Journal ArticleDOI
The human PAX6 gene is mutated in two patients with aniridia.
Tim Jordan,Isabel M. Hanson,Dmitri Zaletayev,Shirley Hodgson,Jane Prosser,Anne Seawright,Nicholas D. Hastie,Veronica van Heyningen +7 more
TLDR
Mutations in the Pax–6 gene are described in two cases of sporadic aniridia, one detected at the DNA level and one at the RNA level, both of which are predicted to affect protein function.Abstract:
Aniridia is an inherited ocular disorder of variable expressivity characterized by iris hypoplasia. A candidate aniridia gene, AN, which is the human homologue of the mouse Pax-6 gene, has recently been isolated by positional cloning from the WAGR region of 11p13. Here we describe mutations in this gene in two cases of sporadic aniridia, one detected at the DNA level and one at the RNA level, both of which are predicted to affect protein function. Mutations in Pax-6 have been described previously in Small eye, the proposed mouse model for aniridia. We present new phenotypic evidence for the validity of this mouse model.read more
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Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans
TL;DR: The finding that ey of Drosophila, Small eye of the mouse, and human Aniridia are encoded by homologous genes suggests that eye morphogenesis is under similar genetic control in both vertebrates and insects, in spite of the large differences in eye morphology and mode of development.
Journal ArticleDOI
Transcriptional Regulatory Elements in the Human Genome
TL;DR: The methods currently used to identify transcriptional regulatory elements are discussed, and the ability of these methods to be scaled up for the purpose of annotating the entire human genome is discussed.
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Complete block of early B cell differentiation and altered patterning of the posterior midbrain in mice lacking Pax5/BSAP
TL;DR: A key role for Pax5 is defined in early B lymphopoiesis and midbrain patterning and all mutants failed to produce small pre-B, B, and plasma cells owing to a complete arrest of B cell development at an early precursor stage.
Journal ArticleDOI
A Mouse Model of Greig Cephalopolysyndactyly Syndrome: The extra-toesJ Mutation Contains an Intragenic Deletion of the Gli3 Gene
TL;DR: The molecular characterization of extra–toes (Xt), which is a mouse model of GCPS, shows that a deficiency of Gli3 expression in the XtJ mutant is due to a deletion within the 3′ end of the gene.
Journal ArticleDOI
The role of Pax-6 in eye and nasal development
TL;DR: Analysis of patterns of programmed cell death and absence of nasal region expression from an Msx-1 transgene in Sey/Sey embryos suggest a requirement for Pax-6 in the transition from presumptive nasal ectoderm to placode, and that Msx -1, or genes regulating it, are possible targets for Pax -6.
References
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Journal ArticleDOI
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
TL;DR: A new method of total RNA isolation by a single extraction with an acid guanidinium thiocyanate-phenol-chloroform mixture is described, providing a pure preparation of undegraded RNA in high yield and can be completed within 4 h.
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“Gray's Anatomy”
TL;DR: The comparison, made by Dr. W. D. Jeans in your last issue*, of Gray's Anatomy with the latest revision of its American offspring is an interesting exercise; but his conclusion that the original is a ‘better buy’, though pleasing to the producers of the “British” Gray’s Anatomy, is based upon the false premise that a second version is necessary.
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'Touchdown' PCR to circumvent spurious priming during gene amplification
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Pax-6, a murine paired box gene, is expressed in the developing CNS.
Claudia Walther,Peter Gruss +1 more
TL;DR: The expression pattern of Pax-6 during embryogenesis and the isolation of cDNA clones spanning the entire coding region are described and, in addition to the paired domain, a paired-type homeodomain is contained.
Journal ArticleDOI
Mouse small eye results from mutations in a paired-like homeobox-containing gene.
Robert E. Hill,Jack Favor,Brigid L.M. Hogan,Carl C. T. Ton,Grady F. Saunders,Isabel M. Hanson,Jane Prosser,Tim Jordan,Nicholas D. Hastie,Veronica van Heyningen +9 more
TL;DR: Analysis of three independent Sey alleles is reported and it is shown that indeed this gene is mutated and that the mutations would predictably interrupt gene function.