title: Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex.
abstract: The survival of motor neurons (SMN) protein is the product of the gene mutated or deleted in the neurodegenerative disease, spinal muscular atrophy. SMN is part of a large macromolecular complex that also contains Gemin2, Gemin3, Gemin4, Gemin5, and Gemin6. The SMN complex functions in the assembly of spliceosomal small nuclear ribonucleoproteins and probably other ribonucleoprotein particles. We have identified a novel protein component of the SMN complex termed Gemin7 using native purified SMN complexes and peptide sequencing by mass spectrometry. Coimmunoprecipitation and immunolocalization experiments demonstrate that Gemin7 is a component of the SMN complex and colocalizes with SMN in the cytoplasm and in gems. Binding experiments show that Gemin7 interacts directly with SMN and Gemin6 and mediates the association of Gemin6 with the SMN complex. The amino acid sequence of Gemin7 does not contain any recognizable motifs with the exception of several arginine and glycine repeats that are necessary for its interaction with SMN. Moreover, Gemin7 interacts with several Sm proteins of spliceosomal small nuclear ribonucleoproteins, in particular, with SmE. With the identification of Gemin7, the inventory of the core components of the SMN complex appears essentially complete.
authors.affiliation: Howard Hughes Medical Institute and Department of Biochemistry & Biophysics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-6148, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Baccon
authors.forename: Livio
authors.initials: L
authors.lastname: Pellizzoni
authors.forename: Juri
authors.initials: J
authors.lastname: Rappsilber
authors.forename: Matthias
authors.initials: M
authors.lastname: Mann
authors.forename: Gideon
authors.initials: G
authors.lastname: Dreyfuss
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D002460:Cell Line; D002470:Cell Survival; D006367:HeLa Cells; D006801:Humans; D008969:Molecular Sequence Data; D009046:Motor Neurons / Q000166:cytology* / Q000502:physiology*; D010446:Peptide Fragments / Q000737:chemistry; D014176:Protein Biosynthesis; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: D002352:Carrier Proteins; D010446:Peptide Fragments; C466231:GEMIN7 protein, human