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

来源：

FEBS LETTERS | 1996年 / 381卷 / 1-2期

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

页码：7 / 11

页数：5

共 15 条

[1] NOTCH SIGNALING
ARTAVANISTSAKONAS, S
MATSUNO, K
FORTINI, ME
[J]. SCIENCE, 1995, 268 (5208) : 225 - 232
[2] EARLY-ONSET ALZHEIMERS-DISEASE CAUSED BY MUTATIONS AT CODON-717 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE
CHARTIERHARLIN, MC
CRAWFORD, F
HOULDEN, H
WARREN, A
HUGHES, D
FIDANI, L
GOATE, A
ROSSOR, M
ROQUES, P
HARDY, J
MULLAN, M
[J]. NATURE, 1991, 353 (6347) : 844 - 846
[3] SINGLE-STEP METHOD OF RNA ISOLATION BY ACID GUANIDINIUM THIOCYANATE PHENOL CHLOROFORM EXTRACTION
CHOMCZYNSKI, P
SACCHI, N
[J]. ANALYTICAL BIOCHEMISTRY, 1987, 162 (01) : 156 - 159
[4] THE STRUCTURE OF THE PRESENILIN-1 (S182) GENE AND IDENTIFICATION OF 6 NOVEL MUTATIONS IN EARLY-ONSET AD FAMILIES
CLARK, RF
HUTTON, M
FULDNER, RA
FROELICH, S
KARRAN, E
TALBOT, C
CROOK, R
LENDON, C
PRIHAR, G
HE, C
KORENBLAT, K
MARTINEZ, A
WRAGG, M
BUSFIELD, F
BEHRENS, MI
MYERS, A
NORTON, J
MORRIS, J
MEHTA, N
PEARSON, C
LINCOLN, S
BAKER, M
DUFF, K
ZEHR, C
PEREZTUR, J
HOULDEN, H
RUIZ, A
OSSA, J
LOPERA, F
ARCOS, M
MADRIGAL, L
COLLINGE, J
HUMPHREYS, C
ASHWORTH, A
SARNER, S
FOX, N
HARVEY, R
KENNEDY, A
ROQUES, P
CLINE, RT
PHILLIPS, CA
VENTER, JC
FORSELL, L
AXELMAN, K
LILIUS, L
JOHNSTON, J
COWBURN, R
VIITANEN, M
WINBLAD, B
KOSIK, K
[J]. NATURE GENETICS, 1995, 11 (02) : 219 - 222
[5] GENE DOSE OF APOLIPOPROTEIN-E TYPE-4 ALLELE AND THE RISK OF ALZHEIMERS-DISEASE IN LATE-ONSET FAMILIES
CORDER, EH
SAUNDERS, AM
STRITTMATTER, WJ
SCHMECHEL, DE
GASKELL, PC
SMALL, GW
ROSES, AD
HAINES, JL
PERICAKVANCE, MA
[J]. SCIENCE, 1993, 261 (5123) : 921 - 923
[6] LACK OF THE CARBOXYL TERMINAL SEQUENCE OF TAU IN GHOST TANGLES OF ALZHEIMERS-DISEASE
ENDOH, R
OGAWARA, M
IWATSUBO, T
NAKANO, I
MORI, H
[J]. BRAIN RESEARCH, 1993, 601 (1-2) : 164 - 172
[7] SEGREGATION OF A MISSENSE MUTATION IN THE AMYLOID PRECURSOR PROTEIN GENE WITH FAMILIAL ALZHEIMERS-DISEASE
GOATE, A
CHARTIERHARLIN, MC
MULLAN, M
BROWN, J
CRAWFORD, F
FIDANI, L
GIUFFRA, L
HAYNES, A
IRVING, N
JAMES, L
MANT, R
NEWTON, P
ROOKE, K
ROQUES, P
TALBOT, C
PERICAKVANCE, M
ROSES, A
WILLIAMSON, R
ROSSOR, M
OWEN, M
HARDY, J
[J]. NATURE, 1991, 349 (6311) : 704 - 706
[8] A LENS INTERCELLULAR JUNCTION PROTEIN, MP26, IS A PHOSPHOPROTEIN
JOHNSON, KR
LAMPE, PD
HUR, KC
LOUIS, CF
JOHNSON, RG
[J]. JOURNAL OF CELL BIOLOGY, 1986, 102 (04) : 1334 - 1343
[9] THE PRECURSOR OF ALZHEIMERS-DISEASE AMYLOID-A4 PROTEIN RESEMBLES A CELL-SURFACE RECEPTOR
KANG, J
LEMAIRE, HG
UNTERBECK, A
SALBAUM, JM
MASTERS, CL
GRZESCHIK, KH
MULTHAUP, G
BEYREUTHER, K
MULLERHILL, B
[J]. NATURE, 1987, 325 (6106) : 733 - 736
[10] FACILITATION OF LIN-12-MEDIATED SIGNALING BY SEL-12, A CAENORHABDITIS-ELEGANS S182 ALZHEIMERS-DISEASE GENE
LEVITAN, D
GREENWALD, I
[J]. NATURE, 1995, 377 (6547) : 351 - 354

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