NDLI: An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome.

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An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome.

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An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Frank, Deborah U. Fotheringham, Lori K. Brewer, Judson A. Muglia, Louis J. Tristani-Firouzi, Martin Capecchi, Mario R. Moon, Anne M.
Description	Country affiliation: United States Author Affiliation: Frank DU ( Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.)
Abstract	Deletion of chromosome 22q11, the most common microdeletion detected in humans, is associated with a life-threatening array of birth defects. Although 90% of affected individuals share the same three megabase deletion, their phenotype is highly variable and includes craniofacial and cardiovascular anomalies, hypoplasia or aplasia of the thymus with associated deficiency of T cells, hypocalcemia with hypoplasia or aplasia of the parathyroids, and a variety of central nervous system abnormalities. Because ablation of neural crest in chicks produces many features of the deletion 22q11 syndrome, it has been proposed that haploinsufficiency in this region impacts neural crest function during cardiac and pharyngeal arch development. Few factors required for migration, survival, proliferation and subsequent differentiation of pharyngeal arch neural crest and mesoderm-derived mesenchyme into their respective cardiovascular, musculoskeletal, and glandular derivatives have been identified. However, the importance of epithelial-mesenchymal interactions and pharyngeal endoderm function is becoming increasingly clear. Fibroblast growth factor 8 is a signaling molecule expressed in the ectoderm and endoderm of the developing pharyngeal arches and known to play an important role in survival and patterning of first arch tissues. We demonstrate a dosage-sensitive requirement for FGF8 during development of pharyngeal arch, pharyngeal pouch and neural crest-derived tissues. We show that FGF8 deficient embryos have lethal malformations of the cardiac outflow tract, great vessels and heart due, at least in part, to failure to form the fourth pharyngeal arch arteries, altered expression of Fgf10 in the pharyngeal mesenchyme, and abnormal apoptosis in pharyngeal and cardiac neural crest. The Fgf8 mutants described herein display the complete array of cardiovascular, glandular and craniofacial phenotypes seen in human deletion 22q11 syndromes. This represents the first single gene disruption outside the typically deleted region of human chromosome 22 to fully recapitulate the deletion 22q11 phenotype. FGF8 may operate directly in molecular pathways affected by deletions in 22q11 or function in parallel pathways required for normal development of pharyngeal arch and neural crest-derived tissues. In either case, Fgf8 may function as a modifier of the 22q11 deletion and contribute to the phenotypic variability of this syndrome.
File Format	HTM / HTML
ISSN	09501991
e-ISSN	14779129
Journal	Development
Issue Number	19
Volume Number	129
Language	English
Publisher	The Company of Biologists
Publisher Date	2002-10-01
Publisher Place	Great Britain (UK)
Access Restriction	Open
Subject Keyword	Discipline Developmental Discipline Biology Abnormalities, Multiple Metabolism Chromosome Deletion Chromosomes, Human, Pair 22 Fibroblast Growth Factors Physiology Genetics Alleles Animals Apoptosis Branchial Region Cytology Fibroblast Growth Factor 8 Heart Defects, Congenital Mice Mice, Inbred C57bl Mice, Knockout Mice, Mutant Strains Neural Crest Parathyroid Glands Abnormalities Embryology Rna, Messenger Syndrome T-lymphocytes Thymus Gland Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s.
Content Type	Text
Resource Type	Article
Subject	Developmental Biology Molecular Biology

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An Fgf8 Mouse Mutant Phenocopies Human 22q11 Deletion Syndrome

An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome

Ablation of specific expression domains reveals discrete functions of ectoderm- and endoderm-derived FGF8 during cardiovascular and pharyngeal development.

Clinical features of 78 adults with 22q11 Deletion Syndrome.

A comprehensive analysis of 22q11 gene expression in the developing and adult brain.

Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.

Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.

Co-occurrence of 22q11 deletion syndrome and HDR syndrome.

Lower prepulse inhibition in children with the 22q11 deletion syndrome.

An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome.

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An Fgf8 Mouse Mutant Phenocopies Human 22q11 Deletion Syndrome

An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome

Ablation of specific expression domains reveals discrete functions of ectoderm- and endoderm-derived FGF8 during cardiovascular and pharyngeal development.

Clinical features of 78 adults with 22q11 Deletion Syndrome.

A comprehensive analysis of 22q11 gene expression in the developing and adult brain.

Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.

Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.

Co-occurrence of 22q11 deletion syndrome and HDR syndrome.

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An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome.