<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Yuan, Yuan</style></author><author><style face="normal" font="default" size="100%">Xie, Shirley</style></author><author><style face="normal" font="default" size="100%">Darnell, Jennifer C</style></author><author><style face="normal" font="default" size="100%">Darnell, Andrew J</style></author><author><style face="normal" font="default" size="100%">Saito, Yuhki</style></author><author><style face="normal" font="default" size="100%">Phatnani, Hemali</style></author><author><style face="normal" font="default" size="100%">Murphy, Elisabeth A</style></author><author><style face="normal" font="default" size="100%">Zhang, Chaolin</style></author><author><style face="normal" font="default" size="100%">Maniatis, Tom</style></author><author><style face="normal" font="default" size="100%">Darnell, Robert B</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Cell type-specific CLIP reveals that NOVA regulates cytoskeleton interactions in motoneurons.</style></title><secondary-title><style face="normal" font="default" size="100%">Genome Biol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Genome Biol.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Alternative Splicing</style></keyword><keyword><style  face="normal" font="default" size="100%">Amino Acid Sequence</style></keyword><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Cercopithecus aethiops</style></keyword><keyword><style  face="normal" font="default" size="100%">Chromosomes, Artificial, Bacterial</style></keyword><keyword><style  face="normal" font="default" size="100%">COS Cells</style></keyword><keyword><style  face="normal" font="default" size="100%">Cross-Linking Reagents</style></keyword><keyword><style  face="normal" font="default" size="100%">Cytoskeleton</style></keyword><keyword><style  face="normal" font="default" size="100%">Dendrites</style></keyword><keyword><style  face="normal" font="default" size="100%">Exons</style></keyword><keyword><style  face="normal" font="default" size="100%">Immunoprecipitation</style></keyword><keyword><style  face="normal" font="default" size="100%">Lipoylation</style></keyword><keyword><style  face="normal" font="default" size="100%">Mice</style></keyword><keyword><style  face="normal" font="default" size="100%">Mice, Transgenic</style></keyword><keyword><style  face="normal" font="default" size="100%">Motor Neurons</style></keyword><keyword><style  face="normal" font="default" size="100%">Nerve Tissue Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">NIH 3T3 Cells</style></keyword><keyword><style  face="normal" font="default" size="100%">Pseudopodia</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA-Binding Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Septins</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcriptome</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 08 15</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">19</style></volume><pages><style face="normal" font="default" size="100%">117</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;BACKGROUND: &lt;/b&gt;Alternative RNA processing plays an essential role in shaping cell identity and connectivity in the central nervous system. This is believed to involve differential regulation of RNA processing in various cell types. However, in vivo study of cell type-specific post-transcriptional regulation has been a challenge. Here, we describe a sensitive and stringent method combining genetics and CLIP (crosslinking and immunoprecipitation) to globally identify regulatory interactions between NOVA and RNA in the mouse spinal cord motoneurons.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;We developed a means of undertaking motoneuron-specific CLIP to explore motoneuron-specific protein-RNA interactions relative to studies of the whole spinal cord in mouse. This allowed us to pinpoint differential RNA regulation specific to motoneurons, revealing a major role for NOVA in regulating cytoskeleton interactions in motoneurons. In particular, NOVA specifically promotes the palmitoylated isoform of the cytoskeleton protein Septin 8 in motoneurons, which enhances dendritic arborization.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;Our study demonstrates that cell type-specific RNA regulation is important for fine tuning motoneuron physiology and highlights the value of defining RNA processing regulation at single cell type resolution.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/30111345?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Hwang, Hun-Way</style></author><author><style face="normal" font="default" size="100%">Saito, Yuhki</style></author><author><style face="normal" font="default" size="100%">Park, Christopher Y</style></author><author><style face="normal" font="default" size="100%">Blachère, Nathalie E</style></author><author><style face="normal" font="default" size="100%">Tajima, Yoko</style></author><author><style face="normal" font="default" size="100%">Fak, John J</style></author><author><style face="normal" font="default" size="100%">Zucker-Scharff, Ilana</style></author><author><style face="normal" font="default" size="100%">Darnell, Robert B</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">cTag-PAPERCLIP Reveals Alternative Polyadenylation Promotes Cell-Type Specific Protein Diversity and Shifts Araf Isoforms with Microglia Activation.</style></title><secondary-title><style face="normal" font="default" size="100%">Neuron</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Neuron</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Antigens, Neoplasm</style></keyword><keyword><style  face="normal" font="default" size="100%">Astrocytes</style></keyword><keyword><style  face="normal" font="default" size="100%">Brain</style></keyword><keyword><style  face="normal" font="default" size="100%">Cells, Cultured</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mice</style></keyword><keyword><style  face="normal" font="default" size="100%">Microglia</style></keyword><keyword><style  face="normal" font="default" size="100%">Nerve Tissue Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Neuro-Oncological Ventral Antigen</style></keyword><keyword><style  face="normal" font="default" size="100%">Neurons</style></keyword><keyword><style  face="normal" font="default" size="100%">Organ Specificity</style></keyword><keyword><style  face="normal" font="default" size="100%">Polyadenylation</style></keyword><keyword><style  face="normal" font="default" size="100%">Polypyrimidine Tract-Binding Protein</style></keyword><keyword><style  face="normal" font="default" size="100%">Protein Isoforms</style></keyword><keyword><style  face="normal" font="default" size="100%">Protein Serine-Threonine Kinases</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA-Binding Proteins</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Sep 13</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">95</style></volume><pages><style face="normal" font="default" size="100%">1334-1349.e5</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Alternative polyadenylation (APA) is increasingly recognized to regulate gene expression across different cell types, but obtaining APA maps from individual cell types typically requires prior purification, a stressful procedure that can itself alter cellular states. Here, we describe a new platform, cTag-PAPERCLIP, that generates APA profiles from single cell populations in intact tissues; cTag-PAPERCLIP requires no tissue dissociation and preserves transcripts in native states. Applying cTag-PAPERCLIP to profile four major cell types in the mouse brain revealed common APA preferences between excitatory and inhibitory neurons distinct from astrocytes and microglia, regulated in part by neuron-specific RNA-binding proteins NOVA2 and PTBP2. We further identified a role of APA in switching Araf protein isoforms during microglia activation, impacting production of downstream inflammatory cytokines. Our results demonstrate the broad applicability of cTag-PAPERCLIP and a previously undiscovered role of APA in contributing to protein diversity between different cell types and cellular states within the brain.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/28910620?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Lu, Hsiang-Chih</style></author><author><style face="normal" font="default" size="100%">Tan, Qiumin</style></author><author><style face="normal" font="default" size="100%">Rousseaux, Maxime W C</style></author><author><style face="normal" font="default" size="100%">Wang, Wei</style></author><author><style face="normal" font="default" size="100%">Kim, Ji-Yoen</style></author><author><style face="normal" font="default" size="100%">Richman, Ronald</style></author><author><style face="normal" font="default" size="100%">Wan, Ying-Wooi</style></author><author><style face="normal" font="default" size="100%">Yeh, Szu-Ying</style></author><author><style face="normal" font="default" size="100%">Patel, Jay M</style></author><author><style face="normal" font="default" size="100%">Liu, Xiuyun</style></author><author><style face="normal" font="default" size="100%">Lin, Tao</style></author><author><style face="normal" font="default" size="100%">Lee, Yoontae</style></author><author><style face="normal" font="default" size="100%">Fryer, John D</style></author><author><style face="normal" font="default" size="100%">Han, Jing</style></author><author><style face="normal" font="default" size="100%">Chahrour, Maria</style></author><author><style face="normal" font="default" size="100%">Finnell, Richard H</style></author><author><style face="normal" font="default" size="100%">Lei, Yunping</style></author><author><style face="normal" font="default" size="100%">Zurita-Jimenez, Maria E</style></author><author><style face="normal" font="default" size="100%">Ahimaz, Priyanka</style></author><author><style face="normal" font="default" size="100%">Anyane-Yeboa, Kwame</style></author><author><style face="normal" font="default" size="100%">Van Maldergem, Lionel</style></author><author><style face="normal" font="default" size="100%">Lehalle, Daphne</style></author><author><style face="normal" font="default" size="100%">Jean-Marcais, Nolwenn</style></author><author><style face="normal" font="default" size="100%">Mosca-Boidron, Anne-Laure</style></author><author><style face="normal" font="default" size="100%">Thevenon, Julien</style></author><author><style face="normal" font="default" size="100%">Cousin, Margot A</style></author><author><style face="normal" font="default" size="100%">Bro, Della E</style></author><author><style face="normal" font="default" size="100%">Lanpher, Brendan C</style></author><author><style face="normal" font="default" size="100%">Klee, Eric W</style></author><author><style face="normal" font="default" size="100%">Alexander, Nora</style></author><author><style face="normal" font="default" size="100%">Bainbridge, Matthew N</style></author><author><style face="normal" font="default" size="100%">Orr, Harry T</style></author><author><style face="normal" font="default" size="100%">Sillitoe, Roy V</style></author><author><style face="normal" font="default" size="100%">Ljungberg, M Cecilia</style></author><author><style face="normal" font="default" size="100%">Liu, Zhandong</style></author><author><style face="normal" font="default" size="100%">Schaaf, Christian P</style></author><author><style face="normal" font="default" size="100%">Zoghbi, Huda Y</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.</style></title><secondary-title><style face="normal" font="default" size="100%">Nat Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nat Genet</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Ataxin-1</style></keyword><keyword><style  face="normal" font="default" size="100%">Autism Spectrum Disorder</style></keyword><keyword><style  face="normal" font="default" size="100%">Cerebellum</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Intellectual Disability</style></keyword><keyword><style  face="normal" font="default" size="100%">Interpersonal Relations</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mice</style></keyword><keyword><style  face="normal" font="default" size="100%">Nerve Tissue Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Neurodegenerative Diseases</style></keyword><keyword><style  face="normal" font="default" size="100%">Nuclear Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Phenotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Repressor Proteins</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Apr</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">49</style></volume><pages><style face="normal" font="default" size="100%">527-536</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Gain-of-function mutations in some genes underlie neurodegenerative conditions, whereas loss-of-function mutations in the same genes have distinct phenotypes. This appears to be the case with the protein ataxin 1 (ATXN1), which forms a transcriptional repressor complex with capicua (CIC). Gain of function of the complex leads to neurodegeneration, but ATXN1-CIC is also essential for survival. We set out to understand the functions of the ATXN1-CIC complex in the developing forebrain and found that losing this complex results in hyperactivity, impaired learning and memory, and abnormal maturation and maintenance of upper-layer cortical neurons. We also found that CIC activity in the hypothalamus and medial amygdala modulates social interactions. Informed by these neurobehavioral features in mouse mutants, we identified five individuals with de novo heterozygous truncating mutations in CIC who share similar clinical features, including intellectual disability, attention deficit/hyperactivity disorder (ADHD), and autism spectrum disorder. Our study demonstrates that loss of ATXN1-CIC complexes causes a spectrum of neurobehavioral phenotypes.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">4</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/28288114?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Turner, Tychele N</style></author><author><style face="normal" font="default" size="100%">Coe, Bradley P</style></author><author><style face="normal" font="default" size="100%">Dickel, Diane E</style></author><author><style face="normal" font="default" size="100%">Hoekzema, Kendra</style></author><author><style face="normal" font="default" size="100%">Nelson, Bradley J</style></author><author><style face="normal" font="default" size="100%">Zody, Michael C</style></author><author><style face="normal" font="default" size="100%">Kronenberg, Zev N</style></author><author><style face="normal" font="default" size="100%">Hormozdiari, Fereydoun</style></author><author><style face="normal" font="default" size="100%">Raja, Archana</style></author><author><style face="normal" font="default" size="100%">Pennacchio, Len A</style></author><author><style face="normal" font="default" size="100%">Darnell, Robert B</style></author><author><style face="normal" font="default" size="100%">Eichler, Evan E</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Genomic Patterns of De Novo Mutation in Simplex Autism.</style></title><secondary-title><style face="normal" font="default" size="100%">Cell</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Cell</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Autistic Disorder</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Copy Number Variations</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Mutational Analysis</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">INDEL Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mice</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Oct 19</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">171</style></volume><pages><style face="normal" font="default" size="100%">710-722.e12</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;To further our understanding of the genetic etiology of autism, we generated and analyzed genome sequence data from 516 idiopathic autism families (2,064 individuals). This resource includes &gt;59 million single-nucleotide variants (SNVs) and 9,212 private copy number variants (CNVs), of which 133,992 and 88 are de novo mutations (DNMs), respectively. We estimate a mutation rate of ∼1.5 × 10 SNVs per site per generation with a significantly higher mutation rate in repetitive DNA. Comparing probands and unaffected siblings, we observe several DNM trends. Probands carry more gene-disruptive CNVs and SNVs, resulting in severe missense mutations and mapping to predicted fetal brain promoters and embryonic stem cell enhancers. These differences become more pronounced for autism genes (p = 1.8 × 10, OR = 2.2). Patients are more likely to carry multiple coding and noncoding DNMs in different genes, which are enriched for expression in striatal neurons (p = 3 × 10), suggesting a path forward for genetically characterizing more complex cases of autism.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">3</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/28965761?dopt=Abstract</style></custom1></record></records></xml>