title: Exon 2 of the gene for neural cell adhesion molecule L1 is alternatively spliced in B cells.
abstract: L1CAM is a neural cell adhesion molecule expressed mainly on neurones' cell surface and plays an important role in the developing fetal brain. Recently, we have shown that mutations in the gene encoding L1CAM are responsible for three related neurological disorders including the most common form of inherited hydrocephalus. During our genetic analysis, we have discovered that L1CAM is also expressed on the surface of B cells but that the messenger RNA in this tissue is different to that in brain through alternative splicing of the L1 gene. This indicates that this region of the L1 molecule has a distinct role in brain cells compared to B lymphocytes and confirms its importance in brain development.
authors.affiliation: Department of Medicine, Addenbrooke's Hospital, Cambridge, England.
authors.forename: M
authors.initials: M
authors.lastname: Jouet
authors.forename: A
authors.initials: A
authors.lastname: Rosenthal
authors.forename: S
authors.initials: S
authors.lastname: Kenwrick
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D000818:Animals; D001402:B-Lymphocytes / Q000378:metabolism; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D002448:Cell Adhesion / Q000235:genetics*; D018076:DNA, Complementary; D005091:Exons / Q000235:genetics*; D015870:Gene Expression; D006801:Humans; D008214:Lymphocytes; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D013154:Spleen / Q000378:metabolism
chemical_list: D018076:DNA, Complementary