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Titolo:
Embryonic lethality and vascular defects in mice lacking the Notch ligand JAGGED1
Autore:
Xue, YZ; Gao, X; Lindsell, CE; Norton, CR; Chang, B; Hicks, C; Gendron-Maguire, M; Rand, EB; Weinmaster, G; Gridley, T;
Indirizzi:
Jackson Lab, Bar Harbor, ME 04609 USA Jackson Lab Bar Harbor ME USA 04609Jackson Lab, Bar Harbor, ME 04609 USA Columbia Univ, Dept Biol Sci, New York, NY 10027 USA Columbia Univ New York NY USA 10027 Dept Biol Sci, New York, NY 10027 USA Univ Calif Los Angeles, Sch Med, Dept Biol Chem, Los Angeles, CA 90024 USAUniv Calif Los Angeles Los Angeles CA USA 90024 Los Angeles, CA 90024 USA Univ Penn, Childrens Hosp, Sch Med, Div Gastroenterol & Nutr, Philadelphia, Univ Penn Philadelphia PA USA 19104 v Gastroenterol & Nutr, Philadelphia,
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 5, volume: 8, anno: 1999,
pagine: 723 - 730
SICI:
0964-6906(199905)8:5<723:ELAVDI>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALAGILLE-SYNDROME; DELTA-HOMOLOG; EXPRESSION PATTERNS; MOUSE EMBRYO; GENE; MUTATIONS; DROSOPHILA; FRINGE; SEGMENTATION; ANGIOGENESIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
43
Recensione:
Indirizzi per estratti:
Indirizzo: Gridley, T Jackson Lab, 600 Main St, Bar Harbor, ME 04609 USA Jackson Lab 600 Main St Bar Harbor ME USA 04609 r, ME 04609 USA
Citazione:
Y.Z. Xue et al., "Embryonic lethality and vascular defects in mice lacking the Notch ligand JAGGED1", HUM MOL GEN, 8(5), 1999, pp. 723-730

Abstract

The Notch signaling pathway is an evolutionarily conserved intercellular signaling mechanism essential for embryonic development in mammals. Mutations in the human JAGGED1 (JAG1) gene, which encodes a ligand for the Notch family of transmembrane receptors, cause the autosomal dominant disorder Alagille syndrome. We have examined the in vivo role of the mouse Jag1 gene by creating a null allele through gene targeting. Mice homozygous for the Jag1mutation die from hemorrhage early during embryogenesis, exhibiting defects in remodeling of the embryonic and yolk sac vasculature. We mapped the Jag1 gene to mouse chromosome 2, in the vicinity of the Coloboma (Cm) deletion, Molecular and complementation analyses revealed that the Jag1 gene is functionally deleted in the Cm mutant allele, Mice heterozygous for the Jag1 null allele exhibit an eye dysmorphology similar to that of Cm/+ heterozygotes, but do not exhibit other phenotypes characteristic of Cm/+ mice or of humans with Alagille syndrome, These results establish the phenotype of Cm/ mice as a contiguous gene deletion syndrome and demonstrate that Jag1 is essential for remodeling of the embryonic vasculature.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/07/20 alle ore 13:49:28