Identification and characterization of presenilin I-467, I-463 and I-374

被引:46
作者
Sahara, N
Yahagi, Y
Takagi, H
Kondo, T
Okochi, M
Usami, M
Shirasawa, T
Mori, H
机构
[1] TOKYO INST PSYCHIAT,DEPT BIOL MOLEC,SETAGAYA KU,TOKYO 156,JAPAN
[2] TOKYO METROPOLITAN INST GERONTOL,DEPT MOLEC PATHOL,ITABASHI KU,TOKYO 173,JAPAN
关键词
Alzheimer's disease; chromosome; 14; presenilin; splicing; exon; 11; PRECURSOR PROTEIN GENE; ALZHEIMERS-DISEASE; MUTATION;
D O I
10.1016/0014-5793(96)00054-3
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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-4671463 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.
引用
收藏
页码:7 / 11
页数:5
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