Cloning of a Novel Human Neural Cell Adhesion Molecule Gene (NCAM2) That Maps to Chromosome Region 21q21 and Is Potentially Involved in Down Syndrome
Copyright policy )Cloning of a Novel Human Neural Cell Adhesion Molecule Gene (NCAM2) That Maps to Chromosome Region 21q21 and Is Potentially Involved in Down Syndrome
To contribute to the development of the transcription map of human chromosome 21 (HC21), we have used exon trapping to identify portions of HC21 genes. One trapped exon showed strong homology with members of the neural cell adhesion molecule (NCAM) family of genes from different species. We subsequently cloned the complete coding sequence from a human fetal brain cDNA library and determined its nucleotide sequence and predicted amino acid sequence. The predicted polypeptide of this novel NCAM2 gene contains 837 amino acids and shows 62% similarity to the NCAM homologs. It contains five immunoglobulin-like domains, two fibronectin type III domains, a transmembrane domain and a cytoplasmic domain. The gene is expressed most strongly in human adult and fetal brain. Using somatic cell hybrids, we mapped NCAM2 to 21q21, between markers D21S18 and D21S282. Radiation hybrid mapping localized this novel gene between polymorphic markers D21S1914 and D21S265. NCAMs are members of the immunoglobulin superfamily and are essential in the formation and maintenance of tissue structure. To date there are no candidate human disorders on HC21 that could be associated with mutations in NCAM2. In addition, the role of NCAM2 in the pathophysiology of Down syndrome is unknown. However, it is a good candidate for involvement in certain Down syndrome phenotypes because a slight overexpression of NCAMs increases many-fold the homotypic adhesion properties of cells.
- University of Geneva Switzerland
- Geneva College United States
576.5, Adult, Genetic Markers, DNA, Complementary, Chromosomes, Human, Pair 21, Molecular Sequence Data, Gene Expression, Neural Cell Adhesion Molecule L1, Polymerase Chain Reaction, Fetus, Species Specificity, 616, Brain/metabolism, Animals, Humans, Amino Acid Sequence, Cloning, Molecular, Neural Cell Adhesion Molecules, DNA Primers, DNA Primers/genetics, Sequence Homology, Amino Acid, Base Sequence, Fetus/metabolism, Brain, Chromosome Mapping, DNA, Complementary/genetics, Exons, Chromosomes, Human, Pair 21/ genetics, Phenotype, Down Syndrome/etiology/ genetics, Neural Cell Adhesion Molecules/ genetics, Down Syndrome, ddc: ddc:616
576.5, Adult, Genetic Markers, DNA, Complementary, Chromosomes, Human, Pair 21, Molecular Sequence Data, Gene Expression, Neural Cell Adhesion Molecule L1, Polymerase Chain Reaction, Fetus, Species Specificity, 616, Brain/metabolism, Animals, Humans, Amino Acid Sequence, Cloning, Molecular, Neural Cell Adhesion Molecules, DNA Primers, DNA Primers/genetics, Sequence Homology, Amino Acid, Base Sequence, Fetus/metabolism, Brain, Chromosome Mapping, DNA, Complementary/genetics, Exons, Chromosomes, Human, Pair 21/ genetics, Phenotype, Down Syndrome/etiology/ genetics, Neural Cell Adhesion Molecules/ genetics, Down Syndrome, ddc: ddc:616
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