Molecular cloning of cell adhesion molecule L1 from human nervous tissue
a comparison of the primary sequences of L1 molecules of different origin.Kobayashi M., Miura M., Asou H., Uyemura K.Biochim. Biophys. Acta 1090:238-240(1991)
Molecular structure and functional testing of human L1CAM
an interspecies comparison.Hlavin M.L., Lemmon V.Genomics 11:416-423(1991)
Variants of human L1 cell adhesion molecule arise through alternate splicing of RNA.Reid R.A., Hemperly J.J.J. Mol. Neurosci. 3:127-135(1992)
Genomic organization of two novel genes on human Xq28
compact head to head arrangement of IDH gamma and TRAP delta is conserved in rat and mouse.Brenner V., Nyakatura G., Rosenthal A., Platzer M.Genomics 44:8-14(1997)
The neural cell adhesion molecule L1
genomic organisation and differential splicing is conserved between man and the pufferfish Fugu.Coutelle O., Nyakatura G., Taudien S., Elgar G., Brenner S., Platzer M., Drescher B., Jouet M., Kenwrick S., Rosenthal A.Gene 208:7-15(1998)
Son Y.S.The DNA sequence of the human X chromosome.Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.Nature 434:325-337(2005)
Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
A human brain glycoprotein related to the mouse cell adhesion molecule L1.Wolff J.M., Frank R., Mujoo K., Spiro R.C., Reisfeld R.A., Rathjen F.G.J. Biol. Chem. 263:11943-11947(1988)
The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man.Djabali M., Mattei M.-G., Nguyen C., Roux D., Demengeot J., Denizot F., Moos M., Schachner M., Goridis C., Jordan B.R.Genomics 7:587-593(1990)
PCR walking from microdissection clone M54 identifies three exons from the human gene for the neural cell adhesion molecule L1 (CAM-L1)
.Rosenthal A., Mackinnon R.N., Jones D.S.C.Nucleic Acids Res. 19:5395-5401(1991)
Isolation and sequence of partial cDNA clones of human L1
homology of human and rodent L1 in the cytoplasmic region.Harper J.R., Prince J.T., Healy P.A., Stuart J.K., Nauman S.J., Stallcup W.B.J. Neurochem. 56:797-804(1991)
Casein kinase II phosphorylates the neural cell adhesion molecule L1.Wong E.V., Schaefer A.W., Landreth G., Lemmon V.J. Neurochem. 66:779-786(1996)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.J. Proteome Res. 4:2070-2080(2005)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.Cell 127:635-648(2006)
A quantitative atlas of mitotic phosphorylation.Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008)
Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.J. Proteome Res. 8:651-661(2009)
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.Sci. Signal. 3:RA3-RA3(2010)
Initial characterization of the human central proteome.Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.BMC Syst. Biol. 5:17-17(2011)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.Sci. Signal. 4:RS3-RS3(2011)
A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)
.Jouet M., Rosenthal A., Macfarlane J., Kenwrick S., Donnai D.Nat. Genet. 4:331-331(1993)
X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.Fransen E., Schrander-Stumpel C., Vits L., Coucke P., van Camp G., Willems P.J.Hum. Mol. Genet. 3:2255-2256(1994)
X-linked spastic paraplegia (SPG1)
, MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.Jouet M., Rosenthal A., Armstrong G., Macfarlane J., Stevenson R., Paterson J., Metzenberg A., Ionasescu V., Temple K., Kenwrick S.Nat. Genet. 7:402-407(1994)
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.Vits L., van Camp G., Coucke P., Fransen E., de Boulle K., Reyniers E., Korn B., Poustka A., Wilson G., Schrander-Stumpel C., Winter R.M., Schwartz C., Willems P.J.Nat. Genet. 7:408-413(1994)
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.Jouet M., Moncla A., Paterson J., McKeown C., Fryer A., Carpenter N., Holmberg E., Wadelius C., Kenwrick S.Am. J. Hum. Genet. 56:1304-1314(1995)
CRASH syndrome
clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.Fransen E., Lemmon V., van Camp G., Vits L., Coucke P., Willems P.J.Eur. J. Hum. Genet. 3:273-284(1995)
ErratumFransen E., Lemmon V., van Camp G., Vits L., Coucke P., Willems P.J.Eur. J. Hum. Genet. 4:126-126(1996)
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.Ruiz J.C., Cuppens H., Legius E., Fryns J.-P., Glover T., Marynen P., Cassiman J.-J.J. Med. Genet. 32:549-552(1995)
A new mutation of the L1CAM gene in an X-linked hydrocephalus family.Izumoto S., Yamasaki M., Arita N., Hiraga S., Ohnishi T., Fujitani K., Sakoda S., Hayakawa T.Childs Nerv. Syst. 12:742-747(1996)
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.Gu S.-M., Orth U., Veske A., Enders H., Kluender K., Schloesser M., Engel W., Schwinger E., Gal A.J. Med. Genet. 33:103-106(1996)
Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.Gu S.-M., Orth U., Zankl M., Schroeder J., Gal A.3.0.CO;2-L>Am. J. Med. Genet. 71:336-340(1997)
L1-associated diseases
clinical geneticists divide, molecular geneticists unite.Fransen E., Van Camp G., Vits L., Willems P.J.Hum. Mol. Genet. 6:1625-1632(1997)
Nine novel L1 CAM mutations in families with X-linked hydrocephalus.Macfarlane J.R., Du J.-S., Pepys M.E., Ramsden S., Donnai D., Charlton R., Garrett C., Tolmie J., Yates J.R.W., Berry C., Goudie D., Moncla A., Lunt P., Hodgson S., Jouet M., Kenwrick S.3.0.CO;2-3>Hum. Mutat. 9:512-518(1997)
Multiple exon screening using restriction endonuclease fingerprinting (REF)
detection of six novel mutations in the L1 cell adhesion molecule (L1CAM)
gene.Du Y.-Z., Srivastava A.K., Schwartz C.E.3.0.CO;2-J>Hum. Mutat. 11:222-230(1998)
Evidence for somatic and germline mosaicism in CRASH syndrome.Vits L., Chitayat D., van Camp G., Holden J.J.A., Fransen E., Willems P.J.Hum. Mutat. Suppl. 1:S284-S287(1998)
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.Saugier-Veber P., Martin C., le Meur N., Lyonnet S., Munnich A., David A., Henocq A., Heron D., Jonveaux P., Odent S., Manouvrier S., Moncla A., Morichon N., Philip N., Satge D., Tosi M., Frebourg T.3.0.CO;2-A>Hum. Mutat. 12:259-266(1998)
The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.Michaelis R.C., Du Y.-Z., Schwartz C.E.J. Med. Genet. 35:901-904(1998)
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.Finckh U., Schroeder J., Ressler B., Veske A., Gal A.3.0.CO;2-R>Am. J. Med. Genet. 92:40-46(2000)
Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus.Sztriha L., Frossard P., Hofstra R.M., Verlind E., Nork M.J. Child Neurol. 15:239-243(2000)
Hydrocephalus and intestinal aganglionosis
is L1CAM a modifier gene in Hirschsprung disease?Parisi M.A., Kapur R.P., Neilson I., Hofstra R.M.W., Holloway L.W., Michaelis R.C., Leppig K.A.Am. J. Med. Genet. 108:51-56(2002)
X-linked hydrocephalus
a novel missense mutation in the L1CAM gene.Sztriha L., Vos Y.J., Verlind E., Johansen J., Berg B.Pediatr. Neurol. 27:293-296(2002)
Expanding the phenotypic spectrum of L1CAM-associated disease.Basel-Vanagaite L., Straussberg R., Friez M.J., Inbar D., Korenreich L., Shohat M., Schwartz C.E.Clin. Genet. 69:414-419(2006)
A novel missense mutation in the L1CAM gene in a boy with L1 disease.Simonati A., Boaretto F., Vettori A., Dabrilli P., Criscuolo L., Rizzuto N., Mostacciuolo M.L.Neurol. Sci. 27:114-117(2006)
Association of X-linked hydrocephalus and Hirschsprung disease
Report of a new patient with a mutation in the L1CAM gene.Fernandez R.M., Nunez-Torres R., Garcia-Diaz L., de Agustin J.C., Antinolo G., Borrego S.Am. J. Med. Genet. A 158:816-820(2012)
+Additional computationally mapped references.<p>Provides general information on the entry.
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