title: Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation.
abstract: In search of the gene for progressive epilepsy with mental retardation (EPMR) we identified DLGAP2, the human homolog of the gene encoding the rat PSD-95/SAP90-associated protein-2 (Dlgap2). We extended the transcript in both the 5' and 3' directions and characterised the genomic structure of the approximately 10 kb gene. Sequence comparisons of human DLGAP2 cDNA sequences obtained from human testis and brain cDNA libraries with homologous rat genes suggest alternative splicing in the 5' end of the gene. The 5' coding sequence of the testis cDNA is complete, whereas based on homology with the rat gene 103 bp of coding sequence may still be missing in the 5' end of the DLGAP2 brain transcript. DLGAP2 was excluded as the gene responsible for EPMR.
authors.affiliation: Folkhälsan Institute of Genetics, and Department of Medical Genetics, University of Helsinki, Finland. susanna.ranta@helsinki.fi
authors.forename: S
authors.initials: S
authors.lastname: Ranta
authors.forename: Y
authors.initials: Y
authors.lastname: Zhang
authors.forename: B
authors.initials: B
authors.lastname: Ross
authors.forename: E
authors.initials: E
authors.lastname: Takkunen
authors.forename: A
authors.initials: A
authors.lastname: Hirvasniemi
authors.forename: A
authors.initials: A
authors.lastname: de la Chapelle
authors.forename: T C
authors.initials: TC
authors.lastname: Gilliam
authors.forename: A E
authors.initials: AE
authors.lastname: Lehesjoki
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000032:analysis; D004827:Epilepsy / Q000235:genetics*; D015894:Genome, Human; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree
chemical_list: C413124:DLGAP2 protein, human; D018076:DNA, Complementary; D009419:Nerve Tissue Proteins