title: In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules.
abstract: To discover genes contributing to mental retardation in 3p- syndrome patients we have used in silico searches for neural genes in NCBI databases (dbEST and Uni-Gene). An EST with strong homology to the rat CAM L1 gene subsequently mapped to 3p26 was used to isolate a full-length cDNA. Molecular analysis of this cDNA, referred to as CALL (cell adhesion L1-like), showed that it is encoded by a chromosome 3p26 locus and is a novel member of the L1 gene family of neural cell adhesion molecules. Multiple lines of evidence suggest CALL is likely the human ortholog of the murine gene CHL1: it is 84% identical on the protein level, has the same domain structure, same membrane topology, and a similar expression pattern. The orthology of CALL and CHL1 was confirmed by phylogenetic analysis. By in situ hybridization, CALL is shown to be expressed regionally in a timely fashion in the central nervous system, spinal cord, and peripheral nervous system during rat development. Northern analysis and EST representation reveal that it is expressed in the brain and also outside the nervous system in some adult human tissues and tumor cell lines. The cytoplasmic domain of CALL is conserved among other members of the L1 subfamily and features sequence motifs that may involve CALL in signal transduction pathways.
authors.affiliation: Intramural Research Support Program, SAIC Frederick, National Cancer Institute-Frederick Cancer Research and Development Center, MD 21702-1201, USA.
authors.forename: M H
authors.initials: MH
authors.lastname: Wei
authors.forename: I
authors.initials: I
authors.lastname: Karavanova
authors.forename: S V
authors.initials: SV
authors.lastname: Ivanov
authors.forename: N C
authors.initials: NC
authors.lastname: Popescu
authors.forename: C L
authors.initials: CL
authors.lastname: Keck
authors.forename: S
authors.initials: S
authors.lastname: Pack
authors.forename: J A
authors.initials: JA
authors.lastname: Eisen
authors.forename: M I
authors.initials: MI
authors.lastname: Lerman
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D003001:Cloning, Molecular; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins / Q000737:chemistry*; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000737:chemistry*; D019006:Neural Cell Adhesion Molecules / Q000737:chemistry*; D010802:Phylogeny; D012333:RNA, Messenger / Q000378:metabolism; D051381:Rats; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid
chemical_list: D005819:Genetic Markers; D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D019006:Neural Cell Adhesion Molecules; D012333:RNA, Messenger