ライフサイエンスコーパス: splice donor site

1 ed new mutants specifically lacking the I mu splice donor site.

2 s a frameshift, and one affected a canonical splice donor site.

3 of the epsilon subunit, and one occurs at a splice donor site.

4 econd has a G-T substitution at the IVS2 + 1 splice donor site.

5 GAP results from utilization of an alternate splice donor site.

6 on 16 deleted due to a point mutation in the splice donor site.

7 utation 6 bp upstream of the GP(IIIa) exon 9 splice donor site.

8 ative transcript arises by read-through of a splice donor site.

9 end of the genome, often involving the major splice donor site.

10 The c.393G > T variant is shown to disrupt a splice donor site.

11 either the identified M2 splice acceptor or splice donor site.

12 ation Project carrying a point mutation in a splice donor site.

13 5' splice site D2 was changed to a consensus splice donor site.

14 cts on the splicing efficiency of the mutant splice donor site.

15 the canonical AG splice-acceptor site or GT splice-donor site.

16 ve are missense, and one affects a canonical splice-donor site.

17 1 contributes to recognition of nonconsensus splice donor sites.

18 y function with SCNM1 in recognition of weak splice donor sites.

19 ein involved in recognition of non-consensus splice donor sites.

20 h as CpG islands, promoter regions and first splice-donor sites.

21 The mutation creates a false GT splice donor site 105 bases 5' of exon 3 and has been de

22 pGFP-11E1dm and p11Rc-E1dm, mutated at the splice donor site, abolished these splices and increased

23 which alters an invariable nucleotide in the splice donor site after exon 16 of the Trf gene.

24 letion of the alternative intron between the splice donor site and alternative acceptor sites resulte

25 Both are predicted to create a cryptic splice donor site and an out-of-frame pseudoexon.

26 ed the 5' end of the 5-kb RNA to a consensus splice donor site and localized the 3' end in the vicini

27 putative stem-loop structures between the 5' splice donor site and the gag initiation codon have been

28 mal 3' splice acceptor site, a suboptimal 5' splice donor site and the small size of the exon.

29 These include the poly(A) site, the major splice donor site and the splice acceptor sites.

30 To identify the splice donor sites and splice acceptor sites accurately

31 d at the 3' neighboring nucleotide of the GT splice-donor site and disrupts a predicted stem-loop str

32 had deletions in the packaging signal/major splice donor site, and 7 (1.0%) were sequence intact.

33 ocation, a de novo substitution disrupting a splice donor site, and a 3 bp duplication that cosegrega

34 ession was abolished by cis mutations in the splice donor site at nucleotide (nt) 226, the splice acc

35 coding sequence originated via the loss of a splice donor site at the 3' end of exon 14, leading to t

36 is produced via a run-on event in which the splice donor site at the end of the last constant domain

37 unusual juxtaposition of exons requires that splice donor sites at the 5' end of the respective termi

38 donor site, located nine nt 5' to the normal splice donor site, begins with the dinucleotide GC.

39 llele, an A-->T nucleotide transversion in a splice donor site causes exon skipping and deletion of 5

40 novo mutation in USP9Y: a 4-bp deletion in a splice-donor site, causing an exon to be skipped and pro

41 In family M456, we detected a splice-donor site change in a novel MKS gene, B9D1.

42 D1 G/A870 polymorphism, which resides in the splice donor site controlling transcript-b production.

43 splice site mutations led to use of cryptic splice donor sites, creation of a downstream premature t

44 Mutation of the splice donor site does not affect suppression by these s

45 HPV31 genomes which had mutations in the splice donor site (E6SD) or the splice acceptor site (E6

46 ation, thus confirming the necessity for the splice donor site for Sag function.

47 ion mutation and the activation of a cryptic splice donor site from the insertion mutation.

48 .0018) and a variant that alters a canonical splice donor site, g.16-88737727-C-G Hg38 (OR 0.38, P =

49 The use of this splice donor site in conjunction with the splice accepto

50 The first ATG and splice donor site in exon -1 is predicted to transcribe

51 ns that increase utilization of an alternate splice donor site in exon 11 of LMNA (the gene encoding

52 This mutation activates a cryptic splice donor site in exon 11, and leads to an in-frame d

53 mutation at codon 209; and a mutation at the splice donor site in exon 4.

54 have identified the usage of a non-consensus splice donor site in four families with an intron 4 spli

55 +2_6473+3delTG, which disrupts the invariant splice donor site in intron 42, in both affected individ

56 A third mutation affecting the splice donor site in intron 7 was found in one (1.5%) fa

57 germline mutations at the p14ARF exon 1beta splice donor site in melanoma pedigrees.

58 us single nucleotide change that abolishes a splice donor site in the ARV1 gene (c.294 + 1G > A homoz

59 dies have indicated that a polymorphism in a splice donor site in the cyclin D1 gene is associated wi

60 utant embryos have a G-->T transversion at a splice donor site in the ferrochelatase gene, creating a

61 d for efficient in vivo splicing of a mutant splice donor site in the sodium channel Scn8a.

62 Jinx mice harbor a cryptic splice donor site in Unc13d intron 26 and develop clinic

63 ons change the G1 position of alternative 5' splice donor sites in exon 1.

64 ly observed when improving several potential splice donor sites in the presence of 3' CAG.

65 ) was homozygous for a G-->C mutation at the splice-donor site in the intron, between exon 1 and exon

66 ce sites, and creation of splice-acceptor or splice-donor sites in either introns or exons.

67 ipping mutation (IVS3+5G-->A at the intron 3 splice-donor site) in two unrelated families with SEDL.

68 ations tested so far have left the I mu exon splice donor site intact.

69 Consequently, the normal splice donor site is disrupted and an internal cryptic s

70 this G60G mutation in KRAS(Q61K), a cryptic splice donor site is formed, promoting alternative splic

71 the 5' side of the intron, encompassing the splice donor site, is prominently protected by nuclear p

72 d revealed the G to A mutation in the exon 1 splice donor site (IVS1+1G-->A) which is predicted to de

73 In addition, two splice donor sites may be utilized to generate Cbfa1/Osf

74 e interaction of the U1 snRNP with the major splice donor site (MSD).

75 lated and located to the nucleus, except one splice-donor site mutant whose protein did not accumulat

76 ntial pathogenic mutations, such as a common splice donor site mutation (IVS1+2T-->C) and various mis

77 6q23 linked LGMD1D/1E to be due to an intron splice donor site mutation (IVS3+3A>G) of the desmin gen

78 s expressing a missense mutation (R92Q) or a splice donor site mutation (trunc) in the cardiac tropon

79 A disease-segregating splice donor site mutation in MYH11 (c.4599+1delG) was i

80 zsla dogs and identifies a highly associated splice donor site mutation in SNX14, with an autosomal r

81 that the white recessive allele is due to a splice donor site mutation in the scavenger receptor B1

82 An intron 1 splice donor site mutation of the Waxy gene is responsib

83 The intron 9 alternative splice donor site mutation seen in Frasier syndrome lead

84 s varieties in Northeast Asia also carry the splice donor site mutation, suggesting that partial supp

85 was used to genotype individual dogs at the splice donor site mutation.

86 ndrome patient, PBD100, was homozygous for a splice donor-site mutation that results in exon skipping

87 d family, we identified a NFKB1 heterozygous splice-donor-site mutation (c.730+4A>G), causing in-fram

88 CEAD with a nonsense mutation (R315X) and a splice-donor-site mutation at position +3 of intron 16 (

89 Resequencing ADAMTS17 revealed a GT-->AT splice-donor-site mutation at the 5' end of intron 10.

90 red with Marshall syndrome, we demonstrate a splice-donor-site mutation in the COL11A1 gene that cose

91 ys147Ser), or an experimentally demonstrated splice-donor-site mutation, c.270+4A>G.

92 tified a homozygous splicing mutation in the splice donor site of exon 2 (c.504+1G>A) of RMND1 (requi

93 xcept that GC instead of GT was found in the splice donor site of exon 4.

94 A-->T transversion at the +3 position in the splice donor site of intron 10 (gtaaagt-->gttaagt) in al

95 RNA because of a base substitution at the 5' splice donor site of intron 2 of the HLA-A2 gene.

96 gle nucleotide substitution in the conserved splice donor site of intron 2.

97 on boundaries conform to the GT/AG rule; the splice donor site of intron 3 is GC/AG.

98 ch appeared to function redundantly with the splice donor site of intron 36.

99 A transition at the first nucleotide in the splice donor site of intron 37 completely disables this

100 A mutation in the splice donor site of intron 4 of PSEN-1 has been describ

101 es conform to the GT-AG rule, except for the splice donor site of intron 4 that is GC instead of GT.

102 s have shown that a splicing mutation in the splice donor site of intron 7 of the gene encoding the e

103 GT repeat tract was found adjacent to the 5'-splice donor site of intron 7/8A.

104 a previously reported splice variant in the splice donor site of intron IV in the hKLK2 gene.

105 We report a novel mutation in the exon 6 splice donor site of keratin 1 (G4134A) that segregates

106 results from a point deletion (G) in the 5' splice donor site of MICA intron 4 leading to exon 3 and

107 urthermore, site-directed mutagenesis of the splice donor site of the first intron affects both corre

108 se eukaryotic genes, which overlaps with the splice donor site of the first intron.

109 covered that the U1 RNA that binds to the 5' splice donor site of the second intron is fully responsi

110 The primary mutation (medJ) changes a splice donor site of the sodium channel gene Scn8a (Nav1

111 A mutation in an intron 1 splice donor site of the Waxy gene is responsible for th

112 e 5'-leader, the UTR that includes the major splice donor site of viral RNA.

113 NA analysis revealed a T-->G mutation at the splice donor site of XPC exon 9, which markedly reduced

114 We identified mutations in splice donor sites of genes coding melanophilin (MLPH) a

115 tions affected the consensus sequence at the splice donor sites of introns 1 and 9, and produced unst

116 used an adenine base editor (ABE) to modify splice donor sites of the dystrophin gene, causing skipp

117 of Ds in EPSPS was biased towards providing splice donor sites of the inserted Ds sequence.

118 The mutant splice-donor site of intron 16 harbors five discordant n

119 terval uncovered a mutation in the canonical splice-donor site of intron 5 of JAM3.

120 At the intron 8 splice-donor site of the COL1A1 gene, we identified a G+

121 ating a premature stop codon right after the splicing donor site of exon 8.

122 quences upstream and downstream of the major splice donor site on the formation of HIV-2 RNA dimers i

123 terestingly, mutant genomes in either the E6 splice-donor site or splice-acceptor site were reduced i

124 By virtue of containing two splice donor sites, ORF0 can also form fusion proteins w

125 te gene was used to discover a mutation in a splice donor site predicted to cause exon skipping.

126 lacking the entire 7.2-kb coding domain, the splice-donor site predicted to function in the generatio

127 M2 region, or identified splice acceptor and splice donor sites present in the previously characteriz

128 lamin A gene (LMNA) that activates a cryptic splice donor site, producing a truncated mutant protein

129 xon 11 sequences downstream from the exon 11 splice donor site promote alternate splicing in both wil

130 ar RNA (snRNA), the molecule responsible for splice-donor-site recognition.

131 (c.2991 + 1655A > G) that creates a cryptic splice donor site resulting in the insertion of a pseudo

132 mutation constitutively activates a cryptic splice donor site, resulting in a mutant lamin A protein

133 amily, the MCM9 c.1732+2T>C variant alters a splice donor site, resulting in abnormal alternative spl

134 The mutations in LMNA activate a cryptic splice donor site, resulting in expression of a truncate

135 ons in the LMNA gene that activate a cryptic splice donor site, resulting in the production of a toxi

136 A four-nucleotide insertion into a splice donor site results in exon skipping, translationa

137 A single base change within a splice donor site results in the incorrect retention of

138 One mutation, a change in the intron 15 splice donor site, results in two truncated forms of tro

139 Analysis of 1,801 native splice-donor sites reveals that presence of a G nucleoti

140 Mutations in the major splice donor site (SD) markedly reduced viral RNA expres

141 ed viral genome, and also contains the major splice-donor site (SD) for mRNA splicing.

142 y elements, including the TAR stem-loop, the splice donor site SD1, and the polyadenylation signal.

143 Manipulation of the splice donor site sequence enables control of the relati

144 gle-nucleotide mutations affecting consensus splice donor sites, some of which are recurrent, that le

145 ll nuclear RNAs (snRNA) complementary to the splice donor sites strongly improved or completely rescu

146 of a single nucleotide at the 3' end of the splice-donor site suggests a model whereby the yeast RNA

147 e G608G mutation generates a more accessible splicing donor site than does WT and produces an alterna

148 recombinant containing a mutation in the 5' splice donor site that defines the 5' end of the RNA and

149 This missense mutation creates a cryptic splice donor site that produces a mutant lamin A protein

150 beta(0) globin allele has a mutation in the splice donor site that produces the same aberrant transc

151 edicted from conservation of the alternative splice donor site that produces the SnoN2 isoform.

152 d the mitfa(vc7)ts allele is a mutation in a splice donor site that reduces the level of correctly-sp

153 of the 7.2-kb transcript maps to a consensus splice-donor site that is conserved among all cytomegalo

154 he translation start site and the intron 7-8 splice donor site to knock down spastin function in the

155 min A (LMNA) gene, which activates a cryptic splice donor site to produce abnormal lamin A; this disr

156 h the Ac transposon 5' end, which provided a splice donor site to yield abundant novel transcripts.

157 spliced, via exon skipping and alternate 5'-splice donor sites, to yield five splice variants (canin

158 g milk-borne MMTV transmission, we mutated a splice donor site unique to a spliced sag RNA from the 5

159 rminal region; the fourth mutation affects a splice donor site upstream of this region.

160 facial features, we identified a homozygous splice donor site variant (GenBank: NM_001378.2:c.607+1G

161 o successfully identify a disease-associated splice donor site variant in the sorting nexin 14 gene (

162 The GABRG2 intron 6 splice donor site was found to be mutated from GT to GG.

163 deletion of recognized and potential cryptic splice donor sites was able to abrogate these splicing e

164 on 10, immediately downstream from this rare splice donor site, was alternatively spliced.

165 consensus nucleotides at the +3 position of splice-donor sites, we constructed a minigene that spans

166 Furthermore, the splice acceptor and splice donor sites were conserved, and the size of the i

167 ad, we found within the fragment two cryptic splicing donor sites whose products were present in tran

168 which arises from the use of an alternative splice donor site within intron 1, is conserved in the m

169 ermed p12, through the use of an alternative splice donor site within intron 1.

170 A G60G silent mutation eliminates the splice donor site, yielding a functional KRAS(Q61K) vari