PAX6 in sensory development

Human Molecular Genetics

Volumn 11, Issue 10, 2002, Pages 1161-1167

  van Heyningen, Veronica ^a   Williamson, Kathleen A ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; REGULATOR PROTEIN; TRANSCRIPTION FACTOR PAX6; EYE PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; REPRESSOR PROTEIN;

ANIRIDIA; CEREBELLUM; CONTROLLED STUDY; DOWNSTREAM PROCESSING; DROSOPHILA; EVOLUTION; EYE DEVELOPMENT; FOREBRAIN; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENE TARGETING; GENETIC CONSERVATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOTE; NONHUMAN; OLFACTORY SYSTEM; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SENSORY SYSTEM; TISSUE SPECIFICITY; AMINO ACID SEQUENCE; ANIMAL; DNA SEQUENCE; EYE; GENE EXPRESSION REGULATION; GENETICS; HUMAN; MOLECULAR GENETICS; MOUSE; MUTATION; PHYSIOLOGY; PRENATAL DEVELOPMENT;

DROSOPHILA; INSECTA;

AMINO ACID SEQUENCE; ANIMALS; ANIRIDIA; EVOLUTION; EYE; EYE PROTEINS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; OLFACTORY PATHWAYS; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; REPRESSOR PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 0037092593     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.10.1161     Document Type: Review

References (83)

1. Pax: A murine multigene family of paired box-containing genes
2. Getting your Pax straight: Pax proteins in development and disease
3. Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region
4. PAX-6 in development and evolution
5. Pax 6: Mastering eye morphogenesis and eye evolution
6. Mouse small eye results from mutations in a paired-like homeobox-containing gene
7. Molecular characterization of Pax6(2Neu) through Pax6(10Neu). An extension of the pax6 allelic series and the identification of two possible hypomorph alleles in the mouse mus musculus
8. Novel ENU-induced eye mutations in the mouse: Models for human eye disease
9. A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells
10. Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans
11. Genetic control of development of the mushroom bodies, the associative learning centers in the Drosophila brain, by the eyeless, twin of eyeless, and Dachshund genes
12. Drosophila Pax-6/eyeless is essential for normal adult brain structure and function
13. Patterning of the Caenorhabditis elegans head region by the Pax-6 family member vab-3
14. Specification of sense-organ identity by a Caenorhabditis elegans Pax-6 homologue
15. Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eye
16. Pax6 is required for the multipotent state of retinal progenitor cells
17. A highly conserved lens transcriptional control element from the Pax-6 gene
18. Distinct cis-essential modules direct the time-space pattern of the Pax6 gene activity
19. Spatial specification of mammalian eye territories by reciprocal transcriptional repression of Pax2 and Pax6
20. Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6
21. The upstream ectoderm enhancer in Pax6 has an important role in lens induction
22. New 3′ elements control Pax6 expression in the developing pretectum, neural retina and olfactory region
23. Functional analysis of an eye specific enhancer of the eyeless gene in Drosophila
24. Twin of eyeless, a second Pax-6 gene of Drosophila, acts upstream of eyeless in the control of eye development
25. Eyeless initiates the expression of both sine oculis and eyes absent during Drosophila compound eye development
26. EGF receptor and Notch signaling act upstream of Eyeless/Pax6 to control eye specification
27. Pax-6, a murine paired box gene, is expressed in the developing CNS
28. Lune/eye gone, a Pax-like protein, uses a partial paired domain and a homeodomain for DNA recognition
29. Zebrafish contains two pax6 genes involved in eye development
30. Pax6 lights-up the way for eye development
31. Quantitation of PAX6 and PAX6(5a) transcript levels in adult human lens, cornea, and monkey retina
32. Pax-6 expression and activity are induced in the reepithelializing cornea and control activity of the transcriptional promoter for matrix metalloproteinase gelatinase B
33. Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas
34. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
35. Influence of PAX6 gene dosage on development: Overexpression causes severe eye abnormalities
36. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations
37. PAX6 missense mutation in isolated foveal hypoplasia
38. Ten novel mutations found in Aniridia
39. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
40. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
41. An exonic splicing enhancer in human IGF-I pre-mRNA mediates recognition of alternative exon 5 by the serine-arginine protein splicing factor-2/alternative splicing factor
42. Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing
43. PAX6 mutations in aniridia
44. Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype
45. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: Investigation of genetic aetiology
46. The eyeless homeodomain is dispensable for eye development in Drosophila
47. Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies
48. Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function
49. Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia
50. PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans
51. Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia
52. Psychiatric disorder and cognitive function in a family with an inherited novel mutation of the developmental control gene PAX6
53. Identification and characterization of a neuroretina-specific enhancer element in the quail Pax-6 (Pax-QNR) gene
54. Regulation of Pax6 expression is conserved between mice and flies
55. A highly conserved lens transcriptional control element from the Pax-6 gene
56. Position effect in human genetic disease
57. 3′ deletions cause aniridia by preventing PAX6 gene expression
58. A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse
59. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
60. Three novel aniridia mutations in the human PAX6 gene
61. Olfactory bulb development is altered in small-eye (Sey) mice
62. PAX6 mutation as a genetic factor common to aniridia and glucose intolerance
63. Reinventing a common strategy for patterning the eye
64. Patterning of the zebrafish retina by a wave of sonic hedgehog activity
65. BMP4 is essential for lens induction in the mouse embryo
66. BMP7 acts in murine lens placode development
67. Fgf receptor signaling plays a role in lens induction
68. Development and evolution of the eye: Fondation des Treilles, September, 2001
69. Identification of genes downstream of Pax6 in the mouse lens using cDNA microarrays
70. Isolation and characterization of a downstream target of Pax6 in the mammalian retinal primordium
71. Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development
72. Interaction of Maf transcription factors with Pax-6 results in synergistic activation of the glucagon promoter
73. A set of Hox proteins interact with the Maf oncoprotein to inhibit its DNA binding, transactivation, and transforming activities
74. Regulation of c-maf gene expression by Pax6 in cultured cells
75. Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila
76. Pax6 induces ectopic eyes in a vertebrate
77. Signalling pathways in Drosophila and vertebrate retinal development
78. Different roles for Pax6 in the optic vesicle and facial epithelium mediate early morphogenesis of the murine eye
79. Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye
80. Dosage requirement and allelic expression of PAX6 during lens placode formation
81. Comparison of protein kinase C subtype expression between normal and aniridic human ocular surfaces: Implications for limbal stem cell dysfunction in aniridia
82. Human elongator facilitates RNA polymerase II transcription through chromatin