A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains
Manuel Irimia,Manuel Irimia,Robert J. Weatheritt,Jonathan D. Ellis,Neelroop N. Parikshak,Thomas Gonatopoulos-Pournatzis,Mariana Babor,Mathieu Quesnel-Vallières,Javier Tapial,Bushra Raj,Dave O'Hanlon,Miriam Barrios-Rodiles,Michael J.E. Sternberg,Sabine P. Cordes,Frederick P. Roth,Jeffrey L. Wrana,Jeffrey L. Wrana,Daniel H. Geschwind,Benjamin J. Blencowe +18 more
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TLDR
The results reveal a highly conserved program of dynamic microexon regulation associated with the remodeling of protein-interaction networks during neurogenesis, the misregulation of which is linked to autism.About:
This article is published in Cell.The article was published on 2014-12-18 and is currently open access. It has received 535 citations till now. The article focuses on the topics: Alternative splicing & Splicing factor.read more
Citations
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GENCODE reference annotation for the human and mouse genomes.
Adam Frankish,Mark Diekhans,Anne-Maud Ferreira,Rory Johnson,Irwin Jungreis,Irwin Jungreis,Jane E. Loveland,Jonathan M. Mudge,Cristina Sisu,Cristina Sisu,James C. Wright,Joel Armstrong,If Barnes,Andrew Berry,Alexandra Bignell,Silvia Carbonell Sala,Jacqueline Chrast,Fiona Cunningham,Tomás Di Domenico,Sarah Donaldson,Ian T. Fiddes,Carlos García Girón,Jose Manuel Gonzalez,Tiago Grego,Matthew P. Hardy,Thibaut Hourlier,Toby Hunt,Osagie G. Izuogu,Julien Lagarde,Fergal J. Martin,Laura Martinez,Shamika Mohanan,Paul R. Muir,Fabio C. P. Navarro,Anne Parker,Baikang Pei,Fernando Pozo,Magali Ruffier,Bianca M. Schmitt,Eloise Stapleton,Marie-Marthe Suner,Irina Sycheva,Barbara Uszczynska-Ratajczak,Jinuri Xu,Andrew D. Yates,Daniel R. Zerbino,Yan Zhang,Yan Zhang,Bronwen Aken,Jyoti S. Choudhary,Mark Gerstein,Roderic Guigó,Tim Hubbard,Manolis Kellis,Manolis Kellis,Benedict Paten,Alexandre Reymond,Michael L. Tress,Paul Flicek +58 more
TL;DR: This work generates primary data, creates bioinformatics tools and provides analysis to support the work of expert manual gene annotators and automated gene annotation pipelines to identify and characterise gene loci to the highest standard.
Journal ArticleDOI
Predicting Splicing from Primary Sequence with Deep Learning.
Kishore Jaganathan,Sofia Kyriazopoulou Panagiotopoulou,Jeremy F. McRae,Siavash Fazel Darbandi,David A. Knowles,Yang I. Li,Jack A. Kosmicki,Jack A. Kosmicki,Juan Arbelaez,Wenwu Cui,Grace Schwartz,Eric D. Chow,Efstathios Kanterakis,Hong Gao,Amirali Kia,Serafim Batzoglou,Stephen Sanders,Kyle Kai-How Farh +17 more
TL;DR: A deep neural network is described that accurately predicts splice junctions from an arbitrary pre-mRNA transcript sequence, enabling precise prediction of noncoding genetic variants that cause cryptic splicing.
Journal ArticleDOI
RNA mis-splicing in disease
TL;DR: An overview of RNA splicing mechanisms is provided followed by a discussion of disease-associated errors, with an emphasis on recently described mutations that have provided new insights into splicing regulation.
Journal ArticleDOI
Alternative splicing as a regulator of development and tissue identity
TL;DR: This work has shown that coordinated splicing networks regulate tissue and organ development, and that alternative splicing has important physiological functions in different developmental processes in humans.
Journal ArticleDOI
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
Michael J. Gandal,Pan Zhang,Evi Hadjimichael,Rebecca L. Walker,Chao Chen,Shuang Liu,Hyejung Won,Harm van Bakel,Merina Varghese,Yongjun Wang,Annie W. Shieh,Jillian R. Haney,Sepideh Parhami,Judson Belmont,Minsoo Kim,Patricia Moran Losada,Zenab Khan,Justyna Mleczko,Yan Xia,Yan Xia,Rujia Dai,Rujia Dai,Daifeng Wang,Yucheng T. Yang,Min Xu,Kenneth N. Fish,Patrick R. Hof,Jonathan Warrell,Dominic Fitzgerald,Kevin P. White,Andrew E. Jaffe,Mette A. Peters,Mark Gerstein,Chunyu Liu,Chunyu Liu,Chunyu Liu,Lilia M. Iakoucheva,Dalila Pinto,Daniel H. Geschwind +38 more
TL;DR: This work integrated genotypes and RNA sequencing in brain samples from 1695 individuals with autism spectrum disorder, schizophrenia, and bipolar disorder, as well as controls to identify causal drivers and define a mechanistic basis for the composite activity of genetic risk variants.
References
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