Functional analysis of deep intronic SNP rs13438494 in intron 24 of PCLO gene.
The single nucleotide polymorphism (SNP) rs13438494 in intron 24 of PCLO was significantly associated with bipolar disorder in a meta-analysis of genome-wide association studies. In this study, we performed functional minigene analysis and bioinformatics prediction of splicing regulatory sequences t...
Guardado en:
| Autores principales: | , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Public Library of Science (PLoS)
2013
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/e3b134233dc14da5b793eb7ec80bad3e |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:e3b134233dc14da5b793eb7ec80bad3e |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:e3b134233dc14da5b793eb7ec80bad3e2021-11-18T08:50:02ZFunctional analysis of deep intronic SNP rs13438494 in intron 24 of PCLO gene.1932-620310.1371/journal.pone.0076960https://doaj.org/article/e3b134233dc14da5b793eb7ec80bad3e2013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24167553/?tool=EBIhttps://doaj.org/toc/1932-6203The single nucleotide polymorphism (SNP) rs13438494 in intron 24 of PCLO was significantly associated with bipolar disorder in a meta-analysis of genome-wide association studies. In this study, we performed functional minigene analysis and bioinformatics prediction of splicing regulatory sequences to characterize the deep intronic SNP rs13438494. We constructed minigenes with A and C alleles containing exon 24, intron 24, and exon 25 of PCLO to assess the genetic effect of rs13438494 on splicing. We found that the C allele of rs13438494 reduces the splicing efficiency of the PCLO minigene. In addition, prediction analysis of enhancer/silencer motifs using the Human Splice Finder web tool indicated that rs13438494 induces the abrogation or creation of such binding sites. Our results indicate that rs13438494 alters splicing efficiency by creating or disrupting a splicing motif, which functions by binding of splicing regulatory proteins, and may ultimately result in bipolar disorder in affected people.Seunghee SeoKanako TakayamaKyosuke UnoKazutaka OhiRyota HashimotoDaisuke NishizawaKazutaka IkedaNorio OzakiToshitaka NabeshimaYoshiaki MiyamotoAtsumi NittaPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 10, p e76960 (2013) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Seunghee Seo Kanako Takayama Kyosuke Uno Kazutaka Ohi Ryota Hashimoto Daisuke Nishizawa Kazutaka Ikeda Norio Ozaki Toshitaka Nabeshima Yoshiaki Miyamoto Atsumi Nitta Functional analysis of deep intronic SNP rs13438494 in intron 24 of PCLO gene. |
| description |
The single nucleotide polymorphism (SNP) rs13438494 in intron 24 of PCLO was significantly associated with bipolar disorder in a meta-analysis of genome-wide association studies. In this study, we performed functional minigene analysis and bioinformatics prediction of splicing regulatory sequences to characterize the deep intronic SNP rs13438494. We constructed minigenes with A and C alleles containing exon 24, intron 24, and exon 25 of PCLO to assess the genetic effect of rs13438494 on splicing. We found that the C allele of rs13438494 reduces the splicing efficiency of the PCLO minigene. In addition, prediction analysis of enhancer/silencer motifs using the Human Splice Finder web tool indicated that rs13438494 induces the abrogation or creation of such binding sites. Our results indicate that rs13438494 alters splicing efficiency by creating or disrupting a splicing motif, which functions by binding of splicing regulatory proteins, and may ultimately result in bipolar disorder in affected people. |
| format |
article |
| author |
Seunghee Seo Kanako Takayama Kyosuke Uno Kazutaka Ohi Ryota Hashimoto Daisuke Nishizawa Kazutaka Ikeda Norio Ozaki Toshitaka Nabeshima Yoshiaki Miyamoto Atsumi Nitta |
| author_facet |
Seunghee Seo Kanako Takayama Kyosuke Uno Kazutaka Ohi Ryota Hashimoto Daisuke Nishizawa Kazutaka Ikeda Norio Ozaki Toshitaka Nabeshima Yoshiaki Miyamoto Atsumi Nitta |
| author_sort |
Seunghee Seo |
| title |
Functional analysis of deep intronic SNP rs13438494 in intron 24 of PCLO gene. |
| title_short |
Functional analysis of deep intronic SNP rs13438494 in intron 24 of PCLO gene. |
| title_full |
Functional analysis of deep intronic SNP rs13438494 in intron 24 of PCLO gene. |
| title_fullStr |
Functional analysis of deep intronic SNP rs13438494 in intron 24 of PCLO gene. |
| title_full_unstemmed |
Functional analysis of deep intronic SNP rs13438494 in intron 24 of PCLO gene. |
| title_sort |
functional analysis of deep intronic snp rs13438494 in intron 24 of pclo gene. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2013 |
| url |
https://doaj.org/article/e3b134233dc14da5b793eb7ec80bad3e |
| work_keys_str_mv |
AT seungheeseo functionalanalysisofdeepintronicsnprs13438494inintron24ofpclogene AT kanakotakayama functionalanalysisofdeepintronicsnprs13438494inintron24ofpclogene AT kyosukeuno functionalanalysisofdeepintronicsnprs13438494inintron24ofpclogene AT kazutakaohi functionalanalysisofdeepintronicsnprs13438494inintron24ofpclogene AT ryotahashimoto functionalanalysisofdeepintronicsnprs13438494inintron24ofpclogene AT daisukenishizawa functionalanalysisofdeepintronicsnprs13438494inintron24ofpclogene AT kazutakaikeda functionalanalysisofdeepintronicsnprs13438494inintron24ofpclogene AT norioozaki functionalanalysisofdeepintronicsnprs13438494inintron24ofpclogene AT toshitakanabeshima functionalanalysisofdeepintronicsnprs13438494inintron24ofpclogene AT yoshiakimiyamoto functionalanalysisofdeepintronicsnprs13438494inintron24ofpclogene AT atsuminitta functionalanalysisofdeepintronicsnprs13438494inintron24ofpclogene |
| _version_ |
1718421293436502016 |