NDLI: Functional Analysis of Deep Intronic SNP rs13438494 in Intron 24 of PCLO Gene

Content Provider	PubMed Central
Author	Seo, Seunghee Takayama, Kanako Uno, Kyosuke Ohi, Kazutaka Hashimoto, Ryota Nishizawa, Daisuke Ikeda, Kazutaka Ozaki, Norio Nabeshima, Toshitaka Miyamoto, Yoshiaki Nitta, Atsumi
Editor	Liu, Chunyu
Copyright Year	2013
Abstract	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.
Related Links	http://dx.doi.org/10.1371/journal.pone.0076960
Starting Page	76960
File Format	PDF
ISSN	19326203
e-ISSN	19326203
Journal	PLoS ONE
Issue Number	10
Volume Number	8
Language	English
Publisher	Public Library of Science
Publisher Date	2013-10-01
Access Restriction	Open
Rights Holder	Public Library of Science
Subject Keyword	Biochemistry, Genetics and Molecular Biology(all) Agricultural and Biological Sciences(all) Medicine(all) Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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