LIS1: cellular function of a disease-causing gene
Graduate School of Biomedical Sciences; Dept of Cell Biology
Medical Subject Headings
1-Alkyl-2-acetylglycerophosphocholine Esterase; Brain; Brain Diseases, Metabolic, Inborn; Child; Developmental Disabilities; Humans; Microtubule-Associated Proteins
Life Sciences | Medicine and Health Sciences
Brain development is severely defective in children with lissencephaly. The highly organized distribution of neurons within the cerebral cortex is disrupted, a condition that might arise from improper migration of neuronal progenitors to their cortical destinations. Type I lissencephaly results from mutations in the LIS1 gene, which has been implicated in the cytoplasmic dynein and platelet-activating factor pathways. Recent studies have identified roles for the product of LIS1 in nuclear migration, mitotic spindle orientation and chromosome alignment, where it appears to act in concert with cytoplasmic dynein. A unifying hypothesis for the subcellular function of LIS1 is presented.
Rights and Permissions
Citation: Trends Cell Biol. 2001 Apr;11(4):155-60.
Trends in cell biology
Vallee, Richard B.; Tai, Chin-Yin; and Faulkner, Nicole E., "LIS1: cellular function of a disease-causing gene" (2001). GSBS Student Publications. 1276.