GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling
Identifieur interne : 000807 ( Main/Corpus ); précédent : 000806; suivant : 000808GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling
Auteurs : Barbara Giovannone ; William G. Tsiaras ; Suzanne De La Monte ; Jan Klysik ; Corinne Lautier ; Galina Karashchuk ; Stefano Goldwurm ; Robert J. SmithSource :
- Human Molecular Genetics [ 0964-6906 ] ; 2009-12-01.
Abstract
Grb10-Interacting GYF Protein 2 (GIGYF2) was initially identified through its interaction with Grb10, an adapter protein that binds activated IGF-I and insulin receptors. The GIGYF2 gene maps to human chromosome 2q37 within a region linked to familial Parkinson's disease (PARK11 locus), and association of GIGYF2 mutations with Parkinson's disease has been described in some but not other recent publications. This study investigated the consequences of Gigyf2 gene disruption in mice. Gigyf2 null mice undergo apparently normal embryonic development, but fail to feed and die within the first 2 post-natal days. Heterozygous Gigyf2/ mice survive to adulthood with no evident metabolic or growth defects. At 1215 months of age, the Gigyf2/ mice begin to exhibit motor dysfunction manifested as decreased balance time on a rotating horizontal rod. This is associated with histopathological evidence of neurodegeneration and rare intracytoplasmic Lewy body-like inclusions in spinal anterior horn motor neurons. There are -synuclein positive neuritic plaques in the brainstem and cerebellum, but no abnormalities in the substantia nigra. Primary cultured embryo fibroblasts from Gigyf2 null mice exhibit decreased IGF-I-stimulated IGF-I receptor tyrosine phosphorylation and augmented ERK1/2 phosphorylation. These data provide further evidence for an important role of GIGYF2 in age-related neurodegeneration and IGF pathway signaling.
Url:
DOI: 10.1093/hmg/ddp430
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Tsiaras</name><affiliation><mods:affiliation></mods:affiliation></affiliation></author><author><name sortKey="De La Monte, Suzanne" sort="De La Monte, Suzanne" uniqKey="De La Monte S" first="Suzanne" last="De La Monte">Suzanne De La Monte</name><affiliation><mods:affiliation>903, USA,</mods:affiliation></affiliation></author><author><name sortKey="Klysik, Jan" sort="Klysik, Jan" uniqKey="Klysik J" first="Jan" last="Klysik">Jan Klysik</name><affiliation><mods:affiliation></mods:affiliation></affiliation></author><author><name sortKey="Lautier, Corinne" sort="Lautier, Corinne" uniqKey="Lautier C" first="Corinne" last="Lautier">Corinne Lautier</name><affiliation><mods:affiliation></mods:affiliation></affiliation></author><author><name sortKey="Karashchuk, Galina" sort="Karashchuk, Galina" uniqKey="Karashchuk G" first="Galina" last="Karashchuk">Galina Karashchuk</name><affiliation><mods:affiliation></mods:affiliation></affiliation></author><author><name sortKey="Goldwurm, Stefano" sort="Goldwurm, Stefano" uniqKey="Goldwurm S" first="Stefano" last="Goldwurm">Stefano Goldwurm</name><affiliation><mods:affiliation></mods:affiliation></affiliation></author><author><name sortKey="Smith, Robert J" sort="Smith, Robert J" uniqKey="Smith R" first="Robert J." last="Smith">Robert J. 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Smith</name><affiliation><mods:affiliation></mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: rsmith4@lifespan.org</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="2009-12-01">2009-12-01</date><biblScope unit="volume">18</biblScope><biblScope unit="issue">23</biblScope><biblScope unit="page" from="4629">4629</biblScope><biblScope unit="page" to="4639">4639</biblScope></imprint><idno type="ISSN">0964-6906</idno></series><idno type="istex">CC2507EC1926A075621F40EC5709A68C8E18DB00</idno><idno type="DOI">10.1093/hmg/ddp430</idno><idno type="ArticleID">ddp430</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Grb10-Interacting GYF Protein 2 (GIGYF2) was initially identified through its interaction with Grb10, an adapter protein that binds activated IGF-I and insulin receptors. The GIGYF2 gene maps to human chromosome 2q37 within a region linked to familial Parkinson's disease (PARK11 locus), and association of GIGYF2 mutations with Parkinson's disease has been described in some but not other recent publications. This study investigated the consequences of Gigyf2 gene disruption in mice. Gigyf2 null mice undergo apparently normal embryonic development, but fail to feed and die within the first 2 post-natal days. Heterozygous Gigyf2/ mice survive to adulthood with no evident metabolic or growth defects. At 1215 months of age, the Gigyf2/ mice begin to exhibit motor dysfunction manifested as decreased balance time on a rotating horizontal rod. This is associated with histopathological evidence of neurodegeneration and rare intracytoplasmic Lewy body-like inclusions in spinal anterior horn motor neurons. There are -synuclein positive neuritic plaques in the brainstem and cerebellum, but no abnormalities in the substantia nigra. Primary cultured embryo fibroblasts from Gigyf2 null mice exhibit decreased IGF-I-stimulated IGF-I receptor tyrosine phosphorylation and augmented ERK1/2 phosphorylation. These data provide further evidence for an important role of GIGYF2 in age-related neurodegeneration and IGF pathway signaling.</div></front></TEI><istex><corpusName>oup</corpusName><author><json:item><name>Barbara Giovannone</name><affiliations><json:string>Division of Endocrinology and</json:string></affiliations></json:item><json:item><name>William G. Tsiaras</name><affiliations><json:string>Division of Endocrinology and</json:string></affiliations></json:item><json:item><name>Suzanne de la Monte</name><affiliations><json:string>Liver Research Center, Rhode Island Hospital, Alpert Medical School of Brown University, Providence, RI 02903, USA,</json:string></affiliations></json:item><json:item><name>Jan Klysik</name><affiliations><json:string>Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA and</json:string></affiliations></json:item><json:item><name>Corinne Lautier</name><affiliations><json:string>Division of Endocrinology and</json:string></affiliations></json:item><json:item><name>Galina Karashchuk</name><affiliations><json:string>Division of Endocrinology and</json:string></affiliations></json:item><json:item><name>Stefano Goldwurm</name><affiliations><json:string>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan 20126, Italy</json:string></affiliations></json:item><json:item><name>Robert J. 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Heterozygous Gigyf2/ mice survive to adulthood with no evident metabolic or growth defects. At 1215 months of age, the Gigyf2/ mice begin to exhibit motor dysfunction manifested as decreased balance time on a rotating horizontal rod. This is associated with histopathological evidence of neurodegeneration and rare intracytoplasmic Lewy body-like inclusions in spinal anterior horn motor neurons. There are -synuclein positive neuritic plaques in the brainstem and cerebellum, but no abnormalities in the substantia nigra. Primary cultured embryo fibroblasts from Gigyf2 null mice exhibit decreased IGF-I-stimulated IGF-I receptor tyrosine phosphorylation and augmented ERK1/2 phosphorylation. 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The GIGYF2 gene maps to human chromosome 2q37 within a region linked to familial Parkinson's disease (PARK11 locus), and association of GIGYF2 mutations with Parkinson's disease has been described in some but not other recent publications. This study investigated the consequences of Gigyf2 gene disruption in mice. Gigyf2 null mice undergo apparently normal embryonic development, but fail to feed and die within the first 2 post-natal days. Heterozygous Gigyf2/ mice survive to adulthood with no evident metabolic or growth defects. At 1215 months of age, the Gigyf2/ mice begin to exhibit motor dysfunction manifested as decreased balance time on a rotating horizontal rod. This is associated with histopathological evidence of neurodegeneration and rare intracytoplasmic Lewy body-like inclusions in spinal anterior horn motor neurons. There are -synuclein positive neuritic plaques in the brainstem and cerebellum, but no abnormalities in the substantia nigra. Primary cultured embryo fibroblasts from Gigyf2 null mice exhibit decreased IGF-I-stimulated IGF-I receptor tyrosine phosphorylation and augmented ERK1/2 phosphorylation. These data provide further evidence for an important role of GIGYF2 in age-related neurodegeneration and IGF pathway signaling.</p></abstract></profileDesc><revisionDesc><change when="2009-09-10">Created</change><change when="2009-12-01">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2016-3-15">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/CC2507EC1926A075621F40EC5709A68C8E18DB00/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus oup" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Publishing DTD v2.3 20070202//EN" URI="journalpublishing.dtd" name="istex:docType"></istex:docType><istex:document><article article-type="research-article"><front><journal-meta><journal-id journal-id-type="publisher-id">hmg</journal-id><journal-id journal-id-type="hwp">hmg</journal-id><journal-title>Human Molecular Genetics</journal-title><issn pub-type="ppub">0964-6906</issn><issn pub-type="epub">1460-2083</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.1093/hmg/ddp430</article-id><article-id pub-id-type="publisher-id">ddp430</article-id><article-categories><subj-group subj-group-type="heading"><subject>ARTICLES</subject></subj-group></article-categories><title-group><article-title><italic>GIGYF2</italic> gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Giovannone</surname><given-names>Barbara</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><contrib contrib-type="author"><name><surname>Tsiaras</surname><given-names>William G.</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><contrib contrib-type="author"><name><surname>de la Monte</surname><given-names>Suzanne</given-names></name><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Klysik</surname><given-names>Jan</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Lautier</surname><given-names>Corinne</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="fn" rid="FN1">†</xref></contrib><contrib contrib-type="author"><name><surname>Karashchuk</surname><given-names>Galina</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><contrib contrib-type="author"><name><surname>Goldwurm</surname><given-names>Stefano</given-names></name><xref ref-type="aff" rid="af4">4</xref></contrib><contrib contrib-type="author"><name><surname>Smith</surname><given-names>Robert J.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib></contrib-group><aff id="af1"><label>1</label><addr-line>Division of Endocrinology</addr-line> and</aff><aff id="af2"><label>2</label><addr-line>Liver Research Center</addr-line>, <institution>Rhode Island Hospital, Alpert Medical School of Brown University</institution>, <addr-line>Providence, RI 02903</addr-line>, <country>USA</country>,</aff><aff id="af3"><label>3</label><addr-line>Department of Molecular Biology</addr-line>, <institution>Cell Biology and Biochemistry, Brown University</institution>, <addr-line>Providence, RI 02912</addr-line>, <country>USA</country> and</aff><aff id="af4"><label>4</label><institution>Parkinson Institute, Istituti Clinici di Perfezionamento</institution>, <addr-line>Milan 20126</addr-line>, <country>Italy</country></aff><author-notes><corresp id="cor1"><label>*</label>To whom correspondence should be addressed at: <addr-line>Division of Endocrinology</addr-line>, <institution>Rhode Island Hospital</institution>, <addr-line>One Hoppin Street, Suite 200, Providence, RI 02903</addr-line>, <country>USA</country>. Tel: <phone>+1 4014443420</phone>; Fax: <fax>+1 4014444921</fax>; Email: <email>rsmith4@lifespan.org</email></corresp><fn id="FN1"><label>†</label><p>Present address: Universite Montpellier II, Montpellier, France.</p></fn></author-notes><pub-date pub-type="ppub"><day>1</day><month>12</month><year>2009</year></pub-date><pub-date pub-type="epub"><day>10</day><month>9</month><year>2009</year></pub-date><volume>18</volume><issue>23</issue><fpage>4629</fpage><lpage>4639</lpage><history><date date-type="received"><day>19</day><month>6</month><year>2009</year></date><date date-type="rev-recd"><day>25</day><month>8</month><year>2009</year></date><date date-type="accepted"><day>7</day><month>9</month><year>2009</year></date></history><copyright-statement>© The Author 2009. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org</copyright-statement><copyright-year>2009</copyright-year><abstract><p>Grb10-Interacting GYF Protein 2 (GIGYF2) was initially identified through its interaction with Grb10, an adapter protein that binds activated IGF-I and insulin receptors. The <italic>GIGYF2</italic> gene maps to human chromosome 2q37 within a region linked to familial Parkinson's disease (PARK11 locus), and association of <italic>GIGYF2</italic> mutations with Parkinson's disease has been described in some but not other recent publications. This study investigated the consequences of <italic>Gigyf2</italic> gene disruption in mice. <italic>Gigyf2</italic> null mice undergo apparently normal embryonic development, but fail to feed and die within the first 2 post-natal days. Heterozygous <italic>Gigyf2</italic><sup>+/−</sup> mice survive to adulthood with no evident metabolic or growth defects. At 12–15 months of age, the <italic>Gigyf2</italic><sup>+/−</sup> mice begin to exhibit motor dysfunction manifested as decreased balance time on a rotating horizontal rod. This is associated with histopathological evidence of neurodegeneration and rare intracytoplasmic Lewy body-like inclusions in spinal anterior horn motor neurons. There are α-synuclein positive neuritic plaques in the brainstem and cerebellum, but no abnormalities in the substantia nigra. Primary cultured embryo fibroblasts from <italic>Gigyf2</italic> null mice exhibit decreased IGF-I-stimulated IGF-I receptor tyrosine phosphorylation and augmented ERK1/2 phosphorylation. These data provide further evidence for an important role of GIGYF2 in age-related neurodegeneration and IGF pathway signaling.</p></abstract></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling</title></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling</title></titleInfo><name type="personal"><namePart type="given">Barbara</namePart><namePart type="family">Giovannone</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">William G.</namePart><namePart type="family">Tsiaras</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Suzanne</namePart><namePart type="family">de la Monte</namePart><affiliation>903, USA,</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jan</namePart><namePart type="family">Klysik</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Corinne</namePart><namePart type="family">Lautier</namePart><affiliation></affiliation><description>Present address: Universite Montpellier II, Montpellier, France.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Galina</namePart><namePart type="family">Karashchuk</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Stefano</namePart><namePart type="family">Goldwurm</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Robert J.</namePart><namePart type="family">Smith</namePart><affiliation></affiliation><affiliation>E-mail: rsmith4@lifespan.org</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="research-article"></genre><originInfo><publisher>Oxford University Press</publisher><dateIssued encoding="w3cdtf">2009-12-01</dateIssued><dateCreated encoding="w3cdtf">2009-09-10</dateCreated><copyrightDate encoding="w3cdtf">2009</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract>Grb10-Interacting GYF Protein 2 (GIGYF2) was initially identified through its interaction with Grb10, an adapter protein that binds activated IGF-I and insulin receptors. The GIGYF2 gene maps to human chromosome 2q37 within a region linked to familial Parkinson's disease (PARK11 locus), and association of GIGYF2 mutations with Parkinson's disease has been described in some but not other recent publications. This study investigated the consequences of Gigyf2 gene disruption in mice. Gigyf2 null mice undergo apparently normal embryonic development, but fail to feed and die within the first 2 post-natal days. Heterozygous Gigyf2/ mice survive to adulthood with no evident metabolic or growth defects. At 1215 months of age, the Gigyf2/ mice begin to exhibit motor dysfunction manifested as decreased balance time on a rotating horizontal rod. This is associated with histopathological evidence of neurodegeneration and rare intracytoplasmic Lewy body-like inclusions in spinal anterior horn motor neurons. There are -synuclein positive neuritic plaques in the brainstem and cerebellum, but no abnormalities in the substantia nigra. Primary cultured embryo fibroblasts from Gigyf2 null mice exhibit decreased IGF-I-stimulated IGF-I receptor tyrosine phosphorylation and augmented ERK1/2 phosphorylation. These data provide further evidence for an important role of GIGYF2 in age-related neurodegeneration and IGF pathway signaling.</abstract><note type="footnotes">Present address: Universite Montpellier II, Montpellier, France.</note><relatedItem type="host"><titleInfo><title>Human Molecular Genetics</title></titleInfo><genre type="Journal">journal</genre><identifier type="ISSN">0964-6906</identifier><identifier type="eISSN">1460-2083</identifier><identifier type="PublisherID">hmg</identifier><identifier type="PublisherID-hwp">hmg</identifier><part><date>2009</date><detail type="volume"><caption>vol.</caption><number>18</number></detail><detail type="issue"><caption>no.</caption><number>23</number></detail><extent unit="pages"><start>4629</start><end>4639</end></extent></part></relatedItem><identifier type="istex">CC2507EC1926A075621F40EC5709A68C8E18DB00</identifier><identifier type="DOI">10.1093/hmg/ddp430</identifier><identifier type="ArticleID">ddp430</identifier><accessCondition type="use and reproduction" contentType="copyright">The Author 2009. 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