DCX

Species Homo sapiens
Alternate Name(s) DC, DBCN, LISX, SCLH, XLIS
Epilepsy-Associated Disorder(s) X-linked lissencephaly
Description doublecortex; lissencephaly, X-linked (doublecortin)
Chromosome X
Locus Xq22.3-q23
Reference(s) Barkovich AJ, Kuziecky RI. Gray matter heterotopia. Neurology. 2000 Dec 12;55(11):1603-8.

Becker AJ, Klein H, Baden T, Aigner L, Normann S, Elger CE, Schramm J, Wiestler OD, Blumcke I. Mutational and expression analysis of the reelin pathway components CDK5 and doublecortin in gangliogliomas. Acta Neuropathol (Berl). 2002 Oct;104(4):403-8. Epub 2002 Jun 19.

Brandon NJ, Handford EJ, Schurov I, Rain JC, Pelling M, Duran-Jimeniz B, Camargo LM, Oliver KR, Beher D, Shearman MS, Whiting PJ. Disrupted in Schizophrenia 1 and Nudel form a neurodevelopmentally regulated protein complex: implications for schizophrenia and other major neurological disorders. Mol Cell Neurosci. 2004 Jan;25(1):42-55.

Couillard-Despres S, Winner B, Schaubeck S, Aigner R, Vroemen M, Weidner N, Bogdahn U, Winkler J, Kuhn HG, Aigner L. Doublecortin expression levels in adult brain reflect neurogenesis. Eur J Neurosci. 2005 Jan;21(1):1-14.

des Portes V, Francis F, Pinard JM, Desguerre I, Moutard ML, Snoeck I, Meiners LC, Capron F, Cusmai R, Ricci S, Motte J, Echenne B, Ponsot G, Dulac O, Chelly J, Beldjord C. doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). Hum Mol Genet. 1998 Jul;7(7):1063-70.

des Portes V, Pinard JM, Billuart P, Vinet MC, Koulakoff A, Carrie A, Gelot A, Dupuis E, Motte J, Berwald-Netter Y, Catala M, Kahn A, Beldjord C, Chelly J. A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell. 1998 Jan 9;92(1):51-61.

Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet. 1999 Oct 8;86(4):331-7.

Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 1998 Jan 9;92(1):63-72.

Guerrini R, Carrozzo R. Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. Seizure. 2002 Apr;11 Suppl A:532-43; quiz 544-7.

Guerrini R, Moro F, Andermann E, Hughes E, D'Agostino D, Carrozzo R, Bernasconi A, Flinter F, Parmeggiani L, Volzone A, Parrini E, Mei D, Jarosz JM, Morris RG, Pratt P, Tortorella G, Dubeau F, Andermann F, Dobyns WB, Das S. Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Ann Neurol. 2003 Jul;54(1):30-7.

Jessberger S, Romer B, Babu H, Kempermann G. Seizures induce proliferation and dispersion of doublecortin-positive hippocampal progenitor cells. Exp Neurol. 2005 Sep 15; [Epub ahead of print].

Kato M, Kimura T, Lin C, Ito A, Kodama S, Morikawa T, Soga T, Hayasaka K. A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia. Hum Genet. 1999 Apr;104(4):341-4.

Lawrence KM, Mei D, Newton MR, Leventer RJ, Guerrini R, Berkovic SF. Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria. Epilepsia. 2010 Sep;51(9):1902-5

Lapray D, Popova IY, Kindler J, Jorquera I, Becq H, Manent JB, Luhmann HJ, Represa A. Spontaneous Epileptic Manifestations in a DCX Knockdown Model of Human Double Cortex. Cereb Cortex. 2010 Feb 17.

Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet. 1998 Dec;7(13):2029-37.

Poolos NP, Das S, Clark GD, Lardizabal D, Noebels JL, Wyllie E, Dobyns WB. Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX. Neurology. 2002 May 28;58(10):1559-62.

Ramos RL, Bai J, Loturco JJ. Heterotopia Formation in Rat but Not Mouse Neocortex after RNA Interference Knockdown of DCX. Cereb Cortex. 2005 Nov 16; [Epub ahead of print].

Schaar BT, Kinoshita K, McConnell SK. Doublecortin microtubule affinity is regulated by a balance of kinase and phosphatase activity at the leading edge of migrating neurons. Neuron. 2004 Jan 22;41(2):203-13.

Sicca F, Kelemen A, Genton P, Das S, Mei D, Moro F, Dobyns WB, Guerrini R. Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 2003 Oct 28;61(8):1042-6.

Sossey-Alaoui K, Hartung AJ, Guerrini R, Manchester DK, Posar A, Puche-Mira A, Andermann E, Dobyns WB, Srivastava AK. Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects. Hum Mol Genet. 1998 Aug;7(8):1327-32.

Tanaka T, Serneo FF, Higgins C, Gambello MJ, Wynshaw-Boris A, Gleeson JG. Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. J Cell Biol. 2004 Jun 7;165(5):709-21. Epub 2004 Jun 01.

Tsukada M, Prokscha A, Ungewickell E, Eichele G. Doublecortin association with actin filaments is regulated by neurabin II. J Biol Chem. 2005 Mar 25;280(12):11361-8. Epub 2005 Jan 4.

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