The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.
X-linked agammaglobulinaemia (XLA) is a human immunodeficiency caused by failure of pre-B cells in the bone marrow to develop into circulating mature B cells. A novel gene has been isolated which maps to the XLA locus, is expressed in B cells, and shows mutations in families with the disorder. The gene is a member of the src family of proto-oncogenes which encode protein-tyrosine kinases. This is, to our knowledge, the first evidence that mutations in a src-related gene are involved in human genetic disease.
Vetrie
D
D
Division of Medical and Molecular Genetics, UMDS, Guy's Hospital, London, UK.
Vorechovský
I
I
Sideras
P
P
Holland
J
J
Davies
A
A
Flinter
F
F
Hammarström
L
L
Kinnon
C
C
Levinsky
R
R
Bobrow
M
M
D000361:Agammaglobulinemia / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D005260:Female; D016391:Genes, src; D006801:Humans; D007621:Karyotyping; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics; D008214:Lymphocytes / Q000502:physiology*; D008969:Molecular Sequence Data; D005810:Multigene Family; D009838:Oligodeoxyribonucleotides; D009928:Organ Specificity; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D011995:Recombination, Genetic; D012441:Saccharomyces cerevisiae / Q000235:genetics; D017386:Sequence Homology, Amino Acid; D014158:Transcription, Genetic; D014960:X Chromosome; D000519:alpha-Galactosidase / Q000235:genetics
D009838:Oligodeoxyribonucleotides; D011505:Protein-Tyrosine Kinases; D000519:alpha-Galactosidase