<?xml version="1.0" encoding="UTF-8"?><xmi:XMI xmlns:pos="http:///org/u_compare/shared/label/penn/pos.ecore" xmlns:grammatical="http:///org/u_compare/shared/label/penn/function/grammatical.ecore" xmlns:general="http:///org/u_compare/shared/label/penn/pos/general.ecore" xmlns:cas="http:///uima/cas.ecore" xmlns:stanford="http:///org/u_compare/shared/label/stanford.ecore" xmlns:semantic2="http:///uk/ac/nactem/semantic.ecore" xmlns:bioie="http:///org/u_compare/shared/label/penn/pos/bioie.ecore" xmlns:function="http:///org/u_compare/shared/label/penn/function.ecore" xmlns:tcas="http:///uima/tcas.ecore" xmlns:bio="http:///org/u_compare/shared/semantic/bio.ecore" xmlns:syntactic="http:///org/u_compare/shared/syntactic.ecore" xmlns:comparable="http:///org/u_compare/shared/comparable.ecore" xmlns:examples="http:///org/apache/uima/examples.ecore" xmlns:label="http:///org/u_compare/shared/label.ecore" xmlns:xmi="http://www.omg.org/XMI" xmlns:general2="http:///org/u_compare/shared/label/penn/bracket/general.ecore" xmlns:shared="http:///org/u_compare/shared.ecore" xmlns:fragment="http:///org/u_compare/shared/document/fragment.ecore" xmlns:document="http:///org/u_compare/shared/document.ecore" xmlns:bracket="http:///org/u_compare/shared/label/penn/bracket.ecore" xmlns:text="http:///org/u_compare/shared/label/penn/function/text.ecore" xmlns:structure="http:///org/u_compare/shared/document/structure.ecore" xmlns:text2="http:///org/u_compare/shared/document/text.ecore" xmlns:release="http:///org/u_compare/shared/label/penn/pos/release.ecore" xmlns:semantic="http:///org/u_compare/shared/semantic.ecore" xmlns:nontext="http:///org/u_compare/shared/document/nontext.ecore" xmlns:conll="http:///org/u_compare/shared/label/conll.ecore" xmlns:chemical="http:///org/u_compare/shared/semantic/chemical.ecore" xmlns:semantic3="http:///org/u_compare/shared/label/penn/function/semantic.ecore" xmlns:release2="http:///org/u_compare/shared/label/penn/bracket/release.ecore" xmlns:coindex="http:///org/u_compare/shared/label/penn/coindex.ecore" xmi:version="2.0"><cas:NULL xmi:id="0"/><cas:Sofa xmi:id="1" sofaNum="1" sofaID="_InitialView" mimeType="text" sofaString="A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. &#10;Spinal muscular atrophy (SMA) is a common motor neuron degenerative disease that results from reduced levels of, or mutations in, the Survival of Motor Neurons (SMN) protein. SMN is found in the cytoplasm and the nucleus where it is concentrated in gems. SMN interacts with spliceosomal snRNP proteins and is critical for snRNP assembly in the cytoplasm. We show that a dominant-negative mutant SMN (SMNdeltaN27) causes a dramatic reorganization of snRNPs in the nucleus. Furthermore, SMNdeltaN27 inhibits pre-mRNA splicing in vitro, while wild-type SMN stimulates splicing. SMN mutants found in SMA patients cannot stimulate splicing. These findings demonstrate that SMN plays a crucial role in the generation of the pre-mRNA splicing machinery and thus in mRNA biogenesis, and they link the function of SMN in this pathway to SMA. "/><cas:FSArray xmi:id="331" elements="335 346"/><cas:FSArray xmi:id="338" elements="37 44 54"/><cas:FSArray xmi:id="349" elements="26"/><cas:FSArray xmi:id="355" elements="359 368"/><cas:FSArray xmi:id="362" elements="72"/><cas:FSArray xmi:id="371" elements="83"/><cas:FSArray xmi:id="377" elements="382 391 400"/><cas:FSArray xmi:id="385" elements="94"/><cas:FSArray xmi:id="394" elements="104"/><cas:FSArray xmi:id="403" elements="122"/><cas:FSArray xmi:id="409" elements="414 423 432"/><cas:FSArray xmi:id="417" elements="140"/><cas:FSArray xmi:id="426" elements="150"/><cas:FSArray xmi:id="435" elements="157"/><cas:FSArray xmi:id="441" elements="445 454"/><cas:FSArray xmi:id="448" elements="164"/><cas:FSArray xmi:id="457" elements="175"/><cas:FSArray xmi:id="463" elements="468 477 486"/><cas:FSArray xmi:id="471" elements="182"/><cas:FSArray xmi:id="480" elements="210"/><cas:FSArray xmi:id="489" elements="192"/><cas:FSArray xmi:id="498" elements="0 26 37 44 54 61 72 83 94 104 111 122 129 140 150 157 164 175 182 192 199 210 0 0 0 0 0 0"/><tcas:DocumentAnnotation xmi:id="8" sofa="1" begin="0" end="932" language="x-unspecified"/><tcas:DocumentAnnotation xmi:id="21" sofa="1" begin="0" end="932"/><examples:SourceDocumentInformation xmi:id="13" sofa="1" begin="0" end="932" uri="/9845364.txt" offsetInSource="0" documentSize="932" lastSegment="true"/><semantic:LinkedAnnotationSet xmi:id="335" linkingRelation="343" linkedAnnotations="338"/><semantic:LinkedAnnotationSet xmi:id="346" linkingRelation="352" linkedAnnotations="349"/><semantic:LinkedAnnotationSet xmi:id="359" linkingRelation="365" linkedAnnotations="362"/><semantic:LinkedAnnotationSet xmi:id="368" linkingRelation="374" linkedAnnotations="371"/><semantic:LinkedAnnotationSet xmi:id="382" linkingRelation="388" linkedAnnotations="385"/><semantic:LinkedAnnotationSet xmi:id="391" linkingRelation="397" linkedAnnotations="394"/><semantic:LinkedAnnotationSet xmi:id="400" linkingRelation="406" linkedAnnotations="403"/><semantic:LinkedAnnotationSet xmi:id="414" linkingRelation="420" linkedAnnotations="417"/><semantic:LinkedAnnotationSet xmi:id="423" linkingRelation="429" linkedAnnotations="426"/><semantic:LinkedAnnotationSet xmi:id="432" linkingRelation="438" linkedAnnotations="435"/><semantic:LinkedAnnotationSet xmi:id="445" linkingRelation="451" linkedAnnotations="448"/><semantic:LinkedAnnotationSet xmi:id="454" linkingRelation="460" linkedAnnotations="457"/><semantic:LinkedAnnotationSet xmi:id="468" linkingRelation="474" linkedAnnotations="471"/><semantic:LinkedAnnotationSet xmi:id="477" linkingRelation="483" linkedAnnotations="480"/><semantic:LinkedAnnotationSet xmi:id="486" linkingRelation="492" linkedAnnotations="489"/><shared:ExternalReference xmi:id="34" namespace="GREC Concepts" ID="Mutant_Organism"/><shared:ExternalReference xmi:id="51" namespace="GREC Concepts" ID="Mutation"/><shared:ExternalReference xmi:id="69" namespace="GREC Concepts" ID="Protein"/><shared:ExternalReference xmi:id="80" namespace="GREC Concepts" ID="Protein"/><shared:ExternalReference xmi:id="91" namespace="GREC Concepts" ID="Protein_Complex"/><shared:ExternalReference xmi:id="101" namespace="GREC Concepts" ID="Mutation"/><shared:ExternalReference xmi:id="119" namespace="GREC Concepts" ID="Protein_Complex"/><shared:ExternalReference xmi:id="137" namespace="GREC Concepts" ID="Organelles"/><shared:ExternalReference xmi:id="147" namespace="GREC Concepts" ID="Mutation"/><shared:ExternalReference xmi:id="172" namespace="GREC Concepts" ID="Protein"/><shared:ExternalReference xmi:id="189" namespace="GREC Concepts" ID="Mutation"/><shared:ExternalReference xmi:id="207" namespace="GREC Concepts" ID="Organism"/><shared:ExternalReference xmi:id="273" namespace="GREC" ID="GRE"/><shared:ExternalReference xmi:id="284" namespace="GREC" ID="GRE"/><shared:ExternalReference xmi:id="295" namespace="GREC" ID="GRE"/><shared:ExternalReference xmi:id="306" namespace="GREC" ID="GRE"/><shared:ExternalReference xmi:id="317" namespace="GREC" ID="GRE"/><shared:ExternalReference xmi:id="328" namespace="GREC" ID="GRE"/><shared:ExternalReference xmi:id="343" namespace="GREC Concepts" ID="Theme"/><shared:ExternalReference xmi:id="352" namespace="GREC Concepts" ID="Descriptive-Theme"/><shared:ExternalReference xmi:id="365" namespace="GREC Concepts" ID="Theme"/><shared:ExternalReference xmi:id="374" namespace="GREC Concepts" ID="Theme"/><shared:ExternalReference xmi:id="388" namespace="GREC Concepts" ID="Agent"/><shared:ExternalReference xmi:id="397" namespace="GREC Concepts" ID="Theme"/><shared:ExternalReference xmi:id="406" namespace="GREC Concepts" ID="Location"/><shared:ExternalReference xmi:id="420" namespace="GREC Concepts" ID="Agent"/><shared:ExternalReference xmi:id="429" namespace="GREC Concepts" ID="Theme"/><shared:ExternalReference xmi:id="438" namespace="GREC Concepts" ID="Condition"/><shared:ExternalReference xmi:id="451" namespace="GREC Concepts" ID="Agent"/><shared:ExternalReference xmi:id="460" namespace="GREC Concepts" ID="Theme"/><shared:ExternalReference xmi:id="474" namespace="GREC Concepts" ID="Agent"/><shared:ExternalReference xmi:id="483" namespace="GREC Concepts" ID="Theme"/><shared:ExternalReference xmi:id="492" namespace="GREC Concepts" ID="Location"/><semantic:EventAnnotation xmi:id="265" sofa="1" begin="180" end="187" externalReference="273" linkedAnnotationSets="331"/><semantic:EventAnnotation xmi:id="276" sofa="1" begin="358" end="367" externalReference="284" linkedAnnotationSets="355"/><semantic:EventAnnotation xmi:id="287" sofa="1" begin="512" end="518" externalReference="295" linkedAnnotationSets="377"/><semantic:EventAnnotation xmi:id="298" sofa="1" begin="596" end="604" externalReference="306" linkedAnnotationSets="409"/><semantic:EventAnnotation xmi:id="309" sofa="1" begin="653" end="663" externalReference="317" linkedAnnotationSets="441"/><semantic:EventAnnotation xmi:id="320" sofa="1" begin="715" end="724" externalReference="328" linkedAnnotationSets="463"/><comparable:IDArray xmi:id="495" array="498" idType="t"/><semantic2:Proteins xmi:id="61" sofa="1" begin="245" end="258" externalReference="69"/><semantic2:Proteins xmi:id="72" sofa="1" begin="354" end="357" externalReference="80"/><semantic2:Proteins xmi:id="83" sofa="1" begin="373" end="400" externalReference="91"/><semantic2:Proteins xmi:id="111" sofa="1" begin="548" end="554" externalReference="119"/><semantic2:Proteins xmi:id="164" sofa="1" begin="639" end="652" externalReference="172"/><semantic2:LivingSystems xmi:id="26" sofa="1" begin="124" end="127" externalReference="34"/><semantic2:LivingSystems xmi:id="129" sofa="1" begin="558" end="569" externalReference="137"/><semantic2:LivingSystems xmi:id="199" sofa="1" begin="695" end="707" externalReference="207"/><semantic2:Processes xmi:id="44" sofa="1" begin="215" end="224" externalReference="51"/><semantic2:Processes xmi:id="94" sofa="1" begin="499" end="510" externalReference="101"/><semantic2:Processes xmi:id="140" sofa="1" begin="584" end="595" externalReference="147"/><semantic2:Processes xmi:id="182" sofa="1" begin="674" end="685" externalReference="189"/><semantic2:EventArgumentSpan xmi:id="37" sofa="1" begin="193" end="207"/><semantic2:EventArgumentSpan xmi:id="54" sofa="1" begin="225" end="272"/><semantic2:EventArgumentSpan xmi:id="104" sofa="1" begin="519" end="554"/><semantic2:EventArgumentSpan xmi:id="122" sofa="1" begin="555" end="569"/><semantic2:EventArgumentSpan xmi:id="150" sofa="1" begin="605" end="622"/><semantic2:EventArgumentSpan xmi:id="157" sofa="1" begin="623" end="631"/><semantic2:EventArgumentSpan xmi:id="175" sofa="1" begin="664" end="672"/><semantic2:EventArgumentSpan xmi:id="192" sofa="1" begin="692" end="707"/><semantic2:EventArgumentSpan xmi:id="210" sofa="1" begin="725" end="733"/><cas:View sofa="1" members="331 338 349 355 362 371 377 385 394 403 409 417 426 435 441 448 457 463 471 480 489 498 8 21 13 335 346 359 368 382 391 400 414 423 432 445 454 468 477 486 34 51 69 80 91 101 119 137 147 172 189 207 273 284 295 306 317 328 343 352 365 374 388 397 406 420 429 438 451 460 474 483 492 265 276 287 298 309 320 495 61 72 83 111 164 26 129 199 44 94 140 182 37 54 104 122 150 157 175 192 210"/></xmi:XMI>