Doublecortin expression in the rat dentate gyrus, 21st postnatal day. Oomen et al., 2009.[6]
Doublecortin (DCX) is a microtubule-associated protein expressed by neuronal precursor cells and immature neurons in embryonic and adult cortical structures. Neuronal precursor cells begin to express DCX while actively dividing, and their neuronal daughter cells continue to express DCX for 2–3 weeks as the cells mature into neurons. Downregulation of DCX begins after 2 weeks, and occurs at the same time that these cells begin to express NeuN, a neuronal marker.[7]
Due to the nearly exclusive expression of DCX in developing neurons, this protein has been used increasingly as a marker for neurogenesis. Indeed, levels of DCX expression increase in response to exercise,[8] and that increase occurs in parallel with increased BrdU labeling, which is currently a "gold standard" in measuring neurogenesis.
Double layer hippocampus seen in Doublecortin knock out mice (right panels) compared to the normal hippocampus in wild type mice (left panels). Figure extracted from the work of the laboratory of Fiona Francis
In mice where the Doublecortin gene has been knocked out, cortical layers are still correctly formed. However, the hippocampi of these mice show disorganisation in the CA3 region. The normally single layer of pyramidal cells in mutants is seen as a double layer. These mice also have different behavior than their wild type littermates and are epileptic.[10]
Structureedit
Doublecortin
solution structure of the N-terminal dcx domain of human doublecortin-like kinase
The detailed sequence analysis of Doublecortin and Doublecortin-like proteins allowed the identification of a tandem repeat of evolutionarily conserved Doublecortin (DC) domains. These domains are found in the N terminus of proteins and consists of tandemly repeated copies of an around 80 amino acids region. It has been suggested that the first DC domain of Doublecortin binds tubulin and enhances microtubule polymerisation.[11]
Doublecortin has been shown to influence the structure of microtubules. Microtubule nucleated in vitro in the presence of Doublecortin have almost exclusively 13 protofilaments, whereas microtubule nucleated without Doublecortin are present in a range of different sizes.
Doublecortin is mutated in X-linked lissencephaly and the double cortex syndrome, and the clinical manifestations are sex-linked. In males, X-linked lissencephaly produces a smooth brain due to lack of migration of immature neurons, which normally promote folding of the brain surface. Double cortex syndrome is characterized by abnormal migration of neural tissue during development which results in two bands of misplaced neurons within the subcortical white, generating two cortices, giving the name to the syndrome; this finding generally occurs in females.[13] The mutation was discovered by Joseph Gleeson and Christopher A. Walsh in Boston.[14][15] At least 49 disease-causing mutations in this gene have been discovered.[16]
^Oomen CA, Girardi CE, Cahyadi R, Verbeek EC, Krugers H, Joëls M, Lucassen PJ (2009). "Opposite effects of early maternal deprivation on neurogenesis in male versus female rats". PLOS ONE. 4 (1): e3675. Bibcode:2009PLoSO...4.3675O. doi:10.1371/journal.pone.0003675. PMC2629844. PMID 19180242.
^Brown JP, Couillard-Després S, Cooper-Kuhn CM, Winkler J, Aigner L, Kuhn HG (December 2003). "Transient expression of doublecortin during adult neurogenesis". J. Comp. Neurol. 467 (1): 1–10. doi:10.1002/cne.10874. PMID 14574675. S2CID 25315374.
^Couillard-Despres S, Winner B, Schaubeck S, Aigner R, Vroemen M, Weidner N, Bogdahn U, Winkler J, Kuhn HG, Aigner L (January 2005). "Doublecortin expression levels in adult brain reflect neurogenesis". Eur. J. Neurosci. 21 (1): 1–14. doi:10.1111/j.1460-9568.2004.03813.x. PMID 15654838. S2CID 45893767.
^Horesh D, Sapir T, Francis F, Wolf SG, Caspi M, Elbaum M, Chelly J, Reiner O (September 1999). "Doublecortin, a stabilizer of microtubules". Hum. Mol. Genet. 8 (9): 1599–610. doi:10.1093/hmg/8.9.1599. PMID 10441322.
^Nosten-Bertrand M, Kappeler C, Dinocourt C, Denis C, Germain J, Phan Dinh Tuy F, Verstraeten S, Alvarez C, Métin C, Chelly J, Giros B, Miles R, Depaulis A, Francis F (2008-06-25). "Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus". PLOS ONE. 3 (6): e2473. Bibcode:2008PLoSO...3.2473N. doi:10.1371/journal.pone.0002473. PMC2429962. PMID 18575605.
^Sapir T, Horesh D, Caspi M, Atlas R, Burgess HA, Wolf SG, Francis F, Chelly J, Elbaum M, Pietrokovski S, Reiner O (March 2000). "Doublecortin mutations cluster in evolutionarily conserved functional domains". Hum. Mol. Genet. 9 (5): 703–12. doi:10.1093/hmg/9.5.703. PMID 10749977.
^Caspi M, Atlas R, Kantor A, Sapir T, Reiner O (September 2000). "Interaction between LIS1 and doublecortin, two lissencephaly gene products". Hum. Mol. Genet. 9 (15): 2205–13. doi:10.1093/oxfordjournals.hmg.a018911. PMID 11001923.
^Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA (January 1998). "Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein". Cell. 92 (1): 63–72. doi:10.1016/S0092-8674(00)80899-5. PMID 9489700.
^Lowenstein DH (2011). "Seizures and Epilepsy". In Loscalzo J, Longo DL, Fauci AS, Kasper DL, Hauser SL (eds.). Harrison's Principles of Internal Medicine (18th ed.). McGraw-Hill Professional. pp. 3251–3269. ISBN978-0-07-174889-6.
^Šimčíková D, Heneberg P (December 2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports. 9 (1): 18577. Bibcode:2019NatSR...918577S. doi:10.1038/s41598-019-54976-4. PMC6901466. PMID 31819097.
Further readingedit
des Portes V, Pinard JM, Smadja D, et al. (1997). "Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22". J. Med. Genet. 34 (3): 177–83. doi:10.1136/jmg.34.3.177. PMC1050888. PMID 9132485.
des Portes V, Pinard JM, Billuart P, et al. (1998). "A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome". Cell. 92 (1): 51–61. doi:10.1016/S0092-8674(00)80898-3. PMID 9489699.
Gleeson JG, Allen KM, Fox JW, et al. (1998). "Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein". Cell. 92 (1): 63–72. doi:10.1016/S0092-8674(00)80899-5. PMID 9489700.
des Portes V, Francis F, Pinard JM, et al. (1999). "doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)". Hum. Mol. Genet. 7 (7): 1063–70. doi:10.1093/hmg/7.7.1063. PMID 9618162.
Sossey-Alaoui K, Hartung AJ, Guerrini R, et al. (1998). "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. 7 (8): 1327–32. doi:10.1093/hmg/7.8.1327. PMID 9668176.
Pilz DT, Matsumoto N, Minnerath S, et al. (1999). "LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation". Hum. Mol. Genet. 7 (13): 2029–37. doi:10.1093/hmg/7.13.2029. PMID 9817918.
Gleeson JG, Minnerath SR, Fox JW, et al. (1999). "Characterization of mutations in the gene doublecortin in patients with double cortex syndrome". Ann. Neurol. 45 (2): 146–53. doi:10.1002/1531-8249(199902)45:2<146::AID-ANA3>3.0.CO;2-N. PMID 9989615. S2CID 37046760.
Kato M, Kimura T, Lin C, et al. (1999). "A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia". Hum. Genet. 104 (4): 341–4. doi:10.1007/s004390050963. PMID 10369164. S2CID 875280.
Gleeson JG, Lin PT, Flanagan LA, Walsh CA (1999). "Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons". Neuron. 23 (2): 257–71. doi:10.1016/S0896-6273(00)80778-3. PMID 10399933.
Pilz DT, Kuc J, Matsumoto N, et al. (2000). "Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1". Hum. Mol. Genet. 8 (9): 1757–60. doi:10.1093/hmg/8.9.1757. PMID 10441340.
Sakamoto M, Ono J, Okada S, et al. (2000). "Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence". J. Hum. Genet. 45 (3): 167–70. doi:10.1007/s100380050204. PMID 10807542.
Caspi M, Atlas R, Kantor A, et al. (2001). "Interaction between LIS1 and doublecortin, two lissencephaly gene products". Hum. Mol. Genet. 9 (15): 2205–13. doi:10.1093/oxfordjournals.hmg.a018911. PMID 11001923.
Matsumoto N, Leventer RJ, Kuc JA, et al. (2001). "Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia". Eur. J. Hum. Genet. 9 (1): 5–12. doi:10.1038/sj.ejhg.5200548. PMID 11175293.
Demelas L, Serra G, Conti M, et al. (2001). "Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene". Neurology. 57 (2): 327–30. doi:10.1212/wnl.57.2.327. PMID 11468322. S2CID 6735445.
Friocourt G, Chafey P, Billuart P, et al. (2001). "Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system". Mol. Cell. Neurosci. 18 (3): 307–19. doi:10.1006/mcne.2001.1022. PMID 11591131. S2CID 54264008.
Kato M, Kanai M, Soma O, et al. (2001). "Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis". Ann. Neurol. 50 (4): 547–51. doi:10.1002/ana.1231. PMID 11601509. S2CID 18259219.
des Portes V, Abaoub L, Joannard A, et al. (2002). "So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation". Seizure: The Journal of the British Epilepsy Association. 11 (4): 273–7. doi:10.1053/seiz.2001.0607. PMID 12027577.
Kizhatil K, Wu YX, Sen A, Bennett V (2002). "A new activity of doublecortin in recognition of the phospho-FIGQY tyrosine in the cytoplasmic domain of neurofascin". J. Neurosci. 22 (18): 7948–58. doi:10.1523/JNEUROSCI.22-18-07948.2002. PMC6758080. PMID 12223548.
D'Agostino MD, Bernasconi A, Das S, et al. (2002). "Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females". Brain. 125 (Pt 11): 2507–22. doi:10.1093/brain/awf248. PMID 12390976.
Meyer G, Perez-Garcia CG, Gleeson JG (2003). "Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement". Cereb. Cortex. 12 (12): 1225–36. doi:10.1093/cercor/12.12.1225. PMID 12427674.
External linksedit
Media related to doublecortin at Wikimedia Commons
GeneReviews/NCBI/NIH/UW entry on DCX-Related Disorders
Overview of all the structural information available in the PDB for UniProt: O43602 (Neuronal migration protein doublecortin) at the PDBe-KB.
This article incorporates text from the public domain Pfam and InterPro: IPR003533
December 15, 2023
doublecortin, neuronal, migration, protein, doublecortin, also, known, doublin, lissencephalin, protein, that, humans, encoded, gene, dcxavailable, structurespdbortholog, search, pdbe, rcsblist, codes4atu, 1mjd, 2bqq, 2xrp, 5in7, 5ioi, 5ikc, 5ip4, 5io9identifi. Neuronal migration protein doublecortin also known as doublin or lissencephalin X is a protein that in humans is encoded by the DCX gene 5 DCXAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes4ATU 1MJD 2BQQ 2XRP 5IN7 5IOI 5IKC 5IP4 5IO9IdentifiersAliasesDCX DBCN DC LISX SCLH XLIS doublecortinExternal IDsOMIM 300121 MGI 1277171 HomoloGene 7683 GeneCards DCXGene location Human Chr X chromosome human 1 BandXq23Start111 293 779 bp 1 End111 412 429 bp 1 Gene location Mouse Chr X chromosome mouse 2 BandX X F2Start142 638 838 bp 2 End142 716 307 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inganglionic eminenceendothelial cellBrodmann area 23middle temporal gyrussecondary oocyteBrodmann area 10Brodmann area 46entorhinal cortexcorpus epididymissuperior frontal gyrusTop expressed intrigeminal ganglionbarrel cortexganglionic eminencemedial ganglionic eminencesuperior cervical ganglionfossaneural tubeolfactory bulbsexually immature organismcondyleMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein binding protein kinase binding microtubule bindingCellular componentcell projection microtubule associated complex microtubule cytoskeleton cytosol neuron projection cytoplasm axonemeBiological processcell differentiation nervous system development multicellular organism development central nervous system development neuron migration intracellular signal transduction axoneme assembly photoreceptor cell development retina development in camera type eyeSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez164113193EnsemblENSG00000077279ENSMUSG00000031285UniProtO43602O88809RefSeq mRNA NM 000555NM 001195553NM 178151NM 178152NM 178153NM 001369370NM 001369371NM 001369372NM 001369373NM 001369374NM 001110222NM 001110223NM 001110224NM 010025RefSeq protein NP 000546NP 001182482NP 835364NP 835365NP 835366NP 001356299NP 001356300NP 001356301NP 001356302NP 001356303NP 001103692NP 001103693NP 001103694NP 034155Location UCSC Chr X 111 29 111 41 MbChr X 142 64 142 72 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Knock out mouse 3 Structure 4 Interactions 5 Clinical significance 6 See also 7 References 8 Further reading 9 External linksFunction edit nbsp Doublecortin expression in the rat dentate gyrus 21st postnatal day Oomen et al 2009 6 Doublecortin DCX is a microtubule associated protein expressed by neuronal precursor cells and immature neurons in embryonic and adult cortical structures Neuronal precursor cells begin to express DCX while actively dividing and their neuronal daughter cells continue to express DCX for 2 3 weeks as the cells mature into neurons Downregulation of DCX begins after 2 weeks and occurs at the same time that these cells begin to express NeuN a neuronal marker 7 Due to the nearly exclusive expression of DCX in developing neurons this protein has been used increasingly as a marker for neurogenesis Indeed levels of DCX expression increase in response to exercise 8 and that increase occurs in parallel with increased BrdU labeling which is currently a gold standard in measuring neurogenesis Doublecortin was found to bind to the microtubule cytoskeleton In vivo and in vitro assays show that Doublecortin stabilizes microtubules and causes bundling 9 Doublecortin is a basic protein with an iso electric point of 10 typical of microtubule binding proteins Knock out mouse edit nbsp Double layer hippocampus seen in Doublecortin knock out mice right panels compared to the normal hippocampus in wild type mice left panels Figure extracted from the work of the laboratory of Fiona FrancisIn mice where the Doublecortin gene has been knocked out cortical layers are still correctly formed However the hippocampi of these mice show disorganisation in the CA3 region The normally single layer of pyramidal cells in mutants is seen as a double layer These mice also have different behavior than their wild type littermates and are epileptic 10 Structure editDoublecortin nbsp solution structure of the N terminal dcx domain of human doublecortin like kinaseIdentifiersSymbolDCXPfamPF03607InterProIPR003533SCOP21mfw SCOPe SUPFAMCDDcd01617Available protein structures Pfam structures ECOD PDBRCSB PDB PDBe PDBjPDBsumstructure summaryThe detailed sequence analysis of Doublecortin and Doublecortin like proteins allowed the identification of a tandem repeat of evolutionarily conserved Doublecortin DC domains These domains are found in the N terminus of proteins and consists of tandemly repeated copies of an around 80 amino acids region It has been suggested that the first DC domain of Doublecortin binds tubulin and enhances microtubule polymerisation 11 Doublecortin has been shown to influence the structure of microtubules Microtubule nucleated in vitro in the presence of Doublecortin have almost exclusively 13 protofilaments whereas microtubule nucleated without Doublecortin are present in a range of different sizes Interactions editDoublecortin has been shown to interact with PAFAH1B1 12 Clinical significance editDoublecortin is mutated in X linked lissencephaly and the double cortex syndrome and the clinical manifestations are sex linked In males X linked lissencephaly produces a smooth brain due to lack of migration of immature neurons which normally promote folding of the brain surface Double cortex syndrome is characterized by abnormal migration of neural tissue during development which results in two bands of misplaced neurons within the subcortical white generating two cortices giving the name to the syndrome this finding generally occurs in females 13 The mutation was discovered by Joseph Gleeson and Christopher A Walsh in Boston 14 15 At least 49 disease causing mutations in this gene have been discovered 16 See also editLissencephalyReferences edit a b c GRCh38 Ensembl release 89 ENSG00000077279 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000031285 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine EntrezGene 1641 Oomen CA Girardi CE Cahyadi R Verbeek EC Krugers H Joels M Lucassen PJ 2009 Opposite effects of early maternal deprivation on neurogenesis in male versus female rats PLOS ONE 4 1 e3675 Bibcode 2009PLoSO 4 3675O doi 10 1371 journal pone 0003675 PMC 2629844 PMID 19180242 Brown JP Couillard Despres S Cooper Kuhn CM Winkler J Aigner L Kuhn HG December 2003 Transient expression of doublecortin during adult neurogenesis J Comp Neurol 467 1 1 10 doi 10 1002 cne 10874 PMID 14574675 S2CID 25315374 Couillard Despres S Winner B Schaubeck S Aigner R Vroemen M Weidner N Bogdahn U Winkler J Kuhn HG Aigner L January 2005 Doublecortin expression levels in adult brain reflect neurogenesis Eur J Neurosci 21 1 1 14 doi 10 1111 j 1460 9568 2004 03813 x PMID 15654838 S2CID 45893767 Horesh D Sapir T Francis F Wolf SG Caspi M Elbaum M Chelly J Reiner O September 1999 Doublecortin a stabilizer of microtubules Hum Mol Genet 8 9 1599 610 doi 10 1093 hmg 8 9 1599 PMID 10441322 Nosten Bertrand M Kappeler C Dinocourt C Denis C Germain J Phan Dinh Tuy F Verstraeten S Alvarez C Metin C Chelly J Giros B Miles R Depaulis A Francis F 2008 06 25 Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus PLOS ONE 3 6 e2473 Bibcode 2008PLoSO 3 2473N doi 10 1371 journal pone 0002473 PMC 2429962 PMID 18575605 Sapir T Horesh D Caspi M Atlas R Burgess HA Wolf SG Francis F Chelly J Elbaum M Pietrokovski S Reiner O March 2000 Doublecortin mutations cluster in evolutionarily conserved functional domains Hum Mol Genet 9 5 703 12 doi 10 1093 hmg 9 5 703 PMID 10749977 Caspi M Atlas R Kantor A Sapir T Reiner O September 2000 Interaction between LIS1 and doublecortin two lissencephaly gene products Hum Mol Genet 9 15 2205 13 doi 10 1093 oxfordjournals hmg a018911 PMID 11001923 Online Mendelian Inheritance in Man OMIM Doublecortin 300121 Gleeson JG Allen KM Fox JW Lamperti ED Berkovic S Scheffer I Cooper EC Dobyns WB Minnerath SR Ross ME Walsh CA January 1998 Doublecortin a brain specific gene mutated in human X linked lissencephaly and double cortex syndrome encodes a putative signaling protein Cell 92 1 63 72 doi 10 1016 S0092 8674 00 80899 5 PMID 9489700 Lowenstein DH 2011 Seizures and Epilepsy In Loscalzo J Longo DL Fauci AS Kasper DL Hauser SL eds Harrison s Principles of Internal Medicine 18th ed McGraw Hill Professional pp 3251 3269 ISBN 978 0 07 174889 6 Simcikova D Heneberg P December 2019 Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases Scientific Reports 9 1 18577 Bibcode 2019NatSR 918577S doi 10 1038 s41598 019 54976 4 PMC 6901466 PMID 31819097 Further reading editdes Portes V Pinard JM Smadja D et al 1997 Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome XSCLH LIS evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22 J Med Genet 34 3 177 83 doi 10 1136 jmg 34 3 177 PMC 1050888 PMID 9132485 des Portes V Pinard JM Billuart P et al 1998 A novel CNS gene required for neuronal migration and involved in X linked subcortical laminar heterotopia and lissencephaly syndrome Cell 92 1 51 61 doi 10 1016 S0092 8674 00 80898 3 PMID 9489699 Gleeson JG Allen KM Fox JW et al 1998 Doublecortin a brain specific gene mutated in human X linked lissencephaly and double cortex syndrome encodes a putative signaling protein Cell 92 1 63 72 doi 10 1016 S0092 8674 00 80899 5 PMID 9489700 des Portes V Francis F Pinard JM et al 1999 doublecortin is the major gene causing X linked subcortical laminar heterotopia SCLH Hum Mol Genet 7 7 1063 70 doi 10 1093 hmg 7 7 1063 PMID 9618162 Sossey Alaoui K Hartung AJ Guerrini R et al 1998 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 7 8 1327 32 doi 10 1093 hmg 7 8 1327 PMID 9668176 Pilz DT Matsumoto N Minnerath S et al 1999 LIS1 and XLIS DCX mutations cause most classical lissencephaly but different patterns of malformation Hum Mol Genet 7 13 2029 37 doi 10 1093 hmg 7 13 2029 PMID 9817918 Gleeson JG Minnerath SR Fox JW et al 1999 Characterization of mutations in the gene doublecortin in patients with double cortex syndrome Ann Neurol 45 2 146 53 doi 10 1002 1531 8249 199902 45 2 lt 146 AID ANA3 gt 3 0 CO 2 N PMID 9989615 S2CID 37046760 Kato M Kimura T Lin C et al 1999 A novel mutation of the doublecortin gene in Japanese patients with X linked lissencephaly and subcortical band heterotopia Hum Genet 104 4 341 4 doi 10 1007 s004390050963 PMID 10369164 S2CID 875280 Gleeson JG Lin PT Flanagan LA Walsh CA 1999 Doublecortin is a microtubule associated protein and is expressed widely by migrating neurons Neuron 23 2 257 71 doi 10 1016 S0896 6273 00 80778 3 PMID 10399933 Pilz DT Kuc J Matsumoto N et al 2000 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX XLIS or LIS1 Hum Mol Genet 8 9 1757 60 doi 10 1093 hmg 8 9 1757 PMID 10441340 Sakamoto M Ono J Okada S et al 2000 Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence J Hum Genet 45 3 167 70 doi 10 1007 s100380050204 PMID 10807542 Caspi M Atlas R Kantor A et al 2001 Interaction between LIS1 and doublecortin two lissencephaly gene products Hum Mol Genet 9 15 2205 13 doi 10 1093 oxfordjournals hmg a018911 PMID 11001923 Matsumoto N Leventer RJ Kuc JA et al 2001 Mutation analysis of the DCX gene and genotype phenotype correlation in subcortical band heterotopia Eur J Hum Genet 9 1 5 12 doi 10 1038 sj ejhg 5200548 PMID 11175293 Demelas L Serra G Conti M et al 2001 Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene Neurology 57 2 327 30 doi 10 1212 wnl 57 2 327 PMID 11468322 S2CID 6735445 Friocourt G Chafey P Billuart P et al 2001 Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system Mol Cell Neurosci 18 3 307 19 doi 10 1006 mcne 2001 1022 PMID 11591131 S2CID 54264008 Kato M Kanai M Soma O et al 2001 Mutation of the doublecortin gene in male patients with double cortex syndrome somatic mosaicism detected by hair root analysis Ann Neurol 50 4 547 51 doi 10 1002 ana 1231 PMID 11601509 S2CID 18259219 des Portes V Abaoub L Joannard A et al 2002 So called cryptogenic partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation Seizure The Journal of the British Epilepsy Association 11 4 273 7 doi 10 1053 seiz 2001 0607 PMID 12027577 Kizhatil K Wu YX Sen A Bennett V 2002 A new activity of doublecortin in recognition of the phospho FIGQY tyrosine in the cytoplasmic domain of neurofascin J Neurosci 22 18 7948 58 doi 10 1523 JNEUROSCI 22 18 07948 2002 PMC 6758080 PMID 12223548 D Agostino MD Bernasconi A Das S et al 2002 Subcortical band heterotopia SBH in males clinical imaging and genetic findings in comparison with females Brain 125 Pt 11 2507 22 doi 10 1093 brain awf248 PMID 12390976 Meyer G Perez Garcia CG Gleeson JG 2003 Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement Cereb Cortex 12 12 1225 36 doi 10 1093 cercor 12 12 1225 PMID 12427674 External links edit nbsp Media related to doublecortin at Wikimedia Commons GeneReviews NCBI NIH UW entry on DCX Related Disorders OMIM entries on DCX Related Disorders doublecortin protein at the U S National Library of Medicine Medical Subject Headings MeSH Overview of all the structural information available in the PDB for UniProt O43602 Neuronal migration protein doublecortin at the PDBe KB This article incorporates text from the public domain Pfam and InterPro IPR003533 Retrieved from https en wikipedia org w index php title Doublecortin amp oldid 1188151228, wikipedia, wiki, book, books, library,
