; moreover, this case

35 Uniparental disomy (UPD) is a rare condition in which a

36 Acquired somatic uniparental disomy (UPD) is commonly observed in myelody

37 wild-type homologue through the compensatory uniparental disomy (UPD) mechanism.

38 Additionally, paternal uniparental disomy (UPD) of 11p15 was associated with he

39 Approximately 20% of BWS cases have uniparental disomy (UPD) of chromosome 11.

40 mately 2% of AS cases are caused by paternal uniparental disomy (UPD) of chromosome 15 and 2-3% are c

41 n that TNDM is associated with both paternal uniparental disomy (UPD) of chromosome 6 and paternal du

42 quent segregation analysis revealed maternal uniparental disomy (UPD) of chromosome 6.

43 Some TNDM patients exhibit paternal uniparental disomy (UPD) of chromosome 6q24, where at le

44 osome 1, we also identified a proband with a uniparental disomy (UPD) of the entire chromosome 1.

45 ut it also occurs either because of maternal uniparental disomy (UPD) of this region or, rarely, from

46 Uniparental disomy (UPD) refers to the presence of two c

47 ion of inherited sickle cell trait to SCD by uniparental disomy (UPD) resulting in mosaicism for SS a

48 A total of 8 uniparental disomy (UPD) segments were identified in the

49 Uniparental disomy (UPD) was a frequent event, especiall

50 Moreover, segmental uniparental disomy (UPD) was found in 20% of MDS, 23% of

51 Chr1), indicating that disease was caused by uniparental disomy (UPD) with isodisomy of the entire ma

52 chromosomal aberrations, such as regions of uniparental disomy (UPD), have been shown to harbor homo

53 Aneuploidy, notably uniparental disomy (UPD), homologous recombination defic

54 deletions for chromosome 15q11-q13, paternal uniparental disomy (UPD), imprinting defects or loss-of-

55 enetic alteration observed in tumor cells is uniparental disomy (UPD), in which a pair of homologous

56 Uniparental disomy (UPD), in which an individual contain

57 the remaining 25% of AS cases, no deletion, uniparental disomy (UPD), or methylation abnormality is

58 nd chromosome loss/reduplication, leading to uniparental disomy (UPD), represented more than half of

59 escue can restore euploidy but may result in uniparental disomy (UPD), the inheritance of both homolo

60 ssible in cancer: deletions and copy-neutral uniparental disomy (UPD).

61 rmed that these patterns were due to partial uniparental disomy (UPD).

62 es identified included H19 DMR epimutations, uniparental disomy 11p15 and H19 DMR imprinting center m

63 olymorphism arrays to JMML patients, somatic uniparental disomy 11q was detected in 4 of 49 patients;

64 rnal alleles by deletion of the region or by uniparental disomy 15 results in Prader-Willi syndrome (

65 growth retardation associated with maternal uniparental disomy 7 in humans.

66 h somatic SAMD9/9L compensatory mutations or uniparental disomy 7q (UPD7q), both associated with remi

67 it model is present in most patients with 7q uniparental disomy and a myeloproliferative phenotype, h

68 Uniparental disomy and abnormal DNA methylation were rul

69 eloproliferative neoplasms with 17q acquired uniparental disomy and in 2 of 2 myelofibrosis cases wit

70 nce risks are low when the child has de novo uniparental disomy and may be as high as 50% when the ch

71 nation of chromosome 6 can also give rise to uniparental disomy and neonatal diabetes, a situation si

72 egation of an imprinted region, resulting in uniparental disomy and PWS.

73 ental genes, and revealed mechanisms such as uniparental disomy and unstable trinucleotide repeats th

74 or Dlk1 and Gtl2 in the pathologies found in uniparental disomy animals, characterized by defects in

75 Uniparental disomy describes the inheritance of a homolo

76 thermore, we provide the first evidence that uniparental disomy due to somatic recombination constitu

77 how that the embryonic defects described for uniparental disomy embryos can be attributed to this one

78 he three-variant haplotype due to a maternal uniparental disomy event.

79 Focal lesions are the consequence of somatic uniparental disomy for a paternally inherited K(ATP) cha

80 Uniparental disomy for certain segments of specific chro

81 Using conceptuses with maternal or paternal uniparental disomy for chromosome 12 (UPD12), we found t

82 We have therefore generated conceptuses with uniparental disomy for chromosome 12, in which both copi

83 esis in normal conceptuses and in those with uniparental disomy for chromosome 12.

84 f JARID2 or EED in association with acquired uniparental disomy for chromosome 6p or 11q, respectivel

85 on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 [UPD(7)mat] explain

86 human chromosome 15q11-q13 and with paternal uniparental disomy for this region indicating that defic

87 We have developed a software tool to detect uniparental disomy from child-mother-father genotype dat

88 ith transient neonatal diabetes mellitus and uniparental disomy have had complete paternal isodisomy.

89 es confirmed that the 9q LOH was a result of uniparental disomy in 5 of 13 (38%) basal cell carcinoma

90 quired homozygosity in the form of segmental uniparental disomy in approximately 20% of acute myeloid

91 ted genes located within regions of acquired uniparental disomy in FL are identified.

92 deletions and/or inactivating mutations with uniparental disomy in tumor necrosis factor (TNF) recept

93 arbored hematopoietic revertant mosaicism by uniparental disomy of 7q, with loss of the mutated allel

94 atient represents the first case of paternal uniparental disomy of chromosome 1 and provides conclusi

95 maternal origin, and a few cases of paternal uniparental disomy of chromosome 15 have been reported.

96 esult of a deletion at 15q11-q13 or paternal uniparental disomy of chromosome 15.

97 d Prader-Willi syndrome patient samples with uniparental disomy of chromosome 15q11-q13 (n = 11) from

98 ofacial abnormalities, with partial paternal uniparental disomy of chromosome 6 involving the distal

99 al implications, since somatic mosaicism for uniparental disomy of chromosome 6 should also be consid

100 e is genetically heterogeneous, but maternal uniparental disomy of chromosome 7 has been demonstrated

101 The first patient had segmental uniparental disomy of chromosome 9, carrying 2 copies of

102 Notable findings in this sample set were uniparental disomy of chromosome arms 11p, 1q, 14q, and

103 This is the first description of uniparental disomy of human chromosome 1.

104 ese with phenotypes associated with paternal uniparental disomy of mouse chromosome 12.

105 n of multiple genetic alterations, including uniparental disomy of oncogenic Nras allele.

106 By single nucleotide polymorphism arrays, uniparental disomy on chromosome 5q, 8q, 11p, and 17p wa

107 Moreover, we identified either uniparental disomy or copy-number variants (CNVs) in 2 p

108 which can be due to gene deletions, maternal uniparental disomy or mutations disrupting the imprintin

109 This disease is associated with paternal uniparental disomy or paternal duplication of chromosome

110 consider unusual genetic mechanisms such as uniparental disomy or the possible presence of three ATP

111 deletions in 142 (12%) of 1,155 patients and uniparental disomy segments (UPD) in four (0.35%) of 1,1

112 ion was significantly lower in patients with uniparental disomy than in patients with biparental inhe

113 had two normal cathepsin K alleles, paternal uniparental disomy was suspected.

114 No instances of mosaicism or uniparental disomy were detected in the ensuing pregnanc

115 n revealed a causal focal lesion, indicating uniparental disomy with loss of heterozygosity.

116 th telomeres, establishing that the paternal uniparental disomy with partial isodisomy was caused by

117 somal anomalies (duplications, deletions and uniparental disomy) using SNP microarray data from over

118 34.3%) autosomal recessive (including 5 with uniparental disomy), 65 (12.3%) X-linked, and 1 (0.2%) m

119 ed by duplication of the retained homologue (uniparental disomy).

120 ted genes, since some patients show paternal uniparental disomy, and others show balanced germ-line c

121 uncation mutations, including an instance of uniparental disomy, and whole-gene deletion were identif

122 portion of the long arm of chromosome 6 and uniparental disomy, implicating overexpression of an imp

123 e has revealed a somatic recombination event-uniparental disomy, leading to a loss of heterozygosity

124 d chromosomal aberrations, including somatic uniparental disomy, may lead to more precise prognostic

125 myelomonocytic leukemia patients harbored 7q uniparental disomy, of which 41% had a homozygous EZH2 m

126 out known molecular defects (large deletion, uniparental disomy, or imprinting mutation).

127 Loss-of-function UBE3A mutations, uniparental disomy, or methylation imprint abnormalities

128 ome 15q11-q13, due to hemizygous deletion or uniparental disomy, results in the Prader-Willi syndrome

129 of trinucleotide expansions, imprinting and uniparental disomy, unusual characteristics of mitochond

130 In addition, copy number-neutral LOH, or uniparental disomy, was also prevalent on 1q (8%), 16q (

131 In 7 of 13 cases with uniparental disomy, we identified concurrent homozygous

132 bmicroscopic alterations, including acquired uniparental disomy, were detectable on chromosomes 1, 8,

133 opy number variation that is associated with uniparental disomy-like phenotypes.

134 5q11-q13 deletions or chromosome 15 paternal uniparental disomy.

135 ernally derived chromosome 15 or by maternal uniparental disomy.

136 onogenic disorders as well as 1 neonate with uniparental disomy.

137 lls from all 4 patients, which resulted from uniparental disomy.

138 r CBL mutations associated with 11q acquired uniparental disomy.

139 n of the LCK gene (c.1022T>C) resulting from uniparental disomy.

140 omozygous in the leukemia DNA as a result of uniparental disomy.

141 ions in 9 of 12 individuals with 7q acquired uniparental disomy.

142 regulated imprinting at chromosome 11p15 and uniparental disomy.

143 We term this process "reciprocal uniparental disomy."

144 ting process have biparental inheritance but uniparental DNA methylation and gene expression througho

145 Uniparental embryos derived from only the mother (gynoge

146 In this model, haploid or diploid uniparental embryos develop into males due to a maternal

147 However, these uniparental embryos develop to the blastocyst stage, all

148 We observed that uniparental embryos exhibited variable and decreased emb

149 -cell transcriptomes of human biparental and uniparental embryos systematically from the 1-cell to th

150 Diploid mammalian uniparental embryos with only maternally (oocyte-) or pa

151 We also establish that uniparental ES cells can differentiate into transplantab

152 identical to the DMRs recently identified in uniparental ESCs.

153 Uniparental expression of nBiX genes disappears soon aft

154 We transplanted uniparental fetal liver cells into lethally irradiated a

155 Mitochondrial DNA inheritance appears uniparental for maxicircle kinetoplast DNA (kDNA) but bi

156 We analyzed uniparental genetic markers and autosomal microsatellite

157 Previously published ancient DNA analyses of uniparental genetic markers have shown that the Guanches

158 The available data from uniparental genetic systems have already transformed our

159 Wide species crosses often result in uniparental genome elimination and visible failures in c

160 on, unfertilized eggs typically develop into uniparental haploid males and fertilized eggs into bipar

161 other insects in the order Hymenoptera, only uniparental haploid males that arise from unfertilized e

162 We generated 18 low-coverage genomes and 31 uniparental haplotypes to assess their genetic origins a

163 The ancient genomes, uniparental haplotypes, and high-altitude adaptive allel

164 (ES) cells with two oocyte-derived genomes (uniparental) have been proposed as a source of autologou

165 ing the maternal LAMB3 mutation and maternal uniparental heterodisomy of other regions of chromosome

166 The production of uniparental human embryos followed by transcriptome and

167 or cis-regulatory variation or known to show uniparental imprinting.

168 Doubly uniparental inheritance (DUI) describes a mode of mtDNA

169 Doubly uniparental inheritance (DUI) of mitochondrial DNA in ma

170 drial DNA (mtDNA) inheritance, termed doubly uniparental inheritance (DUI) where female mtDNA (F-type

171 chondrial DNA inheritance, designated doubly-uniparental inheritance (DUI), occurs in three bivalve s

172 mitochondrial DNA inheritance termed doubly uniparental inheritance (DUI).

173 ce, as plastid competitiveness can result in uniparental inheritance (through elimination of the "wea

174 in animals has remained enigmatic due to its uniparental inheritance and subsequent homoplasmic state

175 Vegetative segregation and some cases of uniparental inheritance are due to stochastic replicatio

176 and sperm; however, active programs enforce uniparental inheritance at two levels, eliminating pater

177 we reveal a distinct mechanism that achieves uniparental inheritance by segregation of parental mitoc

178 m segregation of mitochondrial genomes under uniparental inheritance can effectively combat the mutat

179 However, uniparental inheritance creates conditions for cytonucle

180 tionary novelty may be secondarily lost when uniparental inheritance evolves to ensure the integrity

181 Uniparental inheritance for this region causes imprintin

182 he mechanisms of intracellular selection and uniparental inheritance in mammals.

183 ng for reduced effective population size and uniparental inheritance in organelle genomes.

184 For neutral genes, uniparental inheritance is expected to reduce effective

185 and Ezy2, are candidate participants in the uniparental inheritance of chloroplast DNA.

186 Inert Y chromosomes, uniparental inheritance of cytoplasmic genes, mating str

187 to oxidative damage than male mitochondria, uniparental inheritance of female mitochondria may reduc

188 In the absence of recombination, uniparental inheritance of freely-segregating genomes mi

189 dent RNA-primed replication accounts for the uniparental inheritance of hypersuppressive petite mtDNA

190 ss of alleles, homologous recombination, and uniparental inheritance of kinetoplast maxicircle DNA.

191 type minus (mt-) parent, and, therefore, to uniparental inheritance of mating type plus (mt+) cpDNA.

192 ng the suppression of transposable elements, uniparental inheritance of mitochondria and plastids, an

193 arental mitochondria to the poles results in uniparental inheritance of mitochondria, wherein two of

194 tDNA, confirming the crucial role of MTI1 in uniparental inheritance of mitochondria.

195 Uniparental inheritance of mitochondrial DNA (mtDNA) is

196 Most eukaryotes show uniparental inheritance of mitochondrial DNA (mtDNA).

197 Doubly uniparental inheritance of mtDNA (DUI) is commonly obser

198 s, factors that may explain the advantage of uniparental inheritance of mtDNA.

199 en, Cryptococcus neoformans, where exclusive uniparental inheritance of nuclear genetic material was

200 ation to the species tree as a result of the uniparental inheritance of these genomic regions.

201 been defined by the production of mice with uniparental inheritance or duplication of homologous chr

202 Uniparental inheritance prevents encounters between dist

203 ever the genetic mechanism that governs this uniparental inheritance remains unclear.

204 propose a model for the regulation of doubly uniparental inheritance that is consistent with these ob

205 degradation: Mitochondria have predominantly uniparental inheritance, appear to be nonrecombining, an

206 ore the origins of vertical transmission and uniparental inheritance, before detailing the vast diver

207 ncialis and M. edulis does not affect doubly uniparental inheritance, indicating a difference in the

208 ear genes in showing vegetative segregation, uniparental inheritance, intracellular selection, and re

209 ct34 and ct59, where the phenotype displays uniparental inheritance, the mutations were localized to

210 To investigate the consequence of overriding uniparental inheritance, we generated mice containing an

211 f organelles derived from one gamete ensures uniparental inheritance, where the underlying mechanisms

212 nal mtDNA in females, act to regulate doubly uniparental inheritance.

213 mpromise the purifying selection benefits of uniparental inheritance.

214 xplored the mechanism underlying this biased uniparental inheritance.

215 mber variants, inversions, large insertions, uniparental isodisomies, and tandem repeat expansions),

216 analysis showed mosaic interstitial paternal uniparental isodisomy (UPD) for chromosome 11p15.1.

217 s converted to homozygosity as the result of uniparental isodisomy (UPD) in a patient with KS and a d

218 lysis demonstrated mosaic segmental paternal uniparental isodisomy (UPD) of 11pter-11p14 in the proba

219 In one patient, paternal uniparental isodisomy (UPD) of chromosome 1 resulted in

220 n acquired truncating cis RPA1 mutation or a uniparental isodisomy 17p with loss of mutant allele, co

221 emias with 50-Mb LOH segments, 4 had partial uniparental isodisomy and 4 had interstitial uniparental

222 e have identified and defined a chromosome 7 uniparental isodisomy and a 7p telomeric microdeletion i

223 is suggests that the cases with interstitial uniparental isodisomy arose in a leukemia-initiating cel

224 cases with Wilson's disease due to segmental uniparental isodisomy as well as three patients with thr

225 d to chromosome 1q by observing two cases of uniparental isodisomy of 1q-the inheritance of both copi

226 t hereditary osteodystrophy who has paternal uniparental isodisomy of chromosome 20q and lacks the ma

227 Group 1 had paternal uniparental isodisomy of chromosome 6 (11 cases, includi

228 We recently reported paternal uniparental isodisomy of chromosome 6 (UPD6) in two chil

229 This finding demonstrates that uniparental isodisomy of the X chromosome is an addition

230 easured homozygosity caused by autozygosity, uniparental isodisomy or hemizygosity play a major role

231 uniparental isodisomy and 4 had interstitial uniparental isodisomy.

232 ugh somatic loss of heterozygosity (LOH) via uniparental isodisomy.

233 exican descent as well as cases of recurrent uniparental isodisomy.

234 oid/triploid mosaicism, and several cases of uniparental isodisomy.

235 s ago, with the advent of agriculture, a few uniparental lineages became predominant; however, signif

236 Uniparental lineages indicate North African ancestry, bu

237 es, then languages should be channeled along uniparental lines.

238 tion genetic variation data on autosomal and uniparental loci (Y-chromosomal and mitochondrial DNA).

239 th uniparental and biparental females and in uniparental males including vitellogenin, associated wit

240 In this study, uniparental markers (mtDNA and Y chromosome) were used t

241 Uniparental markers show mixed and interleaved dog and w

242 gene for embryonic lethality associated with uniparental maternal inheritance of this region.

243 in generation of the attenuated state by (i) uniparental (maternal) inheritance of the trait, (ii) pr

244 me of these hybrids consisted of homogeneous uniparental maxicircles, but minicircles originated from

245 palmata (Cnidaria, Anthozoa), we found that uniparental, meiotic offspring harbored 50% of the 268 s

246 revealed that the patient had both maternal uniparental meroisodisomy of a 35-cM region on 1q contai

247 additional functions to mating-type, such as uniparental mitochondria inheritance, (3) accumulation i

248 merged as a conserved mechanism ensuring the uniparental mitochondrial inheritance in animals.

249 Mytilus edulis species complex have a doubly uniparental mode of mtDNA inheritance with separate mate

250 paternal-biasedly expressed genes (PEGs) in uniparental monkey embryos.

251 nscriptomes, DNA methylomes, and H3K27me3 in uniparental monkey embryos.

252 ing of imprinted alleles, we generated novel uniparental mouse embryonic fibroblasts exclusively cont

253 a; whenever it involves M. trossulus, doubly uniparental mtDNA inheritance is disrupted.

254 It has been argued that uniparental (often maternal) inheritance of cytoplasmic

255 somally normal and abnormal blastomeres with uniparental or biparental origins.

256 ganelle quality control mechanism drives the uniparental organelle inheritance without dimorphic game

257 provides an explanation for blastomeres with uniparental origins, and substantiates defective checkpo

258 e numerical chromosome imbalances as well as uniparental origins.

259 Uniparental parthenotes are considered an unwanted bypro

260 Mice with uniparental partial or complete disomies for any one of

261 alities, including large maternal deletions, uniparental paternal disomy (UPD).

262 IPD) are less affected than individuals with uniparental paternal disomy (UPD); of those with UBE3A p

263 males and AS subjects with a 15q deletion or uniparental paternal disomy 15.

264 netic females are crossed to infected males, uniparental progeny with maternally derived chromosomes

265 To study the relationship between uniparental rDNA (encoding 18S, 5.8S and 26S ribosomal R

266 in terms of an enrichment of a capacity for uniparental reproduction in colonizing situations, rathe

267 additional support for the positive role of uniparental reproduction in establishment following long

268 lly on finding mates, individuals capable of uniparental reproduction may have a colonization advanta

269 tive barriers observed (e.g., polyploidy and uniparental reproduction), however, may have been favore

270 ith loss of heterozygosity at some loci, and uniparental retention of maxicircle kinetoplast DNA.

271 Uniparental silencing of 35S rRNA genes (rDNA), known as

272 nterspecific animal and plant hybrids is the uniparental silencing of ribosomal RNA gene transcriptio

273 nces of genomic imprinting that in mammalian uniparental tissues causes unbalanced expression of impr

274 12 were differentially methylated regions in uniparental tissues of germline origin, i.e., hydatidifo

275 Uniparental transmission generates similar asymmetries f

276 e selection on host modifier genes that keep uniparental transmission in place.

277 we discuss some of the major consequences of uniparental transmission of mitochondria, including dele

278 eripheral tissues that are not imprinted for uniparental Ube3a expression.

279 In contrast, uniparental vertical transmission acts as a sieve, preve