ライフサイエンスコーパス: germ line

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

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

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

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

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

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

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

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

9 ted and were similarly inherited through the germ line.

10 eplication of mobile genetic elements in the germ line.

11 ing and requires complex manipulation of the germ line.

12 ally reactivated during reprogramming of the germ line.

13 criptional memory during passage through the germ line.

14 stone information during passage through the germ line.

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

16 elements and prevent genotoxic stress in the germ line.

17 itiate transposon silencing in the offspring germ line.

18 lular differentiation and maintenance of the germ line.

19 ces have not diverged significantly from the germ line.

20 e cells nonautonomously promote death of the germ line.

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

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

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

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

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

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

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

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 causative role of UV radiation, predisposing germ-line alterations, mutational processes, and pattern

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

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

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

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

39 e communication between males and the female germ line and soma to regulate reproduction and longevit

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

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

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

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

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

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

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

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

48 eal daily rhythms in division frequencies of germ-line and somatic stem cells that act cooperatively

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

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

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

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

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

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

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

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

57 ory mechanisms occurring in constitutive and germ-line-based myostatin mutants, we generated a mouse

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

59 ambiae, some strains of Wolbachia invade the germ line, but are poorly transmitted to the next genera

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

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

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

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

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

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

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

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

68 manno-oct-2-ulopyranosonic acid), displays a germ-line-coded paratope that differs significantly from

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

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

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

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

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

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

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

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

77 Its germ line deletion is embryonic lethal with abnormal car

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

79 nsig1 using Villin-Cre in combination with a germ line deletion of Insig2.

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

81 Germ line deletion of the homologous enhancer in mice in

82 Embryonic germ-line deletion of Bcl11a revealed an absolute cellul

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

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

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

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

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

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

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

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

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

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

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

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

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

96 Irreversible restriction of the germ line did not occur until the mid-tailbud stage, day

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

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

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

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

101 r tumor genomes, but surprisingly similar to germ-line DNA, indicating that a substantial fraction of

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

103 ted by scnRNAs, small RNAs produced from the germ line during meiosis that first scan the maternal ma

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

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

106 (Emv30) in the NOD genome, multiple de novo germ-line eERV integrations were observed in mice from e

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

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

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

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

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

112 c mechanism of microbial recognition through germ line-encoded pattern recognition receptors (PRRs).

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

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

115 ntigen-presenting cells (APCs) by binding to germ-line-encoded receptors.

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

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

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

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

120 ng all family members: p63 and p53 safeguard germ line fidelity, whereas TAp73 ensures fertility by e

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

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

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

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

125 Germ-line GATA2 gene mutations, leading to haploinsuffic

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

127 use Ig heavy and kappa light variable region germ-line gene segments with their human counterparts wh

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

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

130 have been no functional studies of conserved germ line genes in species of the most basally branching

131 Our studies reveal that VLRA and VLRC germ-line genes are situated in close proximity to each

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

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

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

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

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

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

138 Germ-line genetic control of gene expression occurs via

139 ndent and differs between individuals due to germ-line genetic variation.

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

141 pparent anticipation pattern may result from germ-line genomic instability in TP53 mutation carriers,

142 short reads to identify somatic variants and germ-line genotypes.

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

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

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

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

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

148 somatic hypermutation, whereas 18% had >98% germ-line identity, including 5 with entirely germ-line

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

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

151 One idea posits cheats as a primitive germ line in a life cycle that facilitates collective re

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

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

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

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

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

163 lambda3r germ line is significantly implicated in this disease.

164 However, the role of p73 in the male germ line is unknown.

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

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

171 les across 2 y, we found that the use of the germ-line library of V and J segments is conserved betwe

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

177 Extensive germ line methylation of some genes possibly explains th

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

179 Germ line missense mutations, which give rise to constit

180 ence-Based Network for the Interpretation of Germ-Line Mutant Alleles consortium combines RT-PCR, exo

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

182 t (3.4%) was found to have an additional APC germ line mutation.

183 Approximately half of DBA patients have a germ-line mutation in a ribosomal protein gene.

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

185 dolescent, and adult cancers associated with germ-line mutation in the TP53 tumor suppressor gene.

186 mal dominant cancer-prone disorder caused by germ-line mutation of the phosphatase and tensin homolog

187 g for heteroplasmies, we estimated the mtDNA germ-line mutation rate at 1.3 x 10(-8) (interquartile r

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

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

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

191 part of the MEN1 syndrome that is caused by germ line mutations in MEN1.

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

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

194 Tissue-specific tumor predisposition from germ line mutations in ubiquitously expressed genes such

195 Germ line mutations of the gene encoding the tricarboxyl

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

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

198 l DBA causative gene, RPS29, and showed that germ-line mutations in RPS29 can cause a defective eryth

199 Germ-line mutations in SAMHD1 have been described in pat

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

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

202 Heterozygous carriers of germ-line mutations in the BRCA2/FANCD1, PALB2/FANCN and

203 thrombocytosis presenting novel heterozygous germ-line mutations of JAK2.

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

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

206 Germ line Notch2(COIN) inversion phenocopied the Notch2H

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

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

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

210 but are identical to mutations found in the germ line of individuals with the congenital childhood d

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

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

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

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

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

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

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

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

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

220 control regions (ICRs) were classified into germ-line or somatic ICRs.

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

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

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

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

225 Germ-line pathogenic variants in components of the H2AUb

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

227 pecific antibodies produced through distinct germ line precursors.

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

229 As individuals with germ line predisposition to hematologic malignancies are

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

231 roles for poised chromatin in the mammalian germ line: prevention of DNA methylation, maintenance of

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

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

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

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

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

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

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

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

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

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

242 related S25-23 utilize a groove composed of germ-line residues to recognize the entire trisaccharide

243 uation reveals Cas9 lines with ubiquitous or germ-line-restricted patterns of activity.

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

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

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

247 escribe an AGS patient carrying a pathogenic germ-line SAMHD1 mutation who developed CLL at 24 years

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

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

250 erm-line identity, including 5 with entirely germ-line sequences.

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

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

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

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

255 n to protean roles in embryonic development, germ-line specification, and cellular differentiation, a

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

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

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

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

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

261 Glp), that function redundantly to maintain germ-line stem cells (GSCs) in the nematode Caenorhabdit

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

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

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

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

266 -term data linked to collection of tumor and germ-line tissue at the time of an initial procedure wil

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

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

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

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

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

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

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

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

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

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

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

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

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

280 This hitherto uncharacterized mode of germ-line transmission by a selfish genetic element sign

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

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

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

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

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

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

287 There were no other common germ line variants identified within the region of the A

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 e function of SirT1 specifically in the male germ line, we deleted this sirtuin in male germ cells an

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

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