title: Identification and characterization of presenilin I-467, I-463 and I-374.
abstract: We cloned a novel isoform of presenilin I (presenilin I-374) besides previously published presenilin I-467 and I-463 in human lymphocytes. Presenilin I-463 was identical to presenilin I-467 except a 12 bp nucleotides deletion in its amino terminal region. Another isoform, presenilin I-374 was produced by an alternative splicing with an additional exon consisting of 92 bp nucleotides (exon 11), which resulted in the frame shift with a stop codon to generate a truncated presenilin consisting of 374 amino acids. The transcripts for presenilin I-467/463 was ubiquitously detected while that for presenilin I-374 was selectively detected in liver, spleen, kidney. Abnormal behavior of presenilin I on gel electrophoresis was found with affinity-purified antibodies against presenilin I.
authors.affiliation: Department of Molecular Biology, Tokyo Institute of Psychiatry, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Sahara
authors.forename: Y
authors.initials: Y
authors.lastname: Yahagi
authors.forename: H
authors.initials: H
authors.lastname: Takagi
authors.forename: T
authors.initials: T
authors.lastname: Kondo
authors.forename: M
authors.initials: M
authors.lastname: Okochi
authors.forename: M
authors.initials: M
authors.lastname: Usami
authors.forename: T
authors.initials: T
authors.lastname: Shirasawa
authors.forename: H
authors.initials: H
authors.lastname: Mori
mesh_terms: D000544:Alzheimer Disease / Q000378:metabolism; D000595:Amino Acid Sequence; D000906:Antibodies; D001483:Base Sequence; D001921:Brain / Q000378:metabolism*; D003001:Cloning, Molecular; D017931:DNA Primers; D018076:DNA, Complementary; D005091:Exons; D006801:Humans; D007668:Kidney / Q000378:metabolism; D007962:Leukocytes / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D008565:Membrane Proteins / Q000096:biosynthesis* / Q000737:chemistry; D008969:Molecular Sequence Data; D009928:Organ Specificity; D010446:Peptide Fragments / Q000138:chemical synthesis / Q000276:immunology; D016133:Polymerase Chain Reaction; D053764:Presenilin-1; D014176:Protein Biosynthesis; D011994:Recombinant Proteins / Q000096:biosynthesis; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid; D013154:Spleen / Q000378:metabolism; D014158:Transcription, Genetic
chemical_list: D000906:Antibodies; D017931:DNA Primers; D018076:DNA, Complementary; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D010446:Peptide Fragments; D053764:Presenilin-1; D011994:Recombinant Proteins