Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome
Article Abstract:
The mutations in ribosomal S6 kinase (Rsk)-2 gene present on the X chromosome are responsible for the Coffin-Lowry syndrome (CLS). Rsk-2 is a growth factor regulated serine-threonine kinase. Screening of 76 patients of CLS, detected deletion, nonsense, missense and splice site mutations in the Rsk-2 gene. Ser 227 in Rsk-2 is involved in maximal enzyme activity through autophosphorylation of the enzyme. S6 kinase assay of mutated Rsk-2 protein gives negative result. These indicate that loss of Rsk-2 function cause defects in the MAPK/RSK signalling pathway and is responsible for CLS.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1996
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DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis
Article Abstract:
Genetic research demonstrates that the nuclear receptor gene DAX-1 is a strong transcriptional repressor of StAR gene expression, causing significantly reduced steroid production. Evidence suggests that DAX-1 binds with hairpin structures on deoxyribonucleic acid molecules to block steroidogenesis. A novel class of nuclear receptors capable of DNA-binding properties has been established.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1997
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A vivid loop of light
Article Abstract:
Issues are presented concerning the fine tuning of biological clocks. The influence of a protein named VIVID in controlling the light response in the fungus Neurospora crassa is discussed.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2001
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