{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T15:56:45Z","timestamp":1792079805610,"version":"4.4.0"},"reference-count":49,"publisher":"Rockefeller University Press","issue":"5","content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[1998,11,30]]},"abstract":"<jats:p>The L1 CAM family of cell adhesion molecules and the ankyrin family of spectrin-binding proteins are candidates to collaborate in transcellular complexes used in diverse contexts in nervous systems of vertebrates and invertebrates. This report presents evidence for functional coupling between L1 and 440-kD ankyrinB in premyelinated axons in the mouse nervous system. L1 and 440-kD ankyrinB are colocalized in premyelinated axon tracts in the developing nervous system and are both down-regulated after myelination. AnkyrinB (\u2212\/\u2212) mice exhibit a phenotype similar to, but more severe, than L1 (\u2212\/\u2212) mice and share features of human patients with L1 mutations. AnkyrinB (\u2212\/\u2212) mice exhibit hypoplasia of the corpus callosum and pyramidal tracts, dilated ventricles, and extensive degeneration of the optic nerve, and they die by postnatal day 21. AnkyrinB (\u2212\/\u2212) mice have reduced L1 in premyelinated axons of long fiber tracts, including the corpus callosum, fimbria, and internal capsule in the brain, and pyramidal tracts and lateral columns of the spinal cord. L1 was evident in the optic nerve at postnatal day 1 but disappeared by postnatal day 7 in mutant mice while NCAM was unchanged. Optic nerve axons of ankyrinB (\u2212\/\u2212) mice become dilated with diameters up to eightfold greater than normal, and they degenerated by day 20. These findings provide the first evidence for a role of ankyrinB in the nervous system and support an interaction between 440-kD ankyrinB and L1 that is essential for maintenance of premyelinated axons in vivo.<\/jats:p>","DOI":"10.1083\/jcb.143.5.1305","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T16:45:41Z","timestamp":1027701941000},"page":"1305-1315","update-policy":"https:\/\/doi.org\/10.1083\/jcb.crossmarkpolicy","source":"Crossref","is-referenced-by-count":161,"title":["Nervous System Defects of AnkyrinB (\u2212\/\u2212) Mice Suggest Functional Overlap between the Cell Adhesion Molecule L1 and 440-kD AnkyrinB in Premyelinated Axons"],"prefix":"10.1083","volume":"143","author":[{"given":"Paula","family":"Scotland","sequence":"first","affiliation":[{"name":"*Howard Hughes Medical Institute and *Departments of Cell Biology, *Biochemistry, \u2021\u2009Neurobiology, \u2021Anesthesiology, and \u2021Radiology, Duke University Medical Center, Durham, North Carolina 27710"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daixing","family":"Zhou","sequence":"additional","affiliation":[{"name":"*Howard Hughes Medical Institute and *Departments of Cell Biology, *Biochemistry, \u2021\u2009Neurobiology, \u2021Anesthesiology, and \u2021Radiology, Duke University Medical Center, Durham, North Carolina 27710"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helene","family":"Benveniste","sequence":"additional","affiliation":[{"name":"*Howard Hughes Medical Institute and *Departments of Cell Biology, *Biochemistry, \u2021\u2009Neurobiology, \u2021Anesthesiology, and \u2021Radiology, Duke University Medical Center, Durham, North Carolina 27710"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vann","family":"Bennett","sequence":"additional","affiliation":[{"name":"*Howard Hughes Medical Institute and *Departments of Cell Biology, *Biochemistry, \u2021\u2009Neurobiology, \u2021Anesthesiology, and \u2021Radiology, Duke University Medical Center, Durham, North Carolina 27710"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[1998,11,30]]},"reference":[{"key":"2023072900241044800_B1","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1097\/00004424-199202000-00013","article-title":"A probe for specimen magnetic resonance microscopy","volume":"27","author":"Banson","year":"1992","journal-title":"Investig Radiol"},{"key":"2023072900241044800_B2","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1002\/cne.902840310","article-title":"Immunohistological localization of the adhesion molecules L1, N-CAM, and MAG in the developing and adult optic nerve of mice","volume":"284","author":"Bartsch","year":"1989","journal-title":"J Comp Neurol"},{"key":"2023072900241044800_B3","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1002\/mrm.1910360108","article-title":"An in vitro evaluation of the effects of local magnetic-susceptibility-induced gradients on anisotropic water diffusion in nerve","volume":"36","author":"Beaulieu","year":"1996","journal-title":"Magn Res Med"},{"key":"2023072900241044800_B4","first-page":"107","article-title":"Molecular architecture of the specialized axonal membrane at the node of Ranvier","volume":"52","author":"Bennett","year":"1997","journal-title":"Soc Gen Physiol"},{"key":"2023072900241044800_B5","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/0092-8674(89)90029-9","article-title":"Drosophilaneuroglian: a member of the immunoglobulin superfamily with extensive homology to the vertebrate neural adhesion molecule L1","volume":"59","author":"Bieber","year":"1989","journal-title":"Cell"},{"key":"2023072900241044800_B6","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/S0959-4388(98)80012-3","article-title":"Neural cell recognition molecule L1: from cell biology to human hereditary brain malformations","volume":"8","author":"Brummendorf","year":"1998","journal-title":"Curr Opin Neurobiol"},{"key":"2023072900241044800_B7","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1083\/jcb.123.6.1463","article-title":"440-kD ankyrin-B: structure of the major developmentally regulated domain and selective localization in unmyelinated axons","volume":"123","author":"Chan","year":"1993","journal-title":"J Cell Biol"},{"key":"2023072900241044800_B8","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/S0960-9822(98)70017-X","article-title":"Errors in corticospinal axon guidance in mice lacking the neural cell adhesion molecule L1","volume":"8","author":"Cohen","year":"1998","journal-title":"Curr Biol"},{"key":"2023072900241044800_B9","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1038\/ng1197-346","article-title":"Disruption of the mouse L1 gene leads to malformations of the nervous system","volume":"17","author":"Dahme","year":"1997","journal-title":"Nat Genet"},{"key":"2023072900241044800_B10","doi-asserted-by":"crossref","first-page":"27163","DOI":"10.1016\/S0021-9258(18)46961-X","article-title":"Ankyrin binding activity shared by the neurofascin\/L1\/NrCAM family of nervous system cell adhesion molecules","volume":"269","author":"Davis","year":"1994","journal-title":"J Biol Chem"},{"key":"2023072900241044800_B11","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1083\/jcb.135.5.1355","article-title":"Molecular composition of the node of Ranvier: identification of ankyrin-binding cell adhesion molecules neurofascin (mucin+\/third FNIII domain\u2212) and NrCAM at nodal axon segments","volume":"135","author":"Davis","year":"1996","journal-title":"J Cell Biol"},{"key":"2023072900241044800_B12","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1083\/jcb.133.3.647","article-title":"Neuroglian-mediated cell adhesion induces assembly of the membrane skeleton at cell contact sites","volume":"133","author":"Dubreuil","year":"1996","journal-title":"J Cell Biol"},{"key":"2023072900241044800_B13","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/ng0696-214","article-title":"Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis","volume":"13","author":"Eber","year":"1996","journal-title":"Nat Genet"},{"key":"2023072900241044800_B14","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1159\/000472311","article-title":"CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1","volume":"3","author":"Fransen","year":"1995","journal-title":"Eur J Hum Genet"},{"key":"2023072900241044800_B15","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1093\/hmg\/6.10.1625","article-title":"L1-associated diseases: clinical geneticists divide, molecular geneticists unite","volume":"6","author":"Fransen","year":"1997","journal-title":"Hum Mol Genet"},{"key":"2023072900241044800_B16","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1136\/jmg.35.5.399","article-title":"Genotype-phenotype correlation in L1 associated diseases","volume":"35","author":"Fransen","year":"1998","journal-title":"J Med Genet"},{"key":"2023072900241044800_B17","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1093\/hmg\/7.6.999","article-title":"L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns","volume":"7","author":"Fransen","year":"1998","journal-title":"Hum Mol Genet"},{"key":"2023072900241044800_B18","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1083\/jcb.137.3.703","article-title":"Tyrosine phosphorylation at a site highly conserved in the L1 family of cell adhesion molecules abolishes ankyrin binding and increases lateral mobility of neurofascin","volume":"137","author":"Garver","year":"1997","journal-title":"J Cell Biol"},{"key":"2023072900241044800_B19","doi-asserted-by":"crossref","first-page":"28742","DOI":"10.1074\/jbc.272.45.28742","article-title":"Organization of the neurofascin gene and analysis of developmentally regulated alternative splicing","volume":"272","author":"Hassel","year":"1997","journal-title":"J Biol Chem"},{"key":"2023072900241044800_B20","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/S0171-9335(98)80052-6","article-title":"Tyrosine and serine phosphorylation of the neural cell adhesion molecule L1 is implicated in its oligomannosidic glycan dependent association with NCAM and neurite outgrowth","volume":"75","author":"Heiland","year":"1998","journal-title":"Eur J Cell Biol"},{"key":"2023072900241044800_B21","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/S0896-6273(00)80192-0","article-title":"The L1 family of neural cell adhesion molecules: old proteins performing new tricks","volume":"17","author":"Hortsch","year":"1996","journal-title":"Neuron"},{"key":"2023072900241044800_B22","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1083\/jcb.142.1.251","article-title":"Structural requirements for outside-in and inside-out signaling by Drosophilaneuroglian, a member of the L1 family of cell adhesion molecules","volume":"142","author":"Hortsch","year":"1998","journal-title":"J Cell Biol"},{"key":"2023072900241044800_B23","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1083\/jcb.128.6.1069","article-title":"Expression of functional domains of \u03b2-G spectrin disrupts epithelial morphology in cultured cells","volume":"128","author":"Hu","year":"1995","journal-title":"J Cell Biol"},{"key":"2023072900241044800_B24","first-page":"1","article-title":"Histology by magnetic resonance microscopy","volume":"9","author":"Johnson","year":"1993","journal-title":"Magn Reson"},{"key":"2023072900241044800_B25","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/0304-3940(89)90666-6","article-title":"Immunocytochemical localization of cell adhesion molecule L1 in developing rat pyramidal tract","volume":"100","author":"Joosten","year":"1989","journal-title":"Neurosci Lett"},{"key":"2023072900241044800_B26","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/ng0794-402","article-title":"X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene","volume":"7","author":"Jouet","year":"1994","journal-title":"Nat Genet"},{"key":"2023072900241044800_B27","doi-asserted-by":"crossref","first-page":"10730","DOI":"10.1073\/pnas.88.23.10730","article-title":"Toward an animal model of cystic fibrosis: targeted interruption of exon 10 of the cystic fibrosis transmembrane regulator gene in embryonic stem cells","volume":"88","author":"Koller","year":"1991","journal-title":"Proc Natl Acad Sci USA"},{"key":"2023072900241044800_B28","doi-asserted-by":"crossref","first-page":"2352","DOI":"10.1074\/jbc.270.5.2352","article-title":"Ankyrin-G. A new ankyrin gene with neural-specific isoforms localized at the axonal initial segment and node of Ranvier","volume":"270","author":"Kordeli","year":"1995","journal-title":"J Biol Chem"},{"key":"2023072900241044800_B29","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1002\/eji.1830220514","article-title":"Expression and function of the neural cell adhesion molecule L1 in mouse leukocytes","volume":"22","author":"Kowitz","year":"1992","journal-title":"Eur J Immunol"},{"key":"2023072900241044800_B30","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1083\/jcb.131.6.1821","article-title":"A neuron-specific isoform of brain ankyrin, 440-kD ankyrin-B, is targeted to the axons of rat cerebellar neurons","volume":"131","author":"Kunimoto","year":"1995","journal-title":"J Cell Biol"},{"key":"2023072900241044800_B31","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1083\/jcb.115.5.1319","article-title":"A new 440-kD isoform is the major ankyrin in neonatal rat brain","volume":"115","author":"Kunimoto","year":"1991","journal-title":"J Cell Biol"},{"key":"2023072900241044800_B32","doi-asserted-by":"crossref","first-page":"7025","DOI":"10.1523\/JNEUROSCI.17-18-07025.1997","article-title":"Morphogenesis of the node of Ranvier: co-clusters of ankyrin and ankyrin-binding integral proteins define early developmental intermediates","volume":"17","author":"Lambert","year":"1997","journal-title":"J Neurosci"},{"key":"2023072900241044800_B33","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1038\/336348a0","article-title":"Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes","volume":"336","author":"Mansour","year":"1988","journal-title":"Nature"},{"key":"2023072900241044800_B34","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF01189813","article-title":"Expression and functional roles of neural cell surface molecules and extracellular matrix components during development and regeneration of peripheral nerves","volume":"23","author":"Martini","year":"1994","journal-title":"J Neurocytol"},{"key":"2023072900241044800_B35","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1038\/360588a0","article-title":"Association of dystrophin-related protein with dystrophin-associated proteins in mdxmouse muscle","volume":"360","author":"Matsumura","year":"1992","journal-title":"Nature"},{"key":"2023072900241044800_B36","doi-asserted-by":"crossref","first-page":"22050","DOI":"10.1074\/jbc.270.37.22050","article-title":"The ANK repeats of erythrocyte ankyrin form two distinct but cooperative binding sites for the erythrocyte anion exchanger","volume":"270","author":"Michaely","year":"1995","journal-title":"J Biol Chem"},{"key":"2023072900241044800_B37","doi-asserted-by":"crossref","first-page":"31298","DOI":"10.1074\/jbc.270.52.31298","article-title":"Mechanism for binding site diversity on ankyrin: comparison of binding sites on ankyrin for neurofascin and the Cl\u2212\/ HCO3\u2212anion exchanger","volume":"270","author":"Michaely","year":"1995","journal-title":"J Biol Chem"},{"key":"2023072900241044800_B38","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1083\/jcb.129.4.1081","article-title":"An ankyrin-related gene (unc-44) is necessary for proper axonal guidance in Caenorhabditis elegans.","volume":"129","author":"Otsuka","year":"1995","journal-title":"J Cell Biol"},{"key":"2023072900241044800_B39","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1083\/jcb.114.2.241","article-title":"Isolation and characterization of cDNAs encoding human brain ankyrins reveal a family of alternatively spliced genes","volume":"114","author":"Otto","year":"1991","journal-title":"J Cell Biol"},{"key":"2023072900241044800_B40","first-page":"85","article-title":"Ankyrins: structure and function in normal cells and hereditary spherocytes","volume":"30","author":"Peters","year":"1993","journal-title":"Semin Hematol"},{"key":"2023072900241044800_B41","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1038\/ng1092-107","article-title":"Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus","volume":"2","author":"Rosenthal","year":"1992","journal-title":"Nat Genet"},{"key":"2023072900241044800_B42"},{"key":"2023072900241044800_B43","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1083\/jcb.119.6.1387","article-title":"Regulation of axonal growth in the vertebrate nervous system by interactions between glycoproteins belonging to two subgroups of the immunoglobulin superfamily","volume":"119","author":"Sonderegger","year":"1992","journal-title":"J Cell Biol"},{"key":"2023072900241044800_B44","doi-asserted-by":"crossref","first-page":"12957","DOI":"10.1073\/pnas.94.24.12957","article-title":"The phosphorylation state of the FIGQY tyrosine of neurofascin determines ankyrin-binding activity and patterns of cell segregation","volume":"94","author":"Tuvia","year":"1997","journal-title":"Proc Natl Acad Sci USA"},{"key":"2023072900241044800_B45","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/(SICI)1098-1004(1996)8:4<391::AID-HUMU19>3.0.CO;2-Y","article-title":"A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)","volume":"8","author":"Van Camp","year":"1996","journal-title":"Hum Mut"},{"key":"2023072900241044800_B46","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1146\/annurev.cellbio.13.1.425","article-title":"Neural cell adhesion molecules of the immunoglobulin superfamily: role in axon growth and guidance","volume":"13","author":"Walsh","year":"1997","journal-title":"Annu Rev Cell Dev Biol"},{"key":"2023072900241044800_B47","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/0166-2236(95)93896-6","article-title":"Mutations in the cell adhesion molecule L1 cause mental retardation","volume":"18","author":"Wong","year":"1995","journal-title":"Trends Neurosci"},{"key":"2023072900241044800_B48","doi-asserted-by":"crossref","first-page":"30785","DOI":"10.1074\/jbc.273.46.30785","article-title":"Structural requirements for association of neurofascin with ankyrin","volume":"273","author":"Zhang","year":"1998","journal-title":"J Biol Chem"},{"key":"2023072900241044800_B49","first-page":"655","article-title":"Tyrosine phosphorylation of L1 family adhesion molecules: implication of the Eph kinase Cek5","volume":"47","author":"Zisch","year":"1997","journal-title":"J Neurosci"}],"container-title":["The Journal of Cell Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/rupress.org\/jcb\/article-pdf\/143\/5\/1305\/1848896\/9808052.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/rupress.org\/jcb\/article-pdf\/143\/5\/1305\/1848896\/9808052.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,29]],"date-time":"2023-07-29T00:25:03Z","timestamp":1690590303000},"score":1,"resource":{"primary":{"URL":"https:\/\/rupress.org\/jcb\/article\/143\/5\/1305\/29416\/Nervous-System-Defects-of-AnkyrinB-Mice-Suggest"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,11,30]]},"references-count":49,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1998,11,30]]}},"URL":"https:\/\/doi.org\/10.1083\/jcb.143.5.1305","relation":{},"ISSN":["0021-9525","1540-8140"],"issn-type":[{"value":"0021-9525","type":"print"},{"value":"1540-8140","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,11,30]]}}}