title: SUN-domain and KASH-domain proteins during development, meiosis and disease.
abstract: SUN-domain proteins interact directly with KASH-domain proteins to form protein complexes that connect the nucleus to every major cytoskeleton network. SUN-KASH protein complexes are also required for attaching centrosomes to the nuclear periphery and for alignment of homologous chromosomes, their pairing and recombination in meiosis. Other functions that require SUN-domain proteins include the regulation of apoptosis and maturation and survival of the germline. Laminopathic diseases affect the distribution of the SUN-KASH complexes, and mutations in KASH-domain proteins can cause Emery Dreifuss muscular dystrophy and recessive cerebellar ataxia. This review describes our current knowledge of the role of SUN-KASH domain protein complexes during development, meiosis and disease.
authors.affiliation: Department of Genetics, Hebrew University of Jerusalem, Jerusalem, 91904, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Fridkin
authors.forename: A
authors.initials: A
authors.lastname: Penkner
authors.forename: V
authors.initials: V
authors.lastname: Jantsch
authors.forename: Y
authors.initials: Y
authors.lastname: Gruenbaum
mesh_terms: D020816:Amino Acid Motifs / Q000502:physiology; D000818:Animals; D017209:Apoptosis / Q000502:physiology; D002467:Cell Nucleus / Q000378:metabolism*; D018385:Centrosome / Q000378:metabolism; D002524:Cerebellar Ataxia / Q000235:genetics; D002875:Chromosomes / Q000378:metabolism; D003599:Cytoskeleton / Q000378:metabolism; D006801:Humans; D034882:Lamins / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D008540:Meiosis / Q000502:physiology*; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D008954:Models, Biological; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics
chemical_list: D034882:Lamins; D008565:Membrane Proteins