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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5890
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pubmed:dateCreated |
2008-8-8
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pubmed:databankReference |
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pubmed:abstractText |
Duane's retraction syndrome (DRS) is a complex congenital eye movement disorder caused by aberrant innervation of the extraocular muscles by axons of brainstem motor neurons. Studying families with a variant form of the disorder (DURS2-DRS), we have identified causative heterozygous missense mutations in CHN1, a gene on chromosome 2q31 that encodes alpha2-chimaerin, a Rac guanosine triphosphatase-activating protein (RacGAP) signaling protein previously implicated in the pathfinding of corticospinal axons in mice. We found that these are gain-of-function mutations that increase alpha2-chimaerin RacGAP activity in vitro. Several of the mutations appeared to enhance alpha2-chimaerin translocation to the cell membrane or enhance its ability to self-associate. Expression of mutant alpha2-chimaerin constructs in chick embryos resulted in failure of oculomotor axons to innervate their target extraocular muscles. We conclude that alpha2-chimaerin has a critical developmental function in ocular motor axon pathfinding.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-10577917,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-10711888,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-10942112,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-11438594,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-11972963,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-12177379,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-15065126,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-15483118,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-15507211,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-15848799,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-16221859,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-16446429,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-17197532,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-17197533,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-17494698,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-17502461,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-17719550,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-17785174,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-17785182,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-17785183,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-17911252,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-17948031,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-7115176,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-7378011,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-7867622,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18653847-8336731
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1095-9203
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pubmed:author |
pubmed-author:AllenJamesJ,
pubmed-author:AndrewsCarolineC,
pubmed-author:AppukuttanBinoyB,
pubmed-author:BaldiAlfonsoA,
pubmed-author:CampioniMaraM,
pubmed-author:ChanWai-ManWM,
pubmed-author:CheungMichelleM,
pubmed-author:ChiltonJohnJ,
pubmed-author:ChristiansenStephenS,
pubmed-author:CiccarelliMaria LauraML,
pubmed-author:CrosierMoiraM,
pubmed-author:DavenportDominicD,
pubmed-author:EllardSianS,
pubmed-author:EngleElizabeth CEC,
pubmed-author:GuthrieSarahS,
pubmed-author:GutowskiNick JNJ,
pubmed-author:IannacconeAlessandroA,
pubmed-author:LawKrystalK,
pubmed-author:LindsaySusanS,
pubmed-author:LongChengC,
pubmed-author:MarianiLaura ELE,
pubmed-author:MiyakeNorikoN,
pubmed-author:PsathaMariaM,
pubmed-author:SahinMustafaM,
pubmed-author:StoutJ TimothyJT,
pubmed-author:YoungElizabethE,
pubmed-author:ZentenoJuan CJC
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pubmed:issnType |
Electronic
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pubmed:day |
8
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pubmed:volume |
321
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
839-43
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pubmed:dateRevised |
2010-12-3
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pubmed:meshHeading |
pubmed-meshheading:18653847-Humans,
pubmed-meshheading:18653847-Animals,
pubmed-meshheading:18653847-Abducens Nerve,
pubmed-meshheading:18653847-Oculomotor Muscles,
pubmed-meshheading:18653847-Female,
pubmed-meshheading:18653847-Male,
pubmed-meshheading:18653847-Chick Embryo,
pubmed-meshheading:18653847-Oculomotor Nerve,
pubmed-meshheading:18653847-Axons,
pubmed-meshheading:18653847-Cell Membrane,
pubmed-meshheading:18653847-Pedigree,
pubmed-meshheading:18653847-Amino Acid Sequence,
pubmed-meshheading:18653847-Heterozygote
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