Notch signalling pathway and human diseases

被引：159

作者：

Joutel, A ^{[1
]}

Tournier-Lasserve, E ^{[1
]}

机构：

[1] Fac Med Necker, INSERM, U25, F-75730 Paris, France

来源：

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY | 1998年 / 9卷 / 06期

关键词：

T-cell lymphocytes; CADASIL; Alagille syndrome;

D O I：

10.1006/scdb.1998.0261

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Several homologs of the Drosophila Notch receptor and its ligands, Delta/Serrate, have been cloned in man. Three human disorders including a neoplasia (a T-cell acute lymphoblastic leukemia/lymphoma), a late onset neurological disease (CADASIL) and a developmental disorder (the Alagille syndrome) are associated with mutations in, respectively, the Notch1, Notch3 and Jagged1 genes, pointing out the broad spectrum of Notch activity in humans. We report herein on what has been learned on the role of these human Notch genes and the mechanisms leading from mutations in those genes to the observed phenotypes.

引用

收藏

页码：619 / 625

页数：7

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[21] Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia [J].

Joutel, A ;

Corpechot, C ;

Ducros, A ;

Vahedi, K ;

Chabriat, H ;

Mouton, P ;

Alamowitch, S ;

Domenga, V ;

Cecillion, M ;

Marechal, E ;

Maciazek, J ;

Vayssiere, C ;

Cruaud, C ;

Cabanis, EA ;

Ruchoux, MM ;

Weissenbach, J ;

Bach, JF ;

Bousser, MG ;

TournierLasserve, E .

NATURE, 1996, 383 (6602) :707-710

[22] MUTATIONS ALTERING THE STRUCTURE OF EPIDERMAL GROWTH-FACTOR LIKE CODING SEQUENCES AT THE DROSOPHILA NOTCH LOCUS [J].

KELLEY, MR ;

KIDD, S ;

DEUTSCH, WA ;

YOUNG, MW .

CELL, 1987, 51 (04) :539-548

[23] STRUCTURE AND DISTRIBUTION OF THE NOTCH PROTEIN IN DEVELOPING DROSOPHILA [J].

KIDD, S ;

BAYLIES, MK ;

GASIC, GP ;

YOUNG, MW .

GENES & DEVELOPMENT, 1989, 3 (08) :1113-1129

[24] Alagille syndrome [J].

Krantz, ID ;

Piccoli, DA ;

Spinner, NB .

JOURNAL OF MEDICAL GENETICS, 1997, 34 (02) :152-157

[25] Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families [J].

Krantz, ID ;

Colliton, RP ;

Genin, A ;

Rand, EB ;

Li, LH ;

Piccoli, DA ;

Spinner, NB .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (06) :1361-1369

[26] MOTCH-A AND MOTCH-B - 2 MOUSE NOTCH HOMOLOGS COEXPRESSED IN A WIDE VARIETY OF TISSUES [J].

LARDELLI, M ;

LENDAHL, U .

EXPERIMENTAL CELL RESEARCH, 1993, 204 (02) :364-372

[27] THE NOVEL NOTCH HOMOLOG MOUSE NOTCH-3 LACKS SPECIFIC EPIDERMAL GROWTH FACTOR-REPEATS AND IS EXPRESSED IN PROLIFERATING NEUROEPITHELIUM [J].

LARDELLI, M ;

DAHLSTRAND, J ;

LENDAHL, U .

MECHANISMS OF DEVELOPMENT, 1994, 46 (02) :123-136

[28] FACILITATION OF LIN-12-MEDIATED SIGNALING BY SEL-12, A CAENORHABDITIS-ELEGANS S182 ALZHEIMERS-DISEASE GENE [J].

LEVITAN, D ;

GREENWALD, I .

NATURE, 1995, 377 (6547) :351-354

[29] Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1 [J].

Li, LH ;

Krantz, ID ;

Deng, Y ;

Genin, A ;

Banta, AB ;

Collins, CC ;

Qi, M ;

Trask, BJ ;

Kuo, WL ;

Cochran, J ;

Costa, T ;

Pierpont, MEM ;

Rand, EB ;

Piccoli, DA ;

Hood, L ;

Spinner, NB .

NATURE GENETICS, 1997, 16 (03) :243-251

[30] The human homolog of rat Jagged1 expressed by marrow stroma inhibits differentiation of 32D cells through interaction with Notch1 [J].

Li, LH ;

Milner, LA ;

Deng, Y ;

Iwata, M ;

Banta, A ;

Graf, L ;

Marcovina, S ;

Friedman, C ;

Trask, BJ ;

Hood, L ;

Torok-Storb, B .

IMMUNITY, 1998, 8 (01) :43-55

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