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.

Analysis, Abnormalities, Observations, Cellular signal transduction, Protein kinases, Linkage (Genetics), X chromosome

---

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.

Genetic aspects, Genetic transcription, Transcription (Genetics), Steroids (Drugs)

---

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.

Physiological aspects, Fungi, Biological rhythms, Biorhythms

Similar abstracts:

• Abstracts: Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. MOD-1 is a serotonin-gated chloride channel that modulates locomotory behaviour in C. elegans
• Abstracts: Cofilin phosphorylation by LIM-kinase 1 and its role in Rac-mediated actin reorganization. Polo-like kinase 1 phosphorylates cyclin B1 and targets it to the nucleus during prophase
• Abstracts: Single kinesin molecules studied with a molecular force clamp. Doing a rotary two-step
• Abstracts: The role of mat-forming diatoms in the formation of Mediterranean sapropels. Early Oligocene initiation of North Atlantic deep water formation
• Abstracts: Directional guidance of neuronal migration in the olfactory system by the protein Slit. The neuronal repellent Slit inhibits leukocyte chemotaxis induced by chemotactic factors

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.