ライフサイエンスコーパス: splice donor site

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

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

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

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

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

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

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

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

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

10 5' splice site D2 was changed to a consensus splice donor site.

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

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

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

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

15 1 contributes to recognition of nonconsensus splice donor sites.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

51 +2_6473+3delTG, which disrupts the invariant splice donor site in intron 42, in both affected individ

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

71 6q23 linked LGMD1D/1E to be due to an intron splice donor site mutation (IVS3+3A>G) of the desmin gen

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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