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

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

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

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

9 esistant spontaneous mutants in progeny from uniparental control infections.

10 Although uniparental diploid male progeny of virgin triploid fema

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

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

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

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

15 Using mice carrying uniparental disomies or duplications, microarray screeni

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

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

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

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

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

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

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

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

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

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

26 Mice with uniparental disomy (UPD) for Chr.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

59 Uniparental disomy and abnormal DNA methylation were rul

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

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

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

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

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

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

66 Uniparental disomy describes the inheritance of a homolo

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

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

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

70 Uniparental disomy for certain segments of specific chro

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

106 34.3%) autosomal recessive (including 5 with uniparental disomy), 65 (12.3%) X-linked, and 1 (0.2%) m

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

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

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

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

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

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

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

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

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

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

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

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

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

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

121 5q11-q13 deletions or chromosome 15 paternal uniparental disomy.

122 ernally derived chromosome 15 or by maternal uniparental disomy.

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

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

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

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

127 regulated imprinting at chromosome 11p15 and uniparental disomy.

128 We term this process "reciprocal uniparental disomy."

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

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

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

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

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

134 identical to the DMRs recently identified in uniparental ESCs.

135 We transplanted uniparental fetal liver cells into lethally irradiated a

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

152 Uniparental inheritance for this region causes imprintin

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

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

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

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

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

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

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

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

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

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

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

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

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

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

167 Uniparental inheritance prevents encounters between dist

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

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

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

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

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

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

174 mpromise the purifying selection benefits of uniparental inheritance.

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

176 xplored the mechanism underlying this biased uniparental inheritance.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

191 uniparental isodisomy and 4 had interstitial uniparental isodisomy.

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

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

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

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

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

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

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

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

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

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

202 e numerical chromosome imbalances as well as uniparental origins.

203 Uniparental parthenotes are considered an unwanted bypro

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

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

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

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

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

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

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

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

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

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

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

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

216 12 were differentially methylated regions in uniparental tissues of germline origin, i.e., hydatidifo

217 Uniparental transmission generates similar asymmetries f

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

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