ライフサイエンスコーパス: splice acceptor site

1 luding a previously unreported mutation in a splice acceptor site.

2 plorhines, with its evolutionary origin as a splice acceptor site.

3 is 24 nucleotides upstream of the canonical splice acceptor site.

4 ither cryptic promoter activity or a cryptic splice acceptor site.

5 sequences of a polyadenylation signal and a splice acceptor site.

6 the 81 bases form a consensus sequence for a splice acceptor site.

7 nd localized the 3' end in the vicinity of a splice acceptor site.

8 of the six changes is likely to create a new splice acceptor site.

9 as an A(-2)--> G substitution at the exon 14 splice acceptor site.

10 branch points was used as the predominant 3' splice acceptor site.

11 p3 gene in NZB mice, which generates a novel splice acceptor site.

12 splicing of different 5' exons onto a common splice acceptor site.

13 mozygous A-->G transition 2 bp upstream of a splice acceptor site.

14 production and mutating the COOLAIR proximal splice acceptor site.

15 a G34S substitution, it also generates a 3' splice acceptor site.

16 28 separate individuals, only two affect the splice-acceptor site.

17 We find that expanded CAG repeats create new splice acceptor sites.

18 region 80 to 120 bases away from the ends of splice acceptor sites.

19 A) site, the major splice donor site and the splice acceptor sites.

20 There are alternative splice acceptor sites, 3 base pairs apart, which account

21 nucleotide polymorphism in the XPC intron 11 splice acceptor site (58% C in 97 normals) decreased its

22 onsequence of three defects; a suboptimal 3' splice acceptor site, a suboptimal 5' splice donor site

23 s deletion results in the loss of the exon 2 splice acceptor site, absence of exon 2 from the CP49 mR

24 tween the branchpoint (BP) and the canonical splice acceptor site (ACC) of protein-coding genes can d

25 To identify the splice donor sites and splice acceptor sites accurately and quickly, a deep spa

26 The env-like ORF begins with a putative splice acceptor site and encodes a protein with a predic

27 cript resulted from utilization of a cryptic splice acceptor site and returned the open reading frame

28 ergenic region promoter together with its 3' splice acceptor sites and the 5' untranslated region (UT

29 diac myosin binding protein-C (1 nonsense, 1 splice acceptor site, and 3 missense), cardiac troponin

30 A conserved AG dinucleotide serves as the 3' splice acceptor site, and analysis of native processing

31 IFITM3 allele (SNP rs12252-C) that alters a splice acceptor site, and functional assays show the min

32 had acquired mutations at or adjacent to the splice acceptor site, and three others had acquired dual

33 enes; (2) the 29 nucleotides surrounding the splice acceptor site are absolutely conserved in all eig

34 inhibit the 5' LTR poly(A) site, whereas the splice acceptor sites are inefficient, allowing full-len

35 sent in a 52 bp exon with a non-canonical 3' splice acceptor site at its 5' end and an internal 3' sp

36 plice donor site at nucleotide (nt) 226, the splice acceptor site at nt 409, or a TATAA box at nt 789

37 Erythroid precursors use two splice acceptor sites at the 5' end of exon 2, thereby g

38 site AUG1 and is located between alternative splice acceptor sites at the 5' end of exon 2; its inclu

39 There are no splicing acceptor sites at the PTP-oc transcription site

40 t enrichment of ESEs is associated with weak splice acceptor sites but not weak donor sites.

41 he 430T allele enhances the use of a cryptic splice acceptor site, causing the introduction of a prem

42 se that this switch results from a change in splice acceptor site choice.

43 ceptor site at its 5' end and an internal 3' splice acceptor site consensus 45 bp downstream.

44 l amino acids, and the mutation of a cryptic splice acceptor site did not detectably alter Cre recomb

45 mmediately 3' to the predicted FMO6 intron 8 splice acceptor site, diminishing the efficiency of this

46 tions in the splice donor site (E6SD) or the splice acceptor site (E6SA), a deletion of the intron (E

47 terozygous mutation (G>T) in intron 3 at the splice acceptor site for exon 4, leading to a frameshift

48 (low) has a nucleotide substitution near the splice acceptor site for intron 2 that impairs the produ

49 We have defined the splice acceptor site for the 4.3 GARP gene by sequencing

50 due to a single base pair difference at the splice acceptor site for the truncated product.

51 An SNP located 18 bp upstream of the splice-acceptor site for exon 3 was observed in 7 of the

52 00 MPE cells carried a 21-bp deletion in the splicing acceptor site for exon 9.

53 to splicing that are subsequent to terminal splice acceptor site function, but before catalysis, hav

54 dified homing drive that included an optimal splice acceptor site, hemizygous females from each of th

55 These isoforms differ in their splice acceptor sites; human MPI is translated into a po

56 sition found in four patients which alters a splice acceptor site in exon 12 and leads to a three ami

57 codon as well as a new downstream cryptic 3' splice acceptor site in exon 13, responsible for the 67

58 rst untranslated exons that utilize a common splice acceptor site in exon 2.

59 on alpha) within intron 5 and an alternative splice acceptor site in exon 6, splitting exon 6 into tw

60 located 57 bases downstream of the authentic splice acceptor site in exon B.

61 g event is associated with a mutation at the splice acceptor site in intron 4.

62 e, we comprehensively characterize a cryptic splice acceptor site in the 3'UTR of the NOTCH1 gene bei

63 ays, we have shown that a mutation at the 3' splice acceptor site in the Arabidopsis chalcone synthas

64 r upstream or downstream of the wild-type 3' splice acceptor site in this intergenic region.

65 ion genes in trypanosomatids, we have mapped splice acceptor sites in the 5' flanking region of the T

66 rms are generated by the use of two distinct splice acceptor sites in the third exon situated 278 bas

67 ) was heterozygous for an A-->G shift at the splice-acceptor site in intron 3, and in the second alle

68 t in the DMD gene that gives rise to a novel splice acceptor site, incorporation of a cryptic exon an

69 The splice acceptor site is at -45 relative to the initiatin

70 We demonstrate that a terminal splice acceptor site is essential to establish coupling

71 creation of a novel intra-exonic pre-mRNA 3' splice acceptor site leading to in-frame loss of 27 nucl

72 mutation in an intron that creates a cryptic splice acceptor site leading to premature stop codon, SY

73 table line, the elimination of the native 3' splice acceptor site led to the accumulation of Y-branch

74 t is the result of the use of an alternative splice acceptor site located in exon 10.

75 ing in a frameshift, and one had a canonical splice acceptor site loss.

76 ansposon insertion, while CHG methylation at splice acceptor sites may inhibit RNA splicing.

77 which a point mutation creates a cryptic 3' splice acceptor site motif that is used preferentially o

78 Whole-exome capture revealed a homozygous splice acceptor site mutation (c.698G>T) in the renal Mg

79 rt, we describe a new mouse model carrying a splice acceptor site mutation in Rpgrip1, herein referre

80 for 54% of those observed in our cohort, the splice acceptor site mutation IVS8 -1G-->C (22/64 allele

81 a9 variant, the deletion was not caused by a splice acceptor site mutation.

82 There was also a splice acceptor-site mutation, a nonsense mutation, a si

83 ual system and we have characterized a novel splice-acceptor site mutation in patched2 that results i

84 The underrepresentation of splice acceptor-site mutations suggests that the favored

85 : 241498239 T/C) resulting in formation of a splice acceptor site near a polypyrimidine tract, and a

86 ptic donor site within the first exon to the splice acceptor site of exon 2.

87 sm caused by an A--> G point mutation in the splice acceptor site of intron 1 of the beta2m gene, del

88 , we have found a G-->A transition in the 3" splice acceptor site of intron 2 of the DSG1 gene which

89 trievers (GRMD), a point mutation within the splice acceptor site of intron 6 leads to deletion of ex

90 A third mutation at the splice acceptor site of intron 9 generated splicing at a

91 l intronic mutation, g.31701T>A, in the last splice acceptor site of the adenosine deaminase (ADA) ge

92 ment (located 80 nucleotides upstream of the splice acceptor site of the downstream exon E10) is comp

93 led a variant (c.3383-1G>A) in the canonical splice acceptor site of the final exon.

94 The mutation appeared at the splice-acceptor site of intron 12, resulted in the skipp

95 splicing mutations involved the canonical AG splice-acceptor site or GT splice-donor site.

96 to increased utilization of an alternate 3' splice acceptor site, perturbing normal alpha-spectrin m

97 of a 4-amino acid long insertion caused by a splice acceptor site polymorphism.

98 is splice donor site in conjunction with the splice acceptor site present between intron 8 and exon 9

99 ficient mouse model, in which we mutated the splice acceptor site responsible for generating circTulp

100 The mutation creates a new splice acceptor site resulting in aberrant OPA1 transcri

101 nsertion (indel) variant creating an ectopic splice acceptor site, resulting in a mutant transcript w

102 We identified 5' splice-acceptor sites (SAS) and polyadenylation sites (P

103 ssential for retrovirus viability, such as a splicing acceptor site, TATA box and polyA addition sign

104 splicing and increased use of an alternative splice acceptor site that causes a partial intron retent

105 We identified in the env region a new splice acceptor site that generated two transcripts, eac

106 EDDR2 is generated because of a cryptic splice acceptor site that results in an extra 18 bp (6 a

107 d in the antisense orientation, they provide splice acceptor sites that can result in incorporation o

108 art from the P-element insertions containing splice acceptor sites that create alternative processing

109 RCA1/2 secondary mutations that formed novel splice acceptor sites, the latter being confirmed by in

110 The deletion includes the splice acceptor site upstream of the second coding exon

111 The c.193-14 G-->A mutation creates a splice-acceptor site upstream of exon 3, resulting in a

112 A third patient with CSS with DOCK8 mRNA splice acceptor site variant was explored by exon trappi

113 and the fourth, a novel biallelic canonical splice acceptor site variant, c.607-2A T.

114 change located at position -3 of the exon 24 splice acceptor site was also more common in patients th

115 In addition, one splice acceptor site was at best underutilized.

116 a 0 mRNA and the utilization of at least one splice acceptor site was regulated by ICP22 and or US1.5

117 mRNAs resulting from the use of alternative splice acceptor sites were also present in the cytoplasm

118 enomes in either the E6 splice-donor site or splice-acceptor site were reduced in replication ability

119 The splice acceptor site which generates env mRNA has been m

120 ation in ISCU that likely strengthens a weak splice acceptor site, with consequent exon retention.

121 ults from a G-->A substitution mutation in a splice acceptor site within the alpha-subunit of Rab ger

122 espond to the accepted splice donor and four splice acceptor sites within the mapped intron domain.

123 the primary USF2 transcript using a cryptic splicing acceptor site within exon 6.

124 The most distant splice acceptor site yields the mRNA encoding the 775-aa