Linkage and Physical Mapping of X-Linked Lissencephaly/SBH (XLIS): A Gene Causing Neuronal Migration Defects in Human Brain
Identifieur interne : 00CD90 ( Main/Exploration ); précédent : 00CD89; suivant : 00CD91Linkage and Physical Mapping of X-Linked Lissencephaly/SBH (XLIS): A Gene Causing Neuronal Migration Defects in Human Brain
Auteurs : M. Elizabeth Ross [États-Unis] ; Kristina M. Allen [États-Unis] ; Anand K. Srivastava [États-Unis] ; Terry Featherstone [États-Unis] ; Joseph G. Gleeson [États-Unis] ; Betsy Hirsch [États-Unis] ; Brian N. Harding [Royaume-Uni] ; Eva Andermann [Canada] ; Rabi Abdullah [États-Unis] ; Michael Berg [États-Unis] ; Desireé Czapansky-Bielman [États-Unis] ; Dean J. Flanders [États-Unis] ; Renzo Guerrini [Italie] ; Jacques Motté [France] ; A. Puche Mira [Espagne] ; Ingrid Scheffer [Australie] ; Samuel Berkovic [Australie] ; F. Scaravilli [Royaume-Uni] ; Richard A. King [États-Unis] ; David H. Ledbetter [États-Unis] ; David Schlessinger [États-Unis] ; William B. Dobyns [États-Unis] ; Christopher A. Walsh [États-Unis]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 1997-04.
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- Pascal (Inist)
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English descriptors
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Abstract
While disorders of neuronal migration are associated with as much as 25% of recurrent childhood seizures, few of the genes required to establish neuronal position in cerebral cortex are known. Subcortical band heterotopia (SBH) and lissencephaly (LIS), two distinct neuronal migration disorders producing epilepsy and variable cognitive impairment, can be inherited alone or together in a single pedigree. Here we report a new genetic locus, XLIS, mapped by linkage analysis of five families and physical mapping of a balanced X;2 translocation in a girl with LIS. Linkage places the critical region in Xq21–q24, containing the breakpoint that maps to Xq22.3–q23 by high-resolution chromosome analysis. Markers used for somatic cell hybrid and fluorescence in situ hybridization analyses place the XLIS region within a 1 cM interval. These data suggest that SBH and X-linked lissencephaly are caused by mutation of a single gene, XLIS, that the milder SBH pheno-type in females results from random X-inactivation (Lyonization), and that cloning of genes from the breakpoint region on X will yield XLIS.
Url:
DOI: 10.1093/hmg/6.4.555
Affiliations:
- Australie, Canada, Espagne, France, Italie, Royaume-Uni, États-Unis
- Angleterre, Caroline du Sud, Champagne-Ardenne, Grand Est, Grand Londres, Illinois, Massachusetts, Minnesota, Missouri (État), Québec, Toscane, État de New York
- Londres, Montréal, Pise, Reims
- Université McGill, Université de Pise
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Le document en format XML
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Puche" last="Mira">A. Puche Mira</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Hospital Universario V. 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Scaravilli</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neuropathology National Hospital for Neurology and Neurosurgery, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="King, Richard A" sort="King, Richard A" uniqKey="King R" first="Richard A." last="King">Richard A. King</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Pediatrics and Medicine, University of Minnesota Medical School, Minneapolis, MN</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Ledbetter, David H" sort="Ledbetter, David H" uniqKey="Ledbetter D" first="David H." last="Ledbetter">David H. Ledbetter</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Medical Genetics, University of Chicago, Chicago, IL</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Schlessinger, David" sort="Schlessinger, David" uniqKey="Schlessinger D" first="David" last="Schlessinger">David Schlessinger</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>J. C. Self Research Institute of Human Genetics Greenwood Genetic Center, Greenwood, SC 29646</wicri:regionArea><placeName><region type="state">Caroline du Sud</region></placeName></affiliation></author><author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, UMHC, Minneapolis, MN 55455</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Walsh, Christopher A" sort="Walsh, Christopher A" uniqKey="Walsh C" first="Christopher A." last="Walsh">Christopher A. Walsh</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Beth Israel Hospital Boston Children's Hospital and Harvard University, Boston, MA 02115</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Molecular Genetics</title><title level="j" type="abbrev">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="1997-04">1997-04</date><biblScope unit="volume">6</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="555">555</biblScope><biblScope unit="page" to="562">562</biblScope></imprint><idno type="ISSN">0964-6906</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cell motility</term><term>Central nervous system</term><term>Chromosome translocation</term><term>Gene</term><term>Genetic mapping</term><term>Genetics</term><term>Human</term><term>Linkage</term><term>Lissencephaly</term><term>Migration</term><term>Neuron</term><term>Physical map</term><term>Sex linked character</term><term>X-Chromosome</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Caractère lié au sexe</term><term>Carte génétique</term><term>Carte physique</term><term>Chromosome X</term><term>Gène</term><term>Génétique</term><term>Homme</term><term>Linkage</term><term>Lissencéphalie</term><term>Migration</term><term>Mouvement cellulaire</term><term>Neurone</term><term>Système nerveux central</term><term>Translocation chromosomique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Homme</term><term>Migration</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract">While disorders of neuronal migration are associated with as much as 25% of recurrent childhood seizures, few of the genes required to establish neuronal position in cerebral cortex are known. Subcortical band heterotopia (SBH) and lissencephaly (LIS), two distinct neuronal migration disorders producing epilepsy and variable cognitive impairment, can be inherited alone or together in a single pedigree. Here we report a new genetic locus, XLIS, mapped by linkage analysis of five families and physical mapping of a balanced X;2 translocation in a girl with LIS. Linkage places the critical region in Xq21–q24, containing the breakpoint that maps to Xq22.3–q23 by high-resolution chromosome analysis. Markers used for somatic cell hybrid and fluorescence in situ hybridization analyses place the XLIS region within a 1 cM interval. These data suggest that SBH and X-linked lissencephaly are caused by mutation of a single gene, XLIS, that the milder SBH pheno-type in females results from random X-inactivation (Lyonization), and that cloning of genes from the breakpoint region on X will yield XLIS.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Canada</li><li>Espagne</li><li>France</li><li>Italie</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Caroline du Sud</li><li>Champagne-Ardenne</li><li>Grand Est</li><li>Grand Londres</li><li>Illinois</li><li>Massachusetts</li><li>Minnesota</li><li>Missouri (État)</li><li>Québec</li><li>Toscane</li><li>État de New York</li></region><settlement><li>Londres</li><li>Montréal</li><li>Pise</li><li>Reims</li></settlement><orgName><li>Université McGill</li><li>Université de Pise</li></orgName></list><tree><country name="États-Unis"><region name="Minnesota"><name sortKey="Ross, M Elizabeth" sort="Ross, M Elizabeth" uniqKey="Ross M" first="M. Elizabeth" last="Ross">M. Elizabeth Ross</name></region><name sortKey="Abdullah, Rabi" sort="Abdullah, Rabi" uniqKey="Abdullah R" first="Rabi" last="Abdullah">Rabi Abdullah</name><name sortKey="Allen, Kristina M" sort="Allen, Kristina M" uniqKey="Allen K" first="Kristina M." last="Allen">Kristina M. Allen</name><name sortKey="Berg, Michael" sort="Berg, Michael" uniqKey="Berg M" first="Michael" last="Berg">Michael Berg</name><name sortKey="Czapansky Bielman, Desiree" sort="Czapansky Bielman, Desiree" uniqKey="Czapansky Bielman D" first="Desireé" last="Czapansky-Bielman">Desireé Czapansky-Bielman</name><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name><name sortKey="Featherstone, Terry" sort="Featherstone, Terry" uniqKey="Featherstone T" first="Terry" last="Featherstone">Terry Featherstone</name><name sortKey="Flanders, Dean J" sort="Flanders, Dean J" uniqKey="Flanders D" first="Dean J." last="Flanders">Dean J. Flanders</name><name sortKey="Gleeson, Joseph G" sort="Gleeson, Joseph G" uniqKey="Gleeson J" first="Joseph G." last="Gleeson">Joseph G. Gleeson</name><name sortKey="Hirsch, Betsy" sort="Hirsch, Betsy" uniqKey="Hirsch B" first="Betsy" last="Hirsch">Betsy Hirsch</name><name sortKey="King, Richard A" sort="King, Richard A" uniqKey="King R" first="Richard A." last="King">Richard A. King</name><name sortKey="Ledbetter, David H" sort="Ledbetter, David H" uniqKey="Ledbetter D" first="David H." last="Ledbetter">David H. Ledbetter</name><name sortKey="Schlessinger, David" sort="Schlessinger, David" uniqKey="Schlessinger D" first="David" last="Schlessinger">David Schlessinger</name><name sortKey="Srivastava, Anand K" sort="Srivastava, Anand K" uniqKey="Srivastava A" first="Anand K." last="Srivastava">Anand K. Srivastava</name><name sortKey="Walsh, Christopher A" sort="Walsh, Christopher A" uniqKey="Walsh C" first="Christopher A." last="Walsh">Christopher A. Walsh</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Harding, Brian N" sort="Harding, Brian N" uniqKey="Harding B" first="Brian N." last="Harding">Brian N. Harding</name></region><name sortKey="Scaravilli, F" sort="Scaravilli, F" uniqKey="Scaravilli F" first="F." last="Scaravilli">F. Scaravilli</name></country><country name="Canada"><region name="Québec"><name sortKey="Andermann, Eva" sort="Andermann, Eva" uniqKey="Andermann E" first="Eva" last="Andermann">Eva Andermann</name></region></country><country name="Italie"><region name="Toscane"><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name></region></country><country name="France"><region name="Grand Est"><name sortKey="Motte, Jacques" sort="Motte, Jacques" uniqKey="Motte J" first="Jacques" last="Motté">Jacques Motté</name></region></country><country name="Espagne"><noRegion><name sortKey="Mira, A Puche" sort="Mira, A Puche" uniqKey="Mira A" first="A. Puche" last="Mira">A. Puche Mira</name></noRegion></country><country name="Australie"><noRegion><name sortKey="Scheffer, Ingrid" sort="Scheffer, Ingrid" uniqKey="Scheffer I" first="Ingrid" last="Scheffer">Ingrid Scheffer</name></noRegion><name sortKey="Berkovic, Samuel" sort="Berkovic, Samuel" uniqKey="Berkovic S" first="Samuel" last="Berkovic">Samuel Berkovic</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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