Actin isoform expression patterns during mammalian development and in pathology: insights from mouse models.
The dynamic actin cytoskeleton, consisting of six actin isoforms in mammals and a variety of actin binding proteins is essential for all developmental processes and for the viability of the adult organism. Actin isoform specific functions have been proposed for muscle contraction, cell migration, endo- and exocytosis and maintaining cell shape. However, these specific functions for each of the actin isoforms during development are not well understood. Based on transgenic mouse models, we will discuss the expression patterns of the six conventional actin isoforms in mammals during development and adult life. Ablation of actin genes usually leads to lethality and affects expression of other actin isoforms at the cell or tissue level. A good knowledge of their expression and functions will contribute to fully understand severe phenotypes or diseases caused by mutations in actin isoforms.
Tondeleir
Davina
D
Department of Medical Protein Research, Flanders Interuniversity Institute for Biotechnology (VIB), Albert Baertsoenkaai 3, Ghent, Belgium.
Vandamme
Drieke
D
Vandekerckhove
Joël
J
Ampe
Christophe
C
Lambrechts
Anja
A
D000015:Abnormalities, Multiple; D000199:Actins / Q000235:genetics* / Q000378:metabolism*; D019943:Amino Acid Substitution; D000818:Animals; D001014:Aortic Aneurysm / Q000235:genetics; D003638:Deafness / Q000235:genetics; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D008822:Mice, Transgenic; D024510:Muscle Development / Q000502:physiology*; D009130:Muscle, Smooth / Q000254:growth & development; D017696:Myopathies, Nemaline / Q000235:genetics; D020914:Myopathies, Structural, Congenital / Q000235:genetics; D020512:Myopathy, Central Core / Q000235:genetics; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D012518:Sarcomeres / Q000648:ultrastructure
D000199:Actins; D020033:Protein Isoforms