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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[11] PRIMARY NEUROGENESIS IN XENOPUS EMBRYOS REGULATED BY A HOMOLOG OF THE DROSOPHILA NEUROGENIC GENE-DELTA [J].

CHITNIS, A ;

HENRIQUE, D ;

LEWIS, J ;

ISHHOROWICZ, D ;

KINTNER, C .

NATURE, 1995, 375 (6534) :761-766

[12] CELL-AUTONOMOUS ROLE OF NOTCH, AN EPIDERMAL GROWTH-FACTOR HOMOLOG, IN SENSORY ORGAN DIFFERENTIATION IN DROSOPHILA [J].

DECELIS, JF ;

MARIBEFFA, M ;

GARCIABELLIDO, A .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (02) :632-636

[13]

Dunwoodie SL, 1997, DEVELOPMENT, V124, P3065

[14] TAN-1, THE HUMAN HOMOLOG OF THE DROSOPHILA NOTCH GENE, IS BROKEN BY CHROMOSOMAL TRANSLOCATIONS IN T-LYMPHOBLASTIC NEOPLASMS [J].

ELLISEN, LW ;

BIRD, J ;

WEST, DC ;

SORENG, AL ;

REYNOLDS, TC ;

SMITH, SD ;

SKLAR, J .

CELL, 1991, 66 (04) :649-661

[15]

Fitzgerald K, 1995, DEVELOPMENT, V121, P4275

[16] Frequent provirus insertional mutagenesis of Notch1 in thymomas of MMTV(D)/myc transgenic mice suggests a collaboration of c-myc and Notch1 for oncogenesis [J].

Girard, L ;

Hanna, Z ;

Beaulieu, N ;

Hoemann, CD ;

Simard, C ;

Kozak, CA ;

Jolicoeur, P .

GENES & DEVELOPMENT, 1996, 10 (15) :1930-1944

[17]

Haddon C, 1998, DEVELOPMENT, V125, P359

[18] Modulated expression of NOTCH1 during thymocyte development [J].

Hasserjian, RP ;

Aster, JC ;

Davi, F ;

Weinberg, DS ;

Sklar, J .

BLOOD, 1996, 88 (03) :970-976

[19]

Jen WC, 1997, DEVELOPMENT, V124, P1169

[20] Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients [J].

Joutel, A ;

Vahedi, K ;

Corpechot, C ;

Troesch, A ;

Chabriat, H ;

Vayssiere, C ;

Cruaud, C ;

Maciazek, J ;

Weissenbach, J ;

Bousser, MG ;

Bach, JF ;

TournierLasserve, E .

LANCET, 1997, 350 (9090) :1511-1515

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