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Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

Matos L, Gonçalves V, Pinto E, Laranjeira F, Prata MJ, Jordan P, Desviat LR, Pérez B, Alves S - Data Brief (2015)

Bottom Line: We have performed splicing assays for the wild-type and mutant minigenes corresponding to these substitutions.In addition, bioinformatic predictions of splicing regulatory sequence elements as well as RNA interference and overexpression experiments were conducted.The interpretation of these data and further extensive experiments into the analysis of these three mutations and also into the methodology applied to correct one of them can be found in "Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II" Matos et al. (2015) [1].

View Article: PubMed Central - PubMed

Affiliation: Research and Development Unit, Department of Human Genetics, INSA, Porto, Portugal ; Department of Biology, Faculty of Sciences, University of Porto, Porto, Portugal.

ABSTRACT
This data article contains insights into the methodology used for the analysis of three exonic mutations altering the splicing of the IDS gene: c.241C>T, c.257C>T and c.1122C>T. We have performed splicing assays for the wild-type and mutant minigenes corresponding to these substitutions. In addition, bioinformatic predictions of splicing regulatory sequence elements as well as RNA interference and overexpression experiments were conducted. The interpretation of these data and further extensive experiments into the analysis of these three mutations and also into the methodology applied to correct one of them can be found in "Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II" Matos et al. (2015) [1].

No MeSH data available.


Related in: MedlinePlus

: Bioinformatic predictions of splicing regulatory sequence elements in IDS exon 3 using the ESEfinder 3.0 software. For the mutation c.241C>T, no alterations were predicted. In the presence of the c.257C>T mutation, a putative binding motif for SRSF1 (formerly ASF/SF2) is slightly altered (red square) and a binding motif for SRSF2 (formerly SC35) is eliminated (blue square).
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f0015: : Bioinformatic predictions of splicing regulatory sequence elements in IDS exon 3 using the ESEfinder 3.0 software. For the mutation c.241C>T, no alterations were predicted. In the presence of the c.257C>T mutation, a putative binding motif for SRSF1 (formerly ASF/SF2) is slightly altered (red square) and a binding motif for SRSF2 (formerly SC35) is eliminated (blue square).

Mentions: Here, we performed cell-based functional splicing assays to deeper analyze the effects of two splicing mutations located in exon 3 of IDS, c.241C>T and c.257C>T and one in exon 8, c.1122C>T that were also studied in Matos et al. [1]. The pathogenic effects of these mutations are shown in Fig. 1. Also, all the data relative to oligonucleotides sequences used in the work are depicted in Table 1. Furthermore, to identify the putative SR proteins involved in the splicing regulation we have undertaken bioinformatic predictions of splicing regulatory elements (SREs) in the IDS exon 3 (where the mutations c.241C>T and c.257C>T are located) using ESEfinder 3.0 and Splicing Rainbow software (Fig. 2 and 3). Finally, we have conducted RNAi and overexpression experiments that were quantified by Real time PCR and Western blot (Table 1, Table 2 and Fig. 4).


Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II.

Matos L, Gonçalves V, Pinto E, Laranjeira F, Prata MJ, Jordan P, Desviat LR, Pérez B, Alves S - Data Brief (2015)

: Bioinformatic predictions of splicing regulatory sequence elements in IDS exon 3 using the ESEfinder 3.0 software. For the mutation c.241C>T, no alterations were predicted. In the presence of the c.257C>T mutation, a putative binding motif for SRSF1 (formerly ASF/SF2) is slightly altered (red square) and a binding motif for SRSF2 (formerly SC35) is eliminated (blue square).
© Copyright Policy - CC BY
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4660375&req=5

f0015: : Bioinformatic predictions of splicing regulatory sequence elements in IDS exon 3 using the ESEfinder 3.0 software. For the mutation c.241C>T, no alterations were predicted. In the presence of the c.257C>T mutation, a putative binding motif for SRSF1 (formerly ASF/SF2) is slightly altered (red square) and a binding motif for SRSF2 (formerly SC35) is eliminated (blue square).
Mentions: Here, we performed cell-based functional splicing assays to deeper analyze the effects of two splicing mutations located in exon 3 of IDS, c.241C>T and c.257C>T and one in exon 8, c.1122C>T that were also studied in Matos et al. [1]. The pathogenic effects of these mutations are shown in Fig. 1. Also, all the data relative to oligonucleotides sequences used in the work are depicted in Table 1. Furthermore, to identify the putative SR proteins involved in the splicing regulation we have undertaken bioinformatic predictions of splicing regulatory elements (SREs) in the IDS exon 3 (where the mutations c.241C>T and c.257C>T are located) using ESEfinder 3.0 and Splicing Rainbow software (Fig. 2 and 3). Finally, we have conducted RNAi and overexpression experiments that were quantified by Real time PCR and Western blot (Table 1, Table 2 and Fig. 4).

Bottom Line: We have performed splicing assays for the wild-type and mutant minigenes corresponding to these substitutions.In addition, bioinformatic predictions of splicing regulatory sequence elements as well as RNA interference and overexpression experiments were conducted.The interpretation of these data and further extensive experiments into the analysis of these three mutations and also into the methodology applied to correct one of them can be found in "Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II" Matos et al. (2015) [1].

View Article: PubMed Central - PubMed

Affiliation: Research and Development Unit, Department of Human Genetics, INSA, Porto, Portugal ; Department of Biology, Faculty of Sciences, University of Porto, Porto, Portugal.

ABSTRACT
This data article contains insights into the methodology used for the analysis of three exonic mutations altering the splicing of the IDS gene: c.241C>T, c.257C>T and c.1122C>T. We have performed splicing assays for the wild-type and mutant minigenes corresponding to these substitutions. In addition, bioinformatic predictions of splicing regulatory sequence elements as well as RNA interference and overexpression experiments were conducted. The interpretation of these data and further extensive experiments into the analysis of these three mutations and also into the methodology applied to correct one of them can be found in "Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II" Matos et al. (2015) [1].

No MeSH data available.


Related in: MedlinePlus