LIMK1 and CLIP-115: linking cytoskeletal defects to Williams syndrome.

Abstract	Williams Syndrome is a developmental disorder that is characterized by cardiovascular problems, particular facial features and several typical behavioral and neurological abnormalities. In Williams Syndrome patients, a heterozygous deletion is present of a region on chromosome 7q11.23 (the Williams Syndrome critical region), which spans approximately 20 genes. Two of these genes encode proteins that regulate dynamic aspects of the cytoskeleton of the cell, either via the actin filament system (LIM kinase 1, or LIMK1), or through the microtubule network (cytoplasmic linker protein of 115 kDa, or CLIP-115). The recent findings that knockout mice lacking LIMK1 or CLIP-115 have distinct neurological and behavioural phenotypes, indicates that cytoskeletal defects might play a role in the development of neurological symptoms in Williams Syndrome patients. In this review, we discuss the properties of LIMK and CLIP family proteins, their function in the regulation of the actin and microtubule cytoskeletal systems, respectively, and the relationship with neurodevelopmental aspects of Williams Syndrome.
Authors	Casper C Hoogenraad, Anna Akhmanova, Niels Galjart, Chris I De Zeeuw
Journal	BioEssays : news and reviews in molecular, cellular and developmental biology (Bioessays) Vol. 26 Issue 2 Pg. 141-50 (Feb 2004) ISSN: 0265-9247 [Print] United States
PMID	14745832 (Publication Type: Journal Article, Review)
Copyright	Copyright 2004 Wiley Periodicals, Inc.
Chemical References	Actins DNA-Binding Proteins Dynactin Complex Microtubule-Associated Proteins Nerve Tissue Proteins cytoplasmic linker protein 115 Protein Kinases LIMK1 protein, human Lim Kinases Limk1 protein, mouse Protein Serine-Threonine Kinases
Topics	Actins (metabolism) Animals Chromosomes, Human, Pair 7 Cytoskeleton (metabolism) DNA-Binding Proteins (genetics, metabolism) Dynactin Complex Humans Lim Kinases Mice Mice, Knockout Microtubule-Associated Proteins (genetics, metabolism) Microtubules (metabolism) Nerve Tissue Proteins (genetics, metabolism) Protein Kinases Protein Serine-Threonine Kinases (genetics, metabolism) Williams Syndrome (genetics, metabolism)

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