Abstract
Previously we described joining of DNA in the beta T cell receptor gene to DNA of an uncharacterized locus in a t(7;9)(q34;q34.3) chromosomal translocation from a case of human T lymphoblastic leukemia (T-ALL). We now show that the locus on chromosome 9 contains a gene highly homologous to the Drosophila gene Notch. Transcripts of the human gene, for which we propose the name TAN-1, and its murine counterpart are present in many normal human fetal and adult mouse tissues, but are most abundant in lymphoid tissues. In t(7;9)(q34;q34.3) translocations from three cases of T-ALL, the breakpoints occur within 100 bp of an intron in TAN-1, resulting in truncation of TAN-1 transcripts. These observations suggest that TAN-1 may be important for normal lymphocyte function and that alteration of TAN-1 may play a role in the pathogenesis of some T cell neoplasms.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Animals
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Base Sequence
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Blotting, Northern
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Chromosome Aberrations / genetics
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Chromosome Disorders
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Chromosomes, Human, Pair 7
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Chromosomes, Human, Pair 9
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Cloning, Molecular
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DNA / genetics
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Gene Expression
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Humans
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Leukemia-Lymphoma, Adult T-Cell / genetics*
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Membrane Proteins / genetics*
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Mice
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Molecular Sequence Data
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Morphogenesis
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Oligonucleotides / chemistry
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Polymerase Chain Reaction
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RNA, Messenger / genetics
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Receptor, Notch1
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Receptors, Antigen, T-Cell / genetics
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Receptors, Antigen, T-Cell, alpha-beta
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Receptors, Cell Surface*
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Restriction Mapping
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Transcription Factors*
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Transcription, Genetic
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Translocation, Genetic
Substances
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Membrane Proteins
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NOTCH1 protein, human
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Notch1 protein, mouse
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Oligonucleotides
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RNA, Messenger
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Receptor, Notch1
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Receptors, Antigen, T-Cell
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Receptors, Antigen, T-Cell, alpha-beta
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Receptors, Cell Surface
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Transcription Factors
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DNA