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Titolo:
Transgenic rescue of congenital heart disease and spina bifida in Splotch mice
Autore:
Li, J; Liu, KC; Jin, FZ; Lu, MM; Epstein, JA;
Indirizzi:
Univ Penn, Dept Med, Div Cardiovasc, Philadelphia, PA 19104 USA Univ PennPhiladelphia PA USA 19104 ardiovasc, Philadelphia, PA 19104 USA Univ Penn, Dept Cell & Dev Biol, Philadelphia, PA 19104 USA Univ Penn Philadelphia PA USA 19104 Dev Biol, Philadelphia, PA 19104 USA Univ Penn, Penn Muscle Inst, Philadelphia, PA 19104 USA Univ Penn Philadelphia PA USA 19104 scle Inst, Philadelphia, PA 19104 USA
Titolo Testata:
DEVELOPMENT
fascicolo: 11, volume: 126, anno: 1999,
pagine: 2495 - 2503
SICI:
0950-1991(199906)126:11<2495:TROCHD>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEURAL-TUBE DEFECTS; TUMOR ALVEOLAR RHABDOMYOSARCOMA; PERSISTENT TRUNCUS ARTERIOSUS; MUSCLE PROGENITOR CELLS; PAX6 GENE DOSAGE; SYNDROME TYPE-I; WAARDENBURG-SYNDROME; CREST CELLS; CARDIOVASCULAR DEVELOPMENT; MET RECEPTOR;
Keywords:
transgenic mice; congenital heart disease; persistent truncus arteriosus; neural tube defects; spina bifida; epaxial muscle; hypaxial muscle; diaphragm; neural crest;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
54
Recensione:
Indirizzi per estratti:
Indirizzo: Epstein, JA Univ Penn, Dept Med, Div Cardiovasc, Philadelphia, PA 19104 USA Univ Penn Philadelphia PA USA 19104 hiladelphia, PA 19104 USA
Citazione:
J. Li et al., "Transgenic rescue of congenital heart disease and spina bifida in Splotch mice", DEVELOPMENT, 126(11), 1999, pp. 2495-2503

Abstract

Pax3-deficient Splotch mice display neural tube defects and an array of neural crest related abnormalities including defects in the cardiac outflow tract, dorsal root ganglia and pigmentation. Pax3 is expressed in neural crest cells that emerge from the dorsal neural tube. Pax3 is also expressed inthe somites, through which neural crest cells migrate, where it is required for hypaxial muscle development. Homozygous mutant Splotch embryos die byembryonic day 14, We have utilized the proximal 1.6 kb Pax3 promoter and upstream regulatory elements to engineer transgenic mice reproducing endogenous Pax3 expression in neural tube and neural crest, but not the somite. Over expression of Pax3 in these tissues reveals no discernible phenotype, Breeding of transgenic mice onto a Splotch background demonstrates that neural tube and neural crest expression of Pax3 is sufficient to rescue neural tube closure, cardiac development and other neural crest related defects. Transgenic Splotch mice survive until birth at which time they succumb to respiratory failure secondary to absence of a muscular diaphragm. Limb musclesare also absent. These results indicate that regulatory elements sufficient for functional expression of Pax3 required for cardiac development and neural tube closure are contained within the region 1.6 kb upstream of the Pax3 transcriptional start site. In addition, the single Pax3 isoform used for this transgene is sufficient to execute these developmental processes. Although the extracellular matrix and the environment of the somites through which neural crest migrates is known to influence neural crest behavior, our results indicate that Pax3-deficient somites are capable of supporting proper neural crest migration and function suggesting a cell autonomous role for Pax3 in neural crest.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/09/20 alle ore 21:45:27