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Titolo:
Mouse mutant "rib-vertebrae" (rv): A defect in somite polarity
Autore:
Nacke, S; Schafer, R; De Angelis, MH; Mundlos, S;
Indirizzi:
Univ Kinderklin Mainz, D-55101 Mainz, Germany Univ Kinderklin Mainz Mainz Germany D-55101 ainz, D-55101 Mainz, Germany GSF, Inst Expt Genet, Neuherberg, Germany GSF Neuherberg GermanyGSF, Inst Expt Genet, Neuherberg, Germany
Titolo Testata:
DEVELOPMENTAL DYNAMICS
fascicolo: 2, volume: 219, anno: 2000,
pagine: 192 - 200
SICI:
1058-8388(200010)219:2<192:MM"(AD>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
LUNATIC FRINGE; DELTA-HOMOLOG; SEGMENTATION DEFECTS; BOUNDARY FORMATION; SONIC HEDGEHOG; GENE; EXPRESSION; NOTCH; SOMITOGENESIS; INITIATION;
Keywords:
rib-vertebrae; axial skeleton; somite; Notch-Delta; urogenital malformation; chromosome 7;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Mundlos, S Univ Kinderklin Mainz, Langenbeckstr 1, D-55101 Mainz, Germany Univ Kinderklin Mainz Langenbeckstr 1 Mainz Germany D-55101 ny
Citazione:
S. Nacke et al., "Mouse mutant "rib-vertebrae" (rv): A defect in somite polarity", DEV DYNAM, 219(2), 2000, pp. 192-200

Abstract

The recessive mouse mutant rib-vertebrae (rv) affects the morphogenesis ofthe axial skeleton. The phenotype is characterized by vertebral defects such as fusion of adjacent segments, hemivertebrae, or open neural arches andrib defects including fusions, forked ribs, and additional ribs. We have analyzed this mutant in detail and are able to show that defective somite patterning underlies the vertebral malformations. The rv mutation leads to anelongation of the presomitic mesoderm and a disruption of the anterior-posterior polarization of somites, as indicated by the abnormal expression of Pax1 and Mox1. Somites are irregular in size but the overall formation of somites appears unaffected. These changes are reminiscent of somite defects obtained in loss of function alleles of the Delta-Notch pathway. Expressionof the Notch pathway components Delta-like-1 (Dll1) and lunatic fringe (Lfng) are altered in rv mutants. To investigate possible interactions of rv with components of the Notch pathway, we crossed rv into Dll1(lacZ). Double heterozygous (rv/+; Dll1(lacZ)/+) mice show vertebral defects and homozygous animals with one inactive Dll1 allele (rv/rv; Dll1(lacZ)/+) exhibit a dramatic increase in phenotypic severity, indicating that rv and Dll1 genetically interact. We have mapped ru to a region on chromosome 7 that is syntenic to human chromosomes 11p, 10q, and 11p. rv is phenotypically similar to human vertebral malformations syndromes and can serve as a model for these conditions. (C) 2000 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/07/20 alle ore 02:52:21