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T cell receptor gene rearrangement and expression in ataxia-telangiectasia B lymphoblastoid cells. 1989

G D Baxter, and S Kumar, and M F Lavin
Department of Biochemistry, University of Queensland, Brisbane, Australia.

Immunoglobulin and T cell receptor gene probes have been used to investigate cell lineage and monoclonality in lymphoid malignancies. In the present study we have used T cell receptor beta- and gamma-chain gene probes to screen for abnormal rearrangements of these genes in B lymphoblastoid cells from patients with ataxia-telangiectasia (A-T). No rearrangement of either gene was observed but deletion of a beta-chain gene allele is described for one A-T cell line. Expression of mRNA hybridizing to the beta-chain gene probe was demonstrated for two A-T homozygotes (brother and sister) as well as for their mother (heterozygote). This transcript was found to be truncated in all three cases.

UI MeSH Term Description Entries
D002460 Cell Line Established cell cultures that have the potential to propagate indefinitely. Cell Lines,Line, Cell,Lines, Cell
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D005786 Gene Expression Regulation Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation. Gene Action Regulation,Regulation of Gene Expression,Expression Regulation, Gene,Regulation, Gene Action,Regulation, Gene Expression
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001260 Ataxia Telangiectasia An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23). Louis-Bar Syndrome,Ataxia Telangiectasia Syndrome,Ataxia-Telangiectasia,Telangiectasia, Cerebello-Oculocutaneous,Louis Bar Syndrome,Syndrome, Ataxia Telangiectasia,Syndrome, Louis-Bar
D001402 B-Lymphocytes Lymphoid cells concerned with humoral immunity. They are short-lived cells resembling bursa-derived lymphocytes of birds in their production of immunoglobulin upon appropriate stimulation. B-Cells, Lymphocyte,B-Lymphocyte,Bursa-Dependent Lymphocytes,B Cells, Lymphocyte,B Lymphocyte,B Lymphocytes,B-Cell, Lymphocyte,Bursa Dependent Lymphocytes,Bursa-Dependent Lymphocyte,Lymphocyte B-Cell,Lymphocyte B-Cells,Lymphocyte, Bursa-Dependent,Lymphocytes, Bursa-Dependent
D012333 RNA, Messenger RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. Messenger RNA,Messenger RNA, Polyadenylated,Poly(A) Tail,Poly(A)+ RNA,Poly(A)+ mRNA,RNA, Messenger, Polyadenylated,RNA, Polyadenylated,mRNA,mRNA, Non-Polyadenylated,mRNA, Polyadenylated,Non-Polyadenylated mRNA,Poly(A) RNA,Polyadenylated mRNA,Non Polyadenylated mRNA,Polyadenylated Messenger RNA,Polyadenylated RNA,RNA, Polyadenylated Messenger,mRNA, Non Polyadenylated
D015329 Gene Rearrangement, T-Lymphocyte Ordered rearrangement of T-cell variable gene regions coding for the antigen receptors. Gene Rearrangement, T-Cell Antigen Receptor,T-Cell Gene Rearrangement,T-Lymphocyte Gene Rearrangement,Gene Rearrangement, T-Cell,Gene Rearrangement, T Cell,Gene Rearrangement, T Cell Antigen Receptor,Gene Rearrangement, T Lymphocyte,Gene Rearrangements, T-Cell,Gene Rearrangements, T-Lymphocyte,Rearrangement, T-Cell Gene,Rearrangement, T-Lymphocyte Gene,Rearrangements, T-Cell Gene,Rearrangements, T-Lymphocyte Gene,T Cell Gene Rearrangement,T Lymphocyte Gene Rearrangement,T-Cell Gene Rearrangements,T-Lymphocyte Gene Rearrangements
D015333 Gene Rearrangement, beta-Chain T-Cell Antigen Receptor Ordered rearrangement of T-cell variable gene regions coding for the beta-chain of antigen receptors. T-Cell Antigen Receptor beta-Chain Gene Rearrangement,T-Lymphocyte Antigen Receptor beta-Chain Gene Rearrangement,Gene Rearrangement, beta-Chain T Cell Antigen Receptor,T Cell beta-Chain Gene Rearrangement,T Lymphocyte beta-Chain Gene Rearrangement,Gene Rearrangement, beta Chain T Cell Antigen Receptor,T Cell Antigen Receptor beta Chain Gene Rearrangement,T Cell beta Chain Gene Rearrangement,T Lymphocyte Antigen Receptor beta Chain Gene Rearrangement,T Lymphocyte beta Chain Gene Rearrangement
D015334 Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor Ordered rearrangement of T-cell variable gene regions coding for the gamma-chain of antigen receptors. T-Cell Antigen Receptor gamma-Chain Gene Rearrangement,T-Lymphocyte Antigen Receptor gamma-Chain Gene Rearrangement,Gene Rearrangement, gamma-Chain T Cell Antigen Receptor,T Cell gamma-Chain Gene Rearrangement,T Lymphocyte gamma-Chain Gene Rearrangement,Gene Rearrangement, gamma Chain T Cell Antigen Receptor,T Cell Antigen Receptor gamma Chain Gene Rearrangement,T Cell gamma Chain Gene Rearrangement,T Lymphocyte Antigen Receptor gamma Chain Gene Rearrangement,T Lymphocyte gamma Chain Gene Rearrangement

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