title: Exon/intron organization, chromosome localization, alternative splicing, and transcription units of the human apolipoprotein E receptor 2 gene.
abstract: Apolipoprotein E receptor 2 is a recently identified receptor that resembles low and very low density lipoprotein receptors. Isolation and characterization of genomic clones encoding human apolipoprotein E receptor 2 revealed that the gene spans approximately 60 kilobases and contains 19 exons. The positions of the exon/intron boundaries of the gene are almost identical to those of low and very low density lipoprotein receptors. Fluorescent in situ hybridization of human chromosomes revealed that the gene is located on chromosome 1p34. Isolation of a cDNA encoding a variant receptor and reverse transcription-polymerase chain reaction indicate the presence of multiple variants with different numbers of cysteine-rich repeats in the binding domain of the receptor. We also found a variant receptor lacking a 59-amino acid insertion in the cytoplasmic domain. The transcription start site was mapped to the position 236 base pairs upstream of the AUG translation initiator codon by primer extension analysis. Sequence inspection of the 5'-flanking region revealed potential DNA elements: AP-2, GC factor, PEA3, and Sp1. The minimal promoter region and a region required for nerve growth factor inducibility in PC12 cells were also determined.
authors.affiliation: Tohoku University Gene Research Center, Sendai 981, Japan.
authors.forename: D H
authors.initials: DH
authors.lastname: Kim
authors.forename: K
authors.initials: K
authors.lastname: Magoori
authors.forename: T R
authors.initials: TR
authors.lastname: Inoue
authors.forename: C C
authors.initials: CC
authors.lastname: Mao
authors.forename: H J
authors.initials: HJ
authors.lastname: Kim
authors.forename: H
authors.initials: H
authors.lastname: Suzuki
authors.forename: T
authors.initials: T
authors.lastname: Fujita
authors.forename: Y
authors.initials: Y
authors.lastname: Endo
authors.forename: S
authors.initials: S
authors.lastname: Saeki
authors.forename: T T
authors.initials: TT
authors.lastname: Yamamoto
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001053:Apolipoproteins / Q000235:genetics*; D001483:Base Sequence; D002874:Chromosome Mapping; D006224:Cricetinae; D003412:Cricetulus; D005091:Exons; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns; D026502:LDL-Receptor Related Proteins; D026503:Low Density Lipoprotein Receptor-Related Protein-1; D008969:Molecular Sequence Data; D018110:Receptors, Lipoprotein / Q000235:genetics*
chemical_list: D001053:Apolipoproteins; D026502:LDL-Receptor Related Proteins; D026503:Low Density Lipoprotein Receptor-Related Protein-1; D018110:Receptors, Lipoprotein; C098773:low density lipoprotein receptor-related protein 8