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PMID:8069912

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Citation

Derry, JM, Ochs, HD and Francke, U (1994) Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78:635-44

Abstract

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.

Links

PubMed

Keywords

Amino Acid Sequence; Amino Acids/analysis; Base Sequence; Chromosome Mapping; Cloning, Molecular; DNA, Complementary/genetics; Female; Genetic Linkage; Humans; Infant; Male; Molecular Sequence Data; Organ Specificity; Pedigree; Point Mutation/genetics; Proteins/genetics; RNA, Messenger/analysis; Sequence Analysis, DNA; Sequence Deletion/genetics; Wiskott-Aldrich Syndrome/genetics; Wiskott-Aldrich Syndrome Protein; X Chromosome

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:WASP

involved_in

GO:0006955: immune response

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:WASP

involved_in

GO:0008544: epidermis development

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:WASP

involved_in

GO:0007596: blood coagulation

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:WASP

involved_in

GO:0006952: defense response

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete


See also

References

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