ライフサイエンスコーパス: first exon

1 (after excluding for peaks that overlap with first exons).

2 f LAT has been mapped to a region within the first exon.

3 iant transcript that includes an alternative first exon.

4 ain a premature termination codon within the first exon.

5 ested at predicting the TSS and the complete first exon.

6 s located 11.5 kb downstream from the PDE1B1 first exon.

7 ds, four of which are in the short alternate first exon.

8 -Cre-mediated excision of SRF's promoter and first exon.

9 1 risk haplotypes to the promoter region and first exon.

10 ri- and dimethylated H3K4 within the Gsalpha first exon.

11 ed in a region that includes 94 bases of the first exon.

12 promoter adjacent to the previously defined first exon.

13 N-stimulated response element located in the first exon.

14 ed a splice variant of MTP with an alternate first exon.

15 specific expression are contained within the first exon.

16 e exons upstream of the previously described first exon.

17 ression and hypermethylation on CpG#5 of its first exon.

18 ed in promoter P1 upstream of the non-coding first exon.

19 CD arise from a distinct novel promoter and first exon.

20 protein by the acquisition of an alternative first exon.

21 rmined by the amino acids encoded within the first exon.

22 ine/threonine kinase activity encoded by its first exon.

23 modeling platforms that supply promoters and first exons.

24 erythroid genes show evidence of alternative first exons.

25 ripts, differing by the alternate use of the first exons.

26 mammalian genes containing multiple variable first exons.

27 rms have separate CpG islands spanning their first exons.

28 same gene by virtue of alternatively spliced first exons.

29 the locations of the experimentally verified first exons.

30 products by using alternative promoters and first exons.

31 MVPs were disproportionately located within first exons.

32 , as well as 3 changes in use of alternative first exons.

33 igate the function of genes with alternative first exons.

34 s lost the use of one of its two alternative first exons.

35 ids) and codified by two exons, although the first exon (1-72 amino acids) is sufficient for this pro

36 OXA is more conserved across taxa, while the first exon 10 in CvAOXB contains novel mutations surroun

37 omDb currently contains 36,407 promoters and first exons (19,170 from human, 15,953 from mouse and 12

38 ifferential splicing of 3 mutually exclusive first exons (1A, 1B, 1C) to the alternative 3' splice si

39 upstream, and region 2 is located within the first exon (1alpha) of the open reading frame of the RAS

40 Conversely, alternative first exons 1B and 1C always splice to the stronger firs

41 h increased transcription from the noncoding first exon 1C.

42 a variant GATA-1 transcript that includes a first exon (1E(B)), located approximately 3700 bp downst

43 roximately 42 bp upstream to another variant first exon, 1E(C).

44 r a GAGA factor in the promoter of alternate first exon 2 approaches conservative experiment-wise sig

45 bly lower levels than genes expressing small first exons (384 and 151 nt).

46 ases: 92.3% (24/26) of mutations were in the first exon, 46.2% (12/26) were recurrent mutations affec

47 Similar to RARbeta2, the first exon (59 bp) of RARbeta5 is RARbeta5 isoform speci

48 se identical fusion genes containing a large first exon (804 nt) are not expressed at appreciably low

49 rotein targeted to the chloroplast, that its first exon acts as a transit peptide, and that the small

50 st intron sequence located downstream of the first exon and 27 bp from the second exon, whereas the l

51 cription initiation, in that it targeted the first exon and a 696-bp sequence immediately downstream

52 ated as RNF217 in Genbank), which shares the first exon and a CpG island with STL but is transcribed

53 e is regenerated at the junction between the first exon and a small internal exon (mI); this splice s

54 (variable) and J (joining) sequences in its first exon and exists as a single-copy gene that is inva

55 ed two potential STAT-binding regions in the first exon and first intron of BCL6 that fell within reg

56 extending from the GGH promoter through the first exon and into intron 1 and showed that methylation

57 -3669 to -4 (relative to ATG), including the first exon and intron and part of the second exon.

58 kb alpha1T promoter fragment along with the first exon and intron express the transgene in a manner

59 The promoterless maize ubiquitin first exon and intron fragment can drive gusA expression

60 nstruct with the maize alcohol dehydrogenase first exon and intron had low activity, visible in histo

61 d region between +28 and +228 containing the first exon and intron resulted in high-level expression

62 uence and intragenic sequence containing the first exon and intron.

63 to a 242-kb segment comprising the promoter, first exon and most of the first intron of the Sorcs1 ge

64 tion of two transcription start-sites in the first exon and multiple (five) poly(A) signals in the te

65 heart tissue, BAH/humbug preferably use the first exon and often the fourth exon of junctin while pr

66 logous recombination was used to replace the first exon and promoter region of the IRBP gene with a p

67 In the present study we have identified its first exon and promoter region.

68 to identify the sequences of the non-coding first exon and promoter.

69 luded the complete CpG island containing the first exon and regulatory sequences from MBD1.

70 The first intron between the first exon and the exon with the translation start methi

71 containing the 5'-untranslated region of the first exon and the immediate upstream sequence that conf

72 Both genes share a common first exon and the remainder of the VAChT gene contains

73 s inactive, suggesting that sequences in the first exon and/or intron are required for detectable exp

74 xhibit shared features including alternative first exons and differential splice acceptors in exon 2.

75 and V3 transcripts have different noncoding first exons and distinct insertion/deletion patterns in

76 The MGST1 gene has two alternative first exons and is located in the 12p13.1-13.2 region.

77 pts of utrophin, Up71 and Up140, with unique first exons and promoters located in intron 62 and intro

78 The gene has two alternative first exons and two promoters.

79 5' flanking sequence, the 40-bp untranslated first exon, and 29 bp of intron 1 directed cat reporter

80 a rho- deletion genome in which the 5'-UTR, first exon, and first intron of COX1 are fused to the fo

81 ragment encompassing the 5'-flanking region, first exon, and first intron, was localized on human chr

82 exonic sequence is very low, except for the first exon, and no conserved open reading frame is prese

83 ng 2182 bp of the 5'-flanking sequences, the first exon, and the first intron activated expression in

84 5' untranslated regions, the presence of the first exon, and three missing codons at the start of the

85 3' terminal exons, (ii) genes with multiple first exons, and (iii) genes with very large introns, of

86 ANK3 has multiple alternative first exons, and a bipolar disorder-associated ANK3 vari

87 tandem-repeated sequences, exons other than first exons, and non-annotated single-copy sequences tha

88 The first exons appear more prone to the mutagenic effects,

89 quences within this promoter and alternative first exon are highly conserved between mouse and human

90 The G(S)alpha promoter and first exon are not methylated on either allele.

91 In all these cases, multiple variable first exons are each spliced to a common set of downstre

92 ings indicate that alternative promoters and first exons are more widespread in the human genome than

93 The majority of the candidate first exons are situated upstream of the coding exons, w

94 ing genes, with skipped exon and alternative first exon being the most frequently utilised.

95 tion of a transgene with an insertion in the first exon but does not affect induction of a similar tr

96 tional start site variants that use distinct first exons but share common subsequent exons.

97 The canonical first exon, by contrast, seems to be of negligible trans

98 lved in cell cycle activation encoded by E1A first exon can enhance v-src transformation of primary e

99 However, DNA methylation in the first exon can prevent CTCF binding in most cancers, but

100 The region between the functional first exons cannot direct transcription.

101 showed previously that promoter/alternative first exon choice is coupled to downstream splicing even

102 suggesting that RBPs play important roles in first exon choice.

103 EGFA148 isoforms, including three from novel first exons consistent with existing transcription start

104 The first exon contained only 5' untranslated sequence.

105 NA splicing occurs such that only one of the first exons (containing only untranslated mRNA) is incor

106 ng with its associated enhancer elements and first exon could be deleted without appreciable loss of

107 rolonged binding of the STAT1 complex to the first exon could impair PML transcription and inhibit th

108 ing the LMP1, LMP1-LMP2B promoter, and LMP2B first exon demonstrates the most dramatic nucleotide seq

109 inyltransferase that contain the alternative first exons differentially arginylate these proteins in

110 Second, for the first exons, DNA methylation level is negatively correla

111 al 18 amino acids of SNAP-23 (encoded in the first exon) dramatically inhibited binding of SNAP-23 to

112 Distinct first exons driven from separate promoters are spliced o

113 Distinct first exons, driven from separate promoters, splice onto

114 ive first exon far downstream of the primary first exon eliminates this conundrum.

115 l characteristics of protocadherins, a large first exon encodes the extracellular domain of each gene

116 The first exon encodes the translation initiation codon and

117 sequence was present in all exons, with the first exon encoding a mitochondrial signal peptide.

118 d in dendritic cells (DC-CIITA) has a unique first exon encoding an extended N-terminal region of CII

119 exon (Ex1B) located 10.5 kb upstream of the first exon (Ex1A) for canonical MTP (MTP-A); MTP-C conta

120 MTP-B has a unique first exon (Ex1B) located 10.5 kb upstream of the first

121 Sequence analysis of the noncoding first exon (exon 1) of the Syk gene demonstrated the pre

122 ithin this region lies a fourth promoter and first exon (exon 1A) that generates paternal-specific mR

123 n this region is an alternative promoter and first exon (exon 1A), generating transcripts that are no

124 racterized by the presence of an alternative first exon (exon 1b) that is spliced to exon 2 of the kn

125 l half of p14ARF, encoded by the alternative first exon (exon 1beta) contacts MDM2 through multiple d

126 differs from SK3 by utilizing an alternative first exon (exon 1C) in place of exon 1A used by SK3, bu

127 exon II or additionally contain a non-coding first exon (exon IA) spliced to exon II.

128 he nkx2.2 gene has two noncoding alternative first exons (exons 1a and 1b).

129 ginally noted is in fact a minor alternative first exon far downstream of the primary first exon elim

130 , encompassing the promoter, some enhancers, first exon, first intron and a small part of the second

131 ering exons, 280-500 bases upstream from the first exon for each gene, and 350 bases of the second in

132 mice with targeted deletion of exon 4A (the first exon for KS-WNK1) exhibited Na(+) retention, eleva

133 ermore, TEs act as alternative promoters and first exons for a subset of host genes, regulating their

134 ly, we present the analysis of the predicted first exons for all of the 24 chromosomes of the human g

135 r canonical MTP (MTP-A); MTP-C contains both first exons for MTP-A and MTP-B.

136 00 bp downstream to the previously described first exon found in hemopoietic cells (1E(A)) and approx

137 deletion of the oocyte-specific promoter and first exon from the Dnmt1 locus.

138 ndem-repeated sequences and exons other than first exons, from analysis.

139 r with short surrounding sequences from both first exons, functions bi-directionally as a core-promot

140 Although use of multiple alternative first exons generates unique noncoding 5'-ends for gamma

141 The identification of promoters and first exons has been one of the most difficult problems

142 t causes Huntington's disease (HD) is in the first exon (HDx-1) of huntingtin (Htt).

143 is isoform contains an alternatively spliced first exon (IB) that is distinct from the first exon (IE

144 The newly discovered first exon, identified by 5'-rapid amplification of cDNA

145 ed first exon (IB) that is distinct from the first exon (IE) incorporated in the major erythroid mRNA

146 tional start site of the hTERT gene into the first exon in 37 cell lines.

147 ain insertions of a selectable marker in the first exon in either orientation, and, in the third, the

148 methylation within the RIN1 promoter and the first exon in KPL-1 cells suggested that epigenetic modi

149 art, by increased binding of MDBP/RFX to the first exon in response to methylation in this region.

150 expansion of the polyglutamine repeat in the first exon in the androgen receptor gene.

151 bases to assess the frequency of alternative first exons in the genome.

152 A methylation progressively spreads from the first exon into the promoter area of this gene.

153 of the BCL-6 gene and a wild-type BCL-6 gene first exon-intron boundary region.

154 between the transcription start site and the first exon-intron junction.

155 y blocking transcriptional elongation at the first exon/intron border of the c-myc gene.

156 g transcription elongation at sites near the first exon/intron border.

157 indicate that a cis-element residing at the first exon/intron junction, encompassing an E-box motif,

158 r=-0.24, p=0.07), and DNAm in SST 5' UTR and first exon/intron negatively correlated with SST express

159 n unusual organization in which a non-coding first exon is alternatively spliced at the 5' end of two

160 The first exon is lengthy and untranslated, and the second e

161 tients: A nonsense mutation (p.W253X) in the first exon is likely to be a null allele; the second, a

162 rised of five introns and six exons, and the first exon is non-coding.

163 NESPAS/XLalphas promoter region and XLalphas first exon is not always concordant even though they are

164 esides in the second exon, and the noncoding first exon is separated from the second exon by a 14-kb

165 The first exon is separated from the second exon by a large

166 An amino acid response element within the first exon is shown to be required for the response to a

167 lation of CpG islands, CpG island shores and first exons is known to play a key role in the altered g

168 smaller protein (34 kDa) with an alternative first exon (isoform 4).

169 Except for an extra novel first exon, its 14-exon structure agrees well with that

170 This isoform, MTP-B, has a unique first exon located approximately 2.7 kilobases upstream

171 ue sequences originated from two alternative first exons, located in tandem and separated by approxim

172 Its first exon-more specifically the first 17 amino acids (H

173 ntially to intergenic diversity; alternative first exons, most of which map far upstream of the codin

174 ed the structural-functional properties of a first exon mutant of BCR lacking the oligomerization dom

175 f a Mutator (Mu) transposable element in the first exon of a gene homologous to the nematode gene, sm

176 n the mutant rat had a 17 bp deletion in the first exon of Adamts16, introducing a stop codon in the

177 his mutant revealed a T-DNA insertion at the first exon of an Arabidopsis thaliana gene encoding for

178 The T-DNA insertion appeared in the first exon of an open reading frame on chromosome 1 (F3M

179 the most 5' exon is transcribed through the first exon of another gene that is transcribed in the op

180 ber tandem repeat (VNTR) polymorphism in the first exon of AS3MT that is associated with the expressi

181 ulation, demonstrate that methylation in the first exon of COL1A2 at a regulatory factor for X box (R

182 ) yields a spliced message that includes the first exon of Fem1c and the beta Geo coding region.

183 ion protein (FGF14N-beta-gal) containing the first exon of FGF14 and beta-galactosidase.

184 There is a nonsense mutation within the first exon of FRO2 in frd1-1 and a missense mutation wit

185 on of the HASNT gene is complementary to the first exon of HAS2, which represents the 5'-untranslated

186 essor element 650 base pairs upstream of the first exon of HLA-B7.

187 perfect trinucleotide repeats encoded by the first exon of HOXA13 have been reported in hand-foot-gen

188 at a stretch of guanine-rich sequence in the first exon of hTERT and located within the CTCF-binding

189 The first exon of Htt encodes 17 amino acids followed by a p

190 The first exon of Huntingtin-a protein with multiple biologi

191 heterozygous mice in which Gfp replaced the first exon of Il4, a range of patterns of CpG methylatio

192 As this mutation occurs in the first exon of INK4a (exon 1alpha), it has no effect on t

193 These results indicate that the first exon of Nhs1 contains crucial information required

194 en a frameshifting mutation in the canonical first exon of NOD2 of marmoset and tamarin species and t

195 e (-291Tdel and -245T-->G), which map to the first exon of NR4A2 and affect one allele in 10 of 107 i

196 rting a floxed transcriptional stop into the first exon of p53, anticipating that this would allow ti

197 s have shown that the region surrounding the first exon of PEG3 contains a differentially methylated

198 ion of the ISRE, which is located within the first exon of PML, is critical to block PML induction by

199 s2294008, within an alternative untranslated first exon of PSCA.

200 The first exon of RARbeta5 does not contain any translation

201 t samples show widespread methylation in the first exon of RASSF1A.

202 The deletion ablated all but the first exon of SLC13A1, a sodium/sulfate symporter respon

203 kat-Tat101) but not in Jurkat expressing the first exon of Tat (Jurkat-Tat72), proving that the secon

204 p17 gag, the V3-V5 region of env, and/or the first exon of tat and phylogenetically analyzed.

205 The first exon of the BCR gene is a critical part of this fu

206 ) site between the transcriptional start and first exon of the blr1 gene, were necessary.

207 We determined the DNA sequences of the first exon of the CATSPER1 gene from 15 primates, which

208 In line 5580, T-DNA is inserted in the first exon of the CYCD3;2 gene; in homozygous 5580 plant

209 We inserted a lacZ reporter gene into the first exon of the Dlx3 gene by using homologous recombin

210 ith a LacZ reporter inserted in frame in the first exon of the Dlx3 gene.

211 semi-dominant 7-base-pair duplication in the first exon of the forkhead box I3 gene (FOXI3) shared by

212 different 5' UTRs that form the untranslated first exon of the gene (referred to as rHO-2, rHO-2-1 an

213 e highly methylated in the 5' region and the first exon of the gene that demonstrated features charac

214 of UVC on CHOP expression is located in the first exon of the gene, a 5'-untranslated region that is

215 wnstream of the Cyln2 gene and including the first exon of the Gtf2ird1 gene.

216 an expanded CAG trinucleotide repeat in the first exon of the HD gene, which results in a toxic poly

217 nvolves a YY1 binding element located in the first exon of the HLA-DRA gene.

218 inding of CCCTC-binding factor (CTCF) to the first exon of the hTERT gene can down-regulate its expre

219 into glutamine) trinucleotide repeats in the first exon of the human huntingtin (HTT) gene.

220 The first exon of the Huntingtin protein (Httex1) is one of

221 ingle molecule and nanometer scale using the first exon of the Huntingtin protein as a model system (

222 ing mice in which the eGfp gene replaced the first exon of the Il4 gene (G4 mice), we examined produc

223 s to identify a highly conserved alternative first exon of the LEU2 gene, giving rise to a novel tran

224 A mouse line in which part of the first exon of the Lrat gene has been flanked by loxP sit

225 fter an alternative splicing event where the first exon of the MAST2 gene spliced into an intronic SV

226 The first exon of the mouse CP49 gene was deleted by using t

227 ted, rs10993994, is 57 bp centromeric of the first exon of the MSMB gene, which encodes beta-microsem

228 y sequencing the genomic region flanking the first exon of the murine Rad51l2 gene.

229 by a short (GCG)(8-13) expansions within the first exon of the poly(A)-binding protein nuclear 1 gene

230 ontains a deletion spanning the promoter and first exon of the predicted coding region in every non-p

231 methylation patterns in a CpG island in the first exon of the promoter during lung tumour developmen

232 ha-syn and Htt fragment corresponding to the first exon of the protein (HttEx1).

233 the larger product, which contains both the first exon of the Rev protein and a translated portion o

234 neered pan-triadin-null mice by removing the first exon of the triadin gene.

235 dogene that integrated into the promoter and first exon of the tumour suppressor gene, MGA, abrogated

236 This demonstrated that mRNAs from the first exons of both genes were increased in erythroid an

237 asts, targeting the promoters, enhancers and first exons of genes that normally regulate B cell diffe

238 o clarify this, mRNA representing the unique first exons of INK4a and ARF were analyzed by semiquanti

239 5 DNase I HS sites are found in promoters or first exons of known genes, but nearly half of the most

240 The first exons of ORL1 and GAIP are separated by only 83 bp

241 icited demethylation in the promoters and/or first exons of the genes that were reactivated.

242 5'-untranslated regions normally make up the first exons of two ubiquitously expressed genes clustere

243 lting from alternative splicing of different first exons onto a common exon 2.

244 The identification that the first exon originally noted is in fact a minor alternati

245 N-SCAN's transcription-start site (TSS) and first exon predictions both computationally and experime

246 ot only identify quadruplex formation in the first exon promoted by CpG dinucleotide methylation as a

247 ut this gene (Solyc06g083450) is missing the first exon, raising the question of whether cultivated t

248 ntly higher at the proximal promoter and the first exon region of all three genes in memory CD8 T cel

249 s expected to be located in the promoter and first exon region of genes.

250 island, located within the promoter and the first exon regions of RASSF1A, in normal breast tissue c

251 Use of alternative first exons results in TIEG having 12 unique amino acids

252 ce binding, did not block the binding of Bcr first exon sequences to the Abl SH2 domain.

253 similarity between the entire c- and N- myc first exon sequences, many positions of pol II pausing,

254 ilar to that of the repressor binding to the first exon sequences.

255 lly supported full-length cDNA, promoter and first exon sequences; (2) homology information from Homo

256 TR3 and membrane-bound COMT mRNAs had common first exon sequences; however, transcription start sites

257 The single zDJ-1 first exon shows 5' end heterogeneity, reflecting multip

258 In the protein 4.1R gene, alternative first exons splice differentially to alternative 3' spli

259 TR3 forms that are generated by alternative first exon splicing and that differ in their N-terminal

260 he discovery that MGST1 utilizes alternative first exon splicing eliminates a problem with the first

261 In these genes, alternative first exon splicing resulted in the formation of predict

262 ved genetic mechanisms employing alternative first exon splicing.

263 principal cells differentially express ANK3 first exon subtypes.

264 Nearly all proteins affected alternative first exons, suggesting that RBPs play important roles i

265 ation initiation sites among the alternative first exons suggests that many proteins have alternative

266 losely associated with many of the candidate first exons, supporting their authenticity.

267 s effect on the expression and processing of first exons than has been reported for internal exons.

268 ol) contains a 10-nucleotide deletion in its first exon that causes it to code for a truncated protei

269 e splice form (Na(v)1.4bL) possesses a novel first exon that encodes a 51 aa N-terminal extension.

270 nt N-terminal sequence because of a separate first exon that is located 11.5 kb downstream from the P

271 ICCV 96029 revealed an 11-bp deletion in the first exon that was predicted to result in a premature s

272 distinct promoters and form two alternative first exons that are subsequently spliced to the common

273 le transcriptional promoters and alternative first exons that contribute another layer of complexity

274 t promoters that produce different noncoding first exons that splice into a common second exon.

275 veloped a BAC mouse model featuring a floxed first exon to permit cell-type-specific excision of huma

276 splice from a cryptic donor site within the first exon to the splice acceptor site of exon 2.

277 region immediately upstream of the dominant first exon transcriptionally responds to oxidative stres

278 +1 nt) initiate transcription of alternative first exons (U(1) and U(2)).

279 CAR1 mRNA variants, generated by alternative first exon usage (1B, 1B1, 1D, and 1E).

280 an the last of the 10 upstream exons and the first exon used from the original cluster of RGS3 exons.

281 by selective deletion of the Romk1-specific first exon using an ES cell Cre-LoxP strategy and examin

282 rnate promoter, and an untranslated upstream first exon was carried out, and no mutations were found

283 A 211 bp sequence 2 kb upstream of the first exon was found to be a major enhancer driving expr

284 To target the mouse gene, the first exon was replaced by a LacZ marker gene joined to

285 located at the 5'-end regions (including the first exons) was used to assess effects of epigenetic tr

286 s to predict CpG-related and non-CpG-related first exons, we showed by cross-validation that the prog

287 cko mice, in which the proximal promoter and first exon were deleted ubiquitously, were back-crossed

288 that intragenic E2F sites down-stream of the first exon were responsible for RB-mediated repression o

289 Two other potential first exons were determined to be nonfunctional.

290 the classical p21WAF1/CIP1 transcript in the first exon, which is located at approximately 2.8 kb ups

291 ues are encoded by different tissue-specific first exons, which are spliced onto a common site just u

292 well as two of the six validated alternative first exons, which encode distinct protein domains at th

293 is generated from a promoter upstream of the first exon, while the shorter transcript is derived from

294 were enriched in promoters, CpG islands, and first exons, while methylated domains comprised interspe

295 ERGalt uses a non-canonical first exon whose transcription was initiated by DUX4 bin

296 pe, we disrupted mouse Six5 by replacing the first exon with a beta-galactosidase reporter.

297 and replaced the translation start site and first exon with a lacZ reporter gene.

298 n the germline of mice by replacement of the first exon with the lacZ-coding region.

299 on that the program could predict 86% of the first exons with 17% false positives.

300 methylation within the Gsalpha promoter and first exon, with no H3K9 methylation.