title: Cytoskeletons of X-linked GATA-1, G208S macrothrombocytes are deficient in talin.
abstract: An X-linked mutation in the GATA-1 transcription factor, G208S, causes macrothrombocytopenia and serious bleeding problems in affected male family members. The unique ultrastructural pathology of their platelets was described previously. The present investigation has evaluated the cytoskeletal proteins of the GATA-1, G208S macrothrombocytes of two male patients by page gel electrophoresis and Western blot analysis. The 235-245 KD cytoskeletal protein, Talin, was absent from their (PAGE) gels and undetectable by a specific talin antibody on Western blots.
authors.affiliation: Department of Laboratory Medicine, University of Minnesota School of Medicine, Minneapolis, MN, USA. white003@umn.edu
authors.forename: James G
authors.initials: JG
authors.lastname: White
authors.forename: Steven M
authors.initials: SM
authors.lastname: Burris
mesh_terms: D001792:Blood Platelets / Q000737:chemistry / Q000648:ultrastructure*; D015153:Blotting, Western; D003599:Cytoskeleton / Q000737:chemistry*; D005260:Female; D050982:GATA1 Transcription Factor / Q000235:genetics*; D050172:Genes, X-Linked; D040181:Genetic Diseases, X-Linked; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D016608:Talin / Q000172:deficiency*; D013921:Thrombocytopenia / Q000235:genetics
chemical_list: D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; D016608:Talin