Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.
Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, and recurrent infections. Linkage studies have placed the gene at Xp11.22-p11.23. We have isolated from this interval a novel gene, WASP, which is expressed in lymphocytes, spleen, and thymus. The gene is not expressed in two unrelated WAS patients, one of whom has a single base deletion that produces a frame shift and premature termination of translation. Two additional patients have been identified with point mutations that change the same arginine residue to either a histidine or a leucine. WASP encodes a 501 amino acid proline-rich protein that is likely to be a key regulator of lymphocyte and platelet function.
Derry
J M
JM
Howard Hughes Medical Institute, Beckman Center for Molecular and Genetic Medicine, Stanford, California.
Ochs
H D
HD
Francke
U
U
D000595:Amino Acid Sequence; D000596:Amino Acids / Q000032:analysis; D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009928:Organ Specificity; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein; D014960:X Chromosome
D000596:Amino Acids; D018076:DNA, Complementary; D011506:Proteins; D012333:RNA, Messenger; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein