Open AccessCytoplasmic Ig‐domain proteins: Cytoskeletal regulators with a role in human disease
Author(s) -
Otey Carol A.,
Dixon Richard,
Stack Christianna,
Goicoechea Silvia M.
Publication year - 2009
Publication title -
cell motility and the cytoskeleton
Language(s) - English
Resource type - Journals
eISSN - 1097-0169
pISSN - 0886-1544
DOI - 10.1002/cm.20385
Subject(s) - biology , cytoskeleton , cytoplasm , microbiology and biotechnology , human disease , domain (mathematical analysis) , computational biology , genetics , cell , gene , mathematical analysis , mathematics
Abstract Immunoglobulin domains are found in a wide variety of functionally diverse transmembrane proteins, and also in a smaller number of cytoplasmic proteins. Members of this latter group are usually associated with the actin cytoskeleton, and most of them bind directly to either actin or myosin, or both. Recently, studies of inherited human disorders have identified disease‐causing mutations in five cytoplasmic Ig‐domain proteins: myosin‐binding protein C, titin, myotilin, palladin, and myopalladin. Together with results obtained from cultured cells and mouse models, these clinical studies have yielded novel insights into the unexpected roles of Ig domain proteins in mechanotransduction and signaling to the nucleus. An emerging theme in this field is that cytoskeleton‐associated Ig domain proteins are more than structural elements of the cell, and may have evolved to fill different needs in different cellular compartments. Cell Motil. Cytoskeleton 2009. © 2009 Wiley‐Liss, Inc.