Abstract
Inhibition of apoptosis by the BEACH domain and WD repeats of gene lba that has key features of both protein kinase A anchor and chs1/beige genes
Highlights
The Chediak-Higashi Syndrome patients suffer from a systematic immune deficiency including defects in T cell cytotoxicity, killing by NK cells, defective bactericidal activity and chemotaxis by granulocytes and monocytes
The beige and chs1 genes have been cloned recently (1). Despite these very provocative findings there still remains no direct evidence that CHS1 proteins associate with intracellular vesicles and a molecular explanation for defective vesicle trafficking and the protein missorting in these diseases is still sought
We have recently identified a novel beige-like gene in humans and mice that is induced by LPS stimulation in macrophages and B cells
Summary
The Chediak-Higashi Syndrome patients suffer from a systematic immune deficiency including defects in T cell cytotoxicity, killing by NK cells, defective bactericidal activity and chemotaxis by granulocytes and monocytes. All cells in beige mice and CHS patients bear giant vesicles that cluster around the nucleus. The beige and chs1 genes have been cloned recently (1). Despite these very provocative findings there still remains no direct evidence that CHS1 proteins associate with intracellular vesicles and a molecular explanation for defective vesicle trafficking and the protein missorting in these diseases is still sought.
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