ライフサイエンスコーパス: germ line

1 itiate transposon silencing in the offspring germ line.

2 ces have not diverged significantly from the germ line.

3 e cells nonautonomously promote death of the germ line.

4 ented view into the landscape of DNMs in the germ line.

5 this system to be active strictly within the germ line.

6 nctions that it could serve in the mammalian germ line.

7 introduce Xist transgenes (Tg) into the male germ line.

8 by controlling sex identity in both soma and germ line.

9 t region promotes its imprinting in the male germ line.

10 s lost following passage through a wild type germ line.

11 e or defective progeny if passed through the germ line.

12 ted and were similarly inherited through the germ line.

13 ly passed down or suppressed in the maternal germ line.

14 lular differentiation and maintenance of the germ line.

15 , specifically in the lineage leading to the germ line.

16 e movement of mobile genetic elements in the germ line.

17 eplication of mobile genetic elements in the germ line.

18 sex chromosomes may be specific to the male germ line.

19 elements and prevent genotoxic stress in the germ line.

20 roviruses, whose proviruses have invaded the germ-line.

21 oidogenic) and 3rJL2 (amyloidogenic) lambda3 germ lines.

22 ormone on both the male and female ancestral germ lines.

23 tep complementarity-determining region (CDR) germ-lining.

24 In parental germ line, 3.8% of mutations were mosaic, resulting in 1

25 ese MAbs originated mostly from the IGHV1-69 germ line, a reasonable proportion derived from other ge

26 d hereditary thrombocytosis is acquired, and germ-line-activating mutations affect the thrombopoietin

27 factor AP2 (Tfap2), a regulator of mammalian germ lines, acts to commit adult stem cells, known as i-

28 maintained, Wolbachia must infect the female germ line after being acquired by horizontal transfer.

29 ng that progenitor K222 infected the primate germ line after the split between New and Old World monk

30 We found that germ-line Akt2-deficient mice develop similar atheroscle

31 rodent hosts, immunogenicity due to high non-germ-line amino acid content, v-domain destabilization,

32 key quality control mechanism in the female germ line and a critical determinant of fertility and ge

33 hers have identified DDX41 mutations both as germ line and acquired somatic mutations in families wit

34 gonadal disruption in roach down the female germ line and add to existing evidence that male roach w

35 are the most recent entrants into the human germ line and are transcriptionally active.

36 In addition to their essential role in the germ line and as stem cell-associated genes, Piwi-like p

37 comitant genetic inactivation of Bmp9 in the germ line and Bmp10 in the right atrium led to dramatic

38 n high-activity domains are expressed in the germ line and broadly across cell types, whereas low-act

39 lencing different types of transgenes in the germ line and for suppressing the expression of several

40 activity is important in the nervous system, germ line and intestine.

41 ecause these mutations are also found in the germ line and lead to Li-Fraumeni syndrome.

42 Patients underwent searches for germ line and somatic mutations using next-generation se

43 (HERVs) are viruses that have colonized the germ line and spread through vertical passage.

44 data reveal intricate crosstalk between the germ line and the epigenome of primary tumors, which may

45 Interactions between the germ line and the soma help optimize reproductive succes

46 ion of DNA methylation dynamics in mammalian germ lines and early embryos with a focus on both mice a

47 derstanding of DNA methylation regulation in germ lines and early stage embryos.

48 Larvae and adults display smaller germ lines and reduced brood size consistent with a role

49 Epigenetic modification may also affect the germ-line and in certain contexts can be inherited to of

50 eption can epigenetically reprogram father's germ-line and modulate their daughters' birth weight and

51 Studies on the interplay between germ-line and somatic events have elucidated genetic pro

52 Recent studies revealed that germ-line and somatic RIT1 mutations can cause Noonan sy

53 pment in the early embryo and the developing germ line, and artificially in various in vitro reprogra

54 genotoxic stress affecting the soma and the germ line, and tested how fast the soma recovered follow

55 med K222, which is a virus that infected the germ line approximately 25 million years ago.

56 Here we show that the nervous system and germ line are key MSPd secretion tissues.

57 reported that all active TEs in the chicken germ line are targeted by piRNAs, and as TEs lose their

58 art of the DNA of their host by entering the germ line as endogenous retroviruses (ERVs), where they

59 ty results in stem cell tumors in the female germ line as well as female-to-male somatic transformati

60 table tumors that can arise in patients with germ line as well as somatic mutations in neurofibromato

61 eutralizing antibodies or bind particular Ig germ-line B-cell receptors.

62 entify highly effective guide RNAs; focusing germ line-based experiments only on this cohort resulted

63 s) that was incorporated into the guinea pig germ line between approximately 22 and 35 million years

64 mbers are unique and diagnostic of childhood germ-line bMMRD (P < 10(-13)).

65 interacting RNAs (piRNAs) protect the animal germ line by silencing transposons.

66 PIWI-interacting RNAs (piRNAs) protect the germ line by targeting transposable elements (TEs) throu

67 for higher recombination rates in the female germ line by the elimination of aneuploid embryos; and r

68 logous recombination (HR) DNA repair and are germ-line cancer pre-disposition genes that result in a

69 ble analyses of the role of Cdk5 in GVHD, as germ line Cdk5 gene deletion is embryonically lethal.

70 nd provided a heat map for the essential non-germ-line CDR residue content of each antibody.

71 e MAGE gene family that is expressed in male germ line cells and placenta under normal physiological

72 ERVs) on several occasions, integrating into germ line cells to become part of the host genome, and s

73 line, rcd4 mutants are fertile and have male germ line centrioles of normal length.

74 Additionally, HHV-6B can integrate into germ line chromosomes, resulting in individuals with vir

75 ed by an extracellular signalling niche, and germ line commitment occurs after gastrulation.

76 hat suppress transcription and mediate early germ line commitment, which occurs before the somatic ce

77 generational RNAi that requires a nuclear or germ line component that is lacking in almost all RNA vi

78 Some familial pre-disposition suggests a germ-line contribution to CMN syndrome, as does variabil

79 orative and reciprocal mutants and wild type germ line control protein.

80 sidues in these patches to their hydrophilic germ line counterparts increased solubility.

81 residues in this patch to their hydrophilic germ line counterparts resulted in an approximately 10-f

82 phenotypic spectra observed in families with germ line DDX41 mutations.

83 Its germ line deletion is embryonic lethal with abnormal car

84 is an evolutionarily conserved protein whose germ line deletion is embryonic lethal.

85 Similar effects are obtained by germ line deletion of major NAD-consuming enzymes, sugge

86 Germ line deletion of the homologous enhancer in mice in

87 Germ-line deletion of Kif17 in mouse did not affect phot

88 Germ-line deletion of Loxl2 promotes lethality in half o

89 While germ-line deletion of Thap1 is embryonic lethal, mice la

90 Furthermore, there exists a common germ-line deletion polymorphism (A3B(del)), which has be

91 of 6-10 cells, traversing a network of large germ line-derived nurse cells within the ovary.

92 cific AHA-variable regions were mutated from germ line-derived sequences and displayed a high sequenc

93 alities correlate with cancer progression in germ line-derived tumors.

94 ), is essential for the death and removal of germ-line-derived nurse cells during late oogenesis.

95 mtDNA mutations are suppressed in the female germ line; despite this, mtDNA heteroplasmy is remarkabl

96 ibraries in which only the parental or human germ-line destination residue was encoded at each positi

97 Embryos of many animal models express germ line determinants that suppress transcription and m

98 ing germ plasm-that is, maternally specified germ-line determinants (inheritance).

99 shi with the noncanonical poly(A) polymerase germ line development defective-2 (GLD2) and map the ass

100 The Caenorhabditis elegans germ-line development defective (GLD)-2-GLD-3 complex up

101 The germ line did show signs of postirradiation recovery in

102 influence the epigenetic information of the germ line, disproportionately affecting genes with criti

103 ) can be familial; however, thus far no rare germ line disruptive alleles for CLL have been identifie

104 We performed whole exome sequencing on germ line DNA obtained from 4 family members in which co

105 We performed next-generation sequencing on germ-line DNA from 27 NS patients lacking a mutation in

106 ccordingly, we performed exome sequencing of germ-line DNA from patients with CMN to reveal rare or u

107 successfully reproduces key features of the germ line during development and adulthood, including a

108 Clonal animals do not sequester a germ line during embryogenesis.

109 genome is retrovirus sequence, fixed in the germ line during past infection.

110 The consequence of germ-line dysregulation leads to phenotypic alterations

111 Some studies suggest that the germ line elements of the TCR engage the MHC prior to pe

112 ction of UBIAD1 in mice; however, homozygous germ-line elimination of the Ubiad1 gene caused embryoni

113 rprisingly, dramatically affected by the non germ line encoded portions of CDR3 of the T cell recepto

114 termining region (CDR) loops that are either germ line-encoded (CDR1 and CDR2) or somatically rearran

115 K cell activity is controlled by an array of germ line-encoded activating and inhibitory receptors, a

116 ion, immunodominant peptide recognition, and germ line-encoded MHC interaction.

117 ble (V) regions of antigen receptors include germ line-encoded motifs unaltered by somatic recombinat

118 cells that respond to CMV infection and use germ line-encoded NK cell receptors (NKR) to distinguish

119 This "innate immune response" is mediated by germ line-encoded pattern recognition receptors that tri

120 stressed and infected cells through multiple germ line-encoded receptor-ligand interactions.

121 onclonal innate immune responses mediated by germ line-encoded receptors, such as Toll-like receptors

122 often are involved in interactions with the germ-line-encoded portions of TCRs.

123 comprehensively define the Drosophila female germ line epigenome throughout oogenesis and show that t

124 We combined a germ line Erk1 mutation with Cre-loxP Erk2 inactivation

125 the MutSbeta complex, is required for 98% of germ line expansions and all somatic expansions in this

126 Moreover, in ALPS patients with a germ line FAS mutation and somatic loss of heterozygosit

127 its paralog, CKS1, must be excluded from the germ line for proper embryonic development.

128 Tapasin loss is caused by a germ-line frameshift mutation in exon 3 (TAPBP(684delA))

129 Critically, this was mainly achieved on germ-line frameworks by simultaneously subtracting up to

130 Segregation of the germ line from the soma is an essential event for transm

131 o-occurrence of somatic ASXL1 mutations with germ line GATA2 mutations, and recurrent mutations in ot

132 Germ-line GATA2 gene mutations, leading to haploinsuffic

133 nsgenic males exhibiting a high frequency of germ-line gene conversion consistent with homology-direc

134 pts (>1 x 10(12)) as a result of hundreds of germ-line gene segments, random nucleotide incorporation

135 Germ-line gene therapy could halt this increase, but at

136 knockdown of individual P-granule and other germ-line genes in daf-2 young adults modestly reduced t

137 abditis elegans suggested that expression of germ-line genes in the somatic cells of long-lived daf-2

138 ested whether other mutants known to express germ-line genes in their somatic cells are long-lived.

139 ts that robustly express a broad spectrum of germ-line genes in their somatic cells are not long-live

140 erted, in step-wise fashion, into incomplete germ-line genes to generate the mature forms of antigen

141 encing and comparing the transcript to known germ-line genes.

142 s, copy number alternations, methylation and germ-line genetic variation.

143 re is significantly shaped by the underlying germ-line genome, but that stochastic or individual-spec

144 CH1/FBXW7 (N/F) mutations and RAS/PTEN (R/P) germ line (GL) were classified as oncogenetic low risk (

145 We find that domains are regulated by the germ-line H3K36 methyltransferase MES-4 and that border

146 ing human mitochondrial genes into the mouse germ line has never been described, to our knowledge, an

147 tnatal development in the cerebral cortex of germ-line heterozygous Pten mutant mice (Pten(+/-)), whi

148 te the antiquity of some, and possibly most, germ line HHV-6 integrations, the majority of ciHHV-6B (

149 We tested "the expensive germ line" hypothesis by generating germline-free zebraf

150 nd mutations during affinity maturation, the germ-line IG loci are also diverse across human populati

151 l IgE production was quantified with epsilon germ line (IGHE) transcripts and correlated with serum I

152 rimordial germ cells (PGCs) give rise to the germ line in animals.

153 However, not all animals segregate their germ line in this manner.

154 In this study we explored whether germ line inactivation of the Alox15 gene might rescue m

155 n of wild-type adipose tissue and homozygous germ line inactivation of the p85alpha-encoding gene Pik

156 ynamic, 3D in silico model of the C. elegans germ line, incorporating both the mechanical interaction

157 o the accumulation of gamma-H2Av foci in the germ line, indicating increased DNA damage in the ovary.

158 and CKS2, but only CKS2 is expressed in the germ line, indicating that it is solely responsible for

159 m count, and appropriate organization of the germ line into stably maintained zones.

160 iments with purified recombinant iPLA2gamma, germ-line iPLA2gamma(-/-) mice, cardiac myocyte-specific

161 Our results thus suggest that the female germ line is able to recognize and select against delete

162 The Caenorhabditis elegans germ line is an outstanding model system in which to stu

163 s, a simple body plan, and the fact that the germ line is not segregated from the soma are characteri

164 lambda3r germ line is significantly implicated in this disease.

165 ial germ cells (PGCs), the stem cells of the germ line, is required to transmit genetic information f

166 cases plus V617F carriers, we replicated the germ line JAK2 46/1 haplotype (rs59384377: odds ratio [O

167 Recently, germ line JAK2 mutations were associated with polyclonal

168 Germ-line Kcne4 deletion eliminated the sex-specific Kv

169 he proportion of eggs that hatched from trpm germ-line knockout mutant females, although eggs were ab

170 Germ-line knockouts of CCR2 or treatment with an anti-CC

171 We generated Ube2w germ line KO mice that proved to be susceptible to early

172 is also extremely potent, despite retaining germ line-like conformational flexibility.

173 events before the segregation of somatic and germ-line lineages early in development.

174 arges in TCR binding loops, particularly the germ-line loops encoded by the TCR Valpha and Vbeta gene

175 Conversely, germ-line loss of E2f1 or E2f3b, but not E2f3a, protecte

176 Heterozygous carriers of germ-line loss-of-function variants in the DNA repair ge

177 n in individuals expressing Cas9 only in the germ line, males and females derived from transgenic fem

178 cleus (MAC) and the transcriptionally silent germ-line micronucleus (MIC).

179 Germ line missense mutations, which give rise to constit

180 ere able to assign a causal or likely causal germ line mutation in 86 patients (48.0%), involving a t

181 pacity for fibrin polymer formation due to a germ-line mutation in the Aalpha chain thrombin cleavage

182 tic mutations contribute little to the human germ-line mutation rate.

183 ns in 11.1% (7.8% clonal, 1.3% subclonal, 2% germ line mutations considered pathogenic), SF3B1 mutati

184 Germ line mutations in ETV6 are responsible for a famili

185 Conversely, germ line mutations in GATA2 are associated with GATA2 d

186 or ETAA1 in this process by surveying random germ line mutations in mice using exome sequencing and b

187 Germ line mutations in the PTPN11 gene responsible for c

188 Li-Fraumeni syndrome (LFS) patients harbor germ line mutations in the TP53 gene and are at increase

189 Germ line mutations of the gene encoding the tricarboxyl

190 Germ-line mutations in components of the Ras/MAPK pathwa

191 edical genetics syndromes that are caused by germ-line mutations in genes that encode components or r

192 We establish that germ-line mutations in Kcp in Xenopus lead to valve defe

193 sequencing of 539 CLL samples revealed five germ-line mutations in six samples (1%) in miR-3676.

194 Heterozygous germ-line mutations in the bone morphogenetic protein ty

195 re currently offered to women with high-risk germ-line mutations, the in vivo HSPC gene therapy appro

196 NOD2 mutations, apart from 1 patient with a germ line NLRP3 p.V198M substitution.

197 commitment across germ line-sequestering and germ line-nonsequestering animals.

198 Genetic analysis revealed neither germ line nor somatic NLRP3, TNFRSF1A, NLRC4, or NOD2 mu

199 Germ line Notch2(COIN) inversion phenocopied the Notch2H

200 Here, we show that knockdown of Hop in the germ line nurse cells (GLKD) of Drosophila ovaries leads

201 the remnants of retroviral infections in the germ line, occupy ~8% and ~10% of the human and mouse ge

202 icate that the P-element is processed in the germ line of D. simulans, and genomic data show an enric

203 ct the dystrophin gene (Dmd) mutation in the germ line of mdx mice, a model for DMD, and then monitor

204 al Cre-mediated recombinations in the female germ line of mice.

205 piRNAs silence transposons in the germ line of most animals, whereas somatic piRNA functio

206 Both mutations were detected in the germ line of rare polycythemia vera, as well as certain

207 The germ line of the newly developing bodies is derived from

208 ically transmitted as proviruses through the germ line of wasps but also function as gene delivery ve

209 asa is a conserved RNA-helicase found in the germ lines of all metazoans tested.

210 he effect of the presence and absence of the germ line on somatic repair under benign and stressful c

211 ultiple adenomas have other unidentified APC germ line or somatic mutations.

212 py number variants or DNA inversions, either germ-line or in mosaicism events, are being studies.

213 Whether germ-line or somatic alterations in these genes or other

214 sly described (as a result of their separate germ line origin), which are nevertheless complementary

215 The two antibodies have separate germ line origins that generate two markedly different c

216 gin, a result of ancestral infections of the germ line over millions of years of evolution.

217 Germ-line Parkin knockout mice have normal hearts, but P

218 Germ-line pathogenic variants in components of the H2AUb

219 In addition, hypomorphic germ-line PIGA mutations that do not cause PNH have been

220 pecific antibodies produced through distinct germ line precursors.

221 that gene expression remains inactive in the germ-line precursors during adverse conditions.

222 As individuals with germ line predisposition to hematologic malignancies are

223 ation as well as disease progression such as germ line predisposition, inflammation, and aging.

224 hogenesis is explained by misexpression of a germ line, primate-specific transcription factor DUX4-fl

225 of multiple P-granule proteins or the entire germ-line program from daf-2 worms did not reduce their

226 We investigated the contribution of a germ-line program to daf-2's long lifespan and also test

227 sis-specific roles for proteins required for germ line proliferation.

228 The germ line provides the cellular link between generations

229 treatments in Noonan syndrome patients with germ-line Ptpn11 GOF mutations could increase the risk o

230 r Ana3 for centriole development in the male germ line, rcd4 mutants are fertile and have male germ l

231 izes insulin/IGF-1 signalling outputs in the germ line, regardless of their systemic levels, to block

232 c profile and expressed several post-meiotic germ line related markers, showed meiotic progression, e

233 demonstrating that ectopic expression of the germ line-related genes PRDM1, PRDM14, LIN28A, DAZL, VAS

234 -coding RNAs are preferentially expressed in germ-line-related tissues (pods and seeds), suggesting t

235 s that these plasma cells are derived from a germ line repertoire of B cells with a diverse represent

236 taneously subtracting up to 19 redundant non-germ-line residues in the CDRs.

237 omatin regulator Kdm6a (Utx) in the paternal germ line results in elevated tumor incidence in genetic

238 wild mice and compared them with endogenous germ line retroviruses (ERVs) acquired early in house mo

239 me transcript profiling of animals lacking a germ line revealed that germ-line transcripts are not up

240 Two carriers also harbored a rare, in trans germ line SAMD9L missense loss-of-function variant, pote

241 We postulate that early germ line segregation liberates genetic regulatory netwo

242 This process significantly lowered non-germ-line sequence content, minimized immunogenicity ris

243 s a regulator of germ cell commitment across germ line-sequestering and germ line-nonsequestering ani

244 0 mum) and stain positive for Vasa, an early germ line-specific protein.

245 teracting RNAs (piRNAs) are 26-30-nucleotide germ line-specific small non-coding RNAs that have evolu

246 ous isoform in all tissues (LIG3alpha) and a germ line-specific splicing isoform (LIG3beta) that diff

247 ests, germ-line-specific RNAi knockdown, and germ-line-specific CRISPR/Cas9 knockout to identify the

248 acts by extending the short poly(A) tail of germ-line-specific mRNAs, switching them from a dormant

249 rate its utility, we study the activity of a germ-line-specific promoter when located on the Y chromo

250 Here, we combined inhibitor tests, germ-line-specific RNAi knockdown, and germ-line-specifi

251 Drosophila hnRNP A1, Hrp38, is required for germ line stem cell maintenance and oocyte localization.

252 e formation via myosin IIA silencing limited germ line stem cell signaling and abrogated oogenesis.

253 show that the lack of regeneration in aging germ line stem cells after IR can be rescued by loss of

254 ce where an overabundance of Oct3/4 positive germ line stem cells displays randomized orientation of

255 was also detected in the plasma membrane of germ line stem cells in ovaries during the early stages

256 s normal sleep in Drosophila, have increased germ-line stem cell (GSC) division rates, and this effec

257 family member Lilipod (Lili) is required for germ-line stem cell (GSC) self-renewal in the Drosophila

258 ng with diploid spermatogonia, which include germ-line stem cells, and ending with haploid spermatozo

259 tructural evolution of the p53 pathway, from germ-line surveillance in simple multicellular organisms

260 Current testing guidelines for germ line susceptibility genes in patients with breast c

261 diated by epigenetic changes in the parental germ line that do not involve transmission of genetic va

262 When targeted to the germ line, the same cascade progresses across animal gen

263 rimordial germ cells (PGCs) give rise to the germ lines, the cell lineages that produce sperm and egg

264 epress transposon expression in the metazoan germ line, thereby protecting the genome.

265 icroscopy) superresolution imaging of intact germ-line tissue.

266 lar water potential as they deliver the male germ line to female gametes, and it has been proposed th

267 ial features of irreversible conversion from germ line to soma, reproductive division of labor, and c

268 nd lifespan, a possible strategy is to drive germ-line traits in somatic cells, to try to confer some

269 chromatin hub that drives Valpha and Jalpha germ-line transcription and primary rearrangements in th

270 nhancer (Ealpha) is essential for Tcra locus germ-line transcription and primary Valpha-to-Jalpha rec

271 al role in early B-cell receptor expression, germ-line transcription preceding class switch recombina

272 r Stat-mediated regulation of sterile gamma1 germ-line transcripts and CSR to IgG1.

273 of animals lacking a germ line revealed that germ-line transcripts are not up-regulated in the soma o

274 te CSR to IgG1 with low expression of gamma1 germ-line transcripts, resulting in impaired IgG1 produc

275 brid male sterility was assessed by means of germ-line transformation, with constructs containing com

276 nce the first stage of creating PGC-mediated germ-line transgenics of a vocal learning species.

277 c perturbation in organisms less amenable to germ line transmission based approaches.

278 plished, it is with a very low efficiency of germ-line transmission and far from the efficiency with

279 arget design, embryo injection and hatching, germ-line transmission and for minimizing off-target eff

280 To improve germ-line transmission in the zebra finch, we identified

281 uman herpesvirus-6 (iciHHV-6) results in the germ-line transmission of the HHV-6 genome.

282 verified by PCR analyses, Southern blot, and germ-line transmission.

283 Finally, we show that targeting Cas9 to the germ line using a Cas9-nanos 3' UTR led to the generatio

284 itary optic neuropathy (LHON) into the mouse germ line using fluorescence imaging for tissue-specific

285 ytes undergo V(D)J recombination to assemble germ-line V, D, and J gene segments into exons that enco

286 tion to MDS/AML, and identified a pathogenic germ line variant in 5 families (29%).

287 These data indicate that the same germ line variants endow individuals with a predispositi

288 novo AML, we identified rare, nonsynonymous germ line variants in 4 genes, each segregating with MDS

289 In addition, we identified germ line variants in genes encoding regulators of the B

290 re important for the activity of hMPG as the germ line variants R120C and R141Q had reduced enzymatic

291 Among the shared germ line variants, LAPTM5(c403t) and HCLS1(g496a) were

292 e-phenotype correlations between specific IG germ-line variants and the quality of Ab responses durin

293 We identified and replicated common and rare germ-line variants at FLT3 (a gene often somatically mut

294 including a combination of somatic and rare germ-line variants.

295 roach that enables us to model the effect of germ-line variation on tissue-specific gene expression i

296 Mice with reduced VGF levels in the germ line (Vgf+/-) or in dHc (AAV-Cre-injected floxed mi

297 ow expression), Cys at position 34 of the 3r germ line was replaced by Tyr reaching a good expression

298 ly or are vertically transmitted through the germ line, we investigated in detail the extent to which

299 ryo represent a lineage that converts to the germ line when the primordial germ cells are deleted.

300 stablishment at hIC1 is impaired in the male germ line, which is associated with an abnormal composit