Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders

Development

Volumn 128, Issue 24, 2001, Pages 5189-5199

  Brickman, Joshua M ^a   Clements, Melanie ^a   Tyrell, Richard ^a   McNay, David ^a   Woods, Kathryn ^a   Warner, Justin ^a   Stewart, Andrew ^a   Beddington, Rosa S P ^a   Dattani, Mehul ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Hesx1 HESX1; Homeodomain; Pituitary; Repression; Transcription

Indexed keywords

AMINO ACID; ARGININE; ASPARAGINE; CYSTEINE; DNA; DNA BINDING PROTEIN; HOMEODOMAIN PROTEIN; LEUCINE; SERINE;

AMINO ACID SUBSTITUTION; ARTICLE; BINDING AFFINITY; CELL CULTURE; CENTRAL NERVOUS SYSTEM; CONTROLLED STUDY; ETHNIC GROUP; FREQUENCY ANALYSIS; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; HEREDITY; HETEROZYGOSITY; HUMAN; HYPOPHYSIS DISEASE; IN VITRO STUDY; IN VIVO STUDY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NERVOUS SYSTEM DEVELOPMENT; NEUROHYPOPHYSIS; PATHOGENESIS; PEDIGREE ANALYSIS; PHENOTYPE; POINT MUTATION; POPULATION GENETICS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; REPRESSOR GENE;

ANIMALS; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHILD; GENES, HOMEOBOX; HOMEODOMAIN PROTEINS; HUMANS; MICE; MUTATION; PITUITARY DISEASES; PROTEIN BINDING; REPRESSOR PROTEINS; SEPTO-OPTIC DYSPLASIA;

MAMMALIA; VERTEBRATA;

EID: 0035692012     PISSN: 09501991     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (44)

1. Hormonal, metabolic, and neuroradiologic abnormalities associated with septo-optic dysplasia
2. Interactions between an HMG-1 protein and members of the rel family
3. Hex is a transcriptional repressor that contributes to anterior identity and suppresses Spemann organiser function
4. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
5. HESX1: A novel gene implicated in a familial form of septo-optic dysplasia
6. The sequence specificity of homeodomain-DNA interaction
7. Conversion of dorsal from an activator to a repressor by the global corepressor Groucho
8. A synergistic increase in potency of a multimerized VP16 transcriptional activation domain
9. Factors influencing the differentiation of embryonal carcinoma and embryo-derived stem cells
10. MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations
11. Homeodomain proteins
12. Homeodomain and winged-helix transcription factors recruit activated Smads to distinct promoter elements via a common Smad interaction motif
13. Active repression mechanisms of eukaryotic transcription repressors
14. Mixer, a homeobox gene required for endoderm development
15. Rpx: A novel anterior-restricted homeobox gene progressively activated in the prechordal plate, anterior neural plate and Rathke's pouch of the mouse embryo
16. Groucho acts as a corepressor for a subset of negative regulators, including Hairy and Engrailed
17. A conserved motif in goosecoid mediates groucho-dependent repression in Drosophila embryos
18. Goosecoid and mix.1 repress Brachyury expression and are required for head formation in Xenopus
19. Transcriptional repression of eukaryotic promoters
20. GAL4 derivatives function alone and synergistically with mammalian activators in vitro
21. Structural determinants within Pbx1 that mediate cooperative DNA binding with pentapeptide containing Hox proteins: Proposal for a model of a Pbx1-Hox-DNA complex
22. Drosophila Goosecoid requires a conserved heptapeptide for repression of paired-class homeoprotein activators
23. Transcriptional selectivity of viral genes in mammalian cells
24. BMP-4-responsive regulation of dorsal-ventral patterning by the homeobox protein Mix. 1
25. Dicistronic targeting constructs: Reporters and modifiers of mammalian gene expression
26. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency
27. Heritable disorders of pituitary development
28. Structure of a HoxB1-Pbx1 heterodimer bound to DNA: Role of the hexapeptide and a fourth homeodomain helix in complex formation
29. Direct homeodomain-DNA interaction in the autoregulation of the fushi tarazu gene
30. Inhibition of pluripotential embryonic stem cell differentiation by purified polypeptides
31. A conserved region of engrailed, shared among all en-, gsc-, Nk1-, Nk2- and msh-class homeoproteins, mediates active transcriptional repression in vivo
32. Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism
33. Bix1, a direct target of Xenopus T-box genes, causes formation of ventral mesoderm and endoderm
34. Anterior primitive endoderm may be responsible for patterning the anterior neural plate in the mouse embryo
35. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia
36. Two distinct types of repression domain in engrailed: One interacts with the groucho corepressor and is preferentially active on integrated target genes
37. A single amino acid can determine the DNA binding specificity of homeodomain proteins
38. Dorsal-mediated repression requires the formation of a multiprotein repression complex at the ventral silencer
39. Evidence for possible Mendelian inheritance of septo-optic dysplasia
40. Cooperative dimerization of paired class homeo domains on DNA
41. 3rd UNC-4/UNC-37-dependent repression of motor neuron-specific genes controls synaptic choice in Caenorhabditis elegans
42. Homeodomain interactions
43. Signal-specific co-activator domain requirements for Pit-1 activation