High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome

2001 ◽  
Vol 92 (3-4) ◽  
pp. 186-191 ◽  
Author(s):  
M. Stumm ◽  
S. Neubauer ◽  
S. Keindorff ◽  
R.-D. Wegner ◽  
P. Wieacker ◽  
...  
Keyword(s):  
Ataxia Telangiectasia ◽  
High Frequency ◽  
Nijmegen Breakage Syndrome ◽  
In Cells

Radiation Induction of p53 in Cells from Nijmegen Breakage Syndrome Is Defective but Not Similar to Ataxia-Telangiectasia

1998 ◽  
Vol 242 (3) ◽  
pp. 602-607 ◽  
Author(s):  
Kanji Matsuura ◽  
Timur Balmukhanov ◽  
Hiroshi Tauchi ◽  
Corry Weemaes ◽  
Domique Smeets ◽  
...  
Keyword(s):  
Ataxia Telangiectasia ◽  
Nijmegen Breakage Syndrome ◽  
In Cells

The ionizing radiation-induced replication protein A phosphorylation response differs between ataxia telangiectasia and normal human cells

1993 ◽  
Vol 13 (12) ◽  
pp. 7222-7231
Author(s):  
V F Liu ◽  
D T Weaver
Keyword(s):  
Dna Repair ◽  
Ionizing Radiation ◽  
Gamma Irradiation ◽  
Ataxia Telangiectasia ◽  
Protein A ◽  
Replication Protein A ◽  
Replication Protein ◽  
Inherited Disease ◽  
Dna Replication And Repair ◽  
In Cells

Replication protein A (RPA), the trimeric single-stranded DNA-binding protein complex of eukaryotic cells, is important to DNA replication and repair. Phosphorylation of the p34 subunit of RPA is modulated by the cell cycle, occurring during S and G2 but not during G1. The function of phosphorylated p34 remains unknown. We show that RPA p34 phosphorylation is significantly induced by ionizing radiation. The phosphorylated form, p36, is similar if not identical to the phosphorylated S/G2 form. gamma-Irradiation-induced phosphorylation occurs without new protein synthesis and in cells in G1. Mutation of cdc2-type protein kinase phosphorylation sites in p34 eliminates the ionizing radiation response. The gamma-irradiation-induced phosphorylation of RPA p34 is delayed in cells from ataxia telangiectasia, a human inherited disease conferring DNA repair defects and early-onset tumorigenesis. UV-induced phosphorylation of RPA p34 occurs less rapidly than gamma-irradiation-induced phosphorylation but is kinetically similar between ataxia telangiectasia and normal cells. This is the first time that modification of a repair protein, RPA, has been linked with a DNA damage response and suggests that phosphorylation may play a role in regulating DNA repair pathways.

scholarly journals Apoptosis Associated with Deregulated E2F Activity Is Dependent on E2F1 and Atm/Nbs1/Chk2

2004 ◽  
Vol 24 (7) ◽  
pp. 2968-2977 ◽  
Author(s):  
Harry A. Rogoff ◽  
Mary T. Pickering ◽  
Fiona M. Frame ◽  
Michelle E. Debatis ◽  
Yolanda Sanchez ◽  
...  
Keyword(s):  
Ataxia Telangiectasia ◽  
Cellular Proliferation ◽  
Normal Development ◽  
Growth Control ◽  
Nijmegen Breakage Syndrome ◽  
Gene Products ◽  
Apoptosis Induction ◽  
Human Papillomavirus Type 16 ◽  
Nbs1 Gene ◽  
Damage Response

ABSTRACT The retinoblastoma protein (Rb)/E2F pathway links cellular proliferation control to apoptosis and is critical for normal development and cancer prevention. Here we define a transcription-mediated pathway in which deregulation of E2F1 by ectopic E2F expression or Rb inactivation by E7 of human papillomavirus type 16 signals apoptosis by inducing the expression of Chk2, a component of the DNA damage response. E2F1- and E7-mediated apoptosis are compromised in cells from patients with the related disorders ataxia telangiectasia and Nijmegen breakage syndrome lacking functional Atm and Nbs1 gene products, respectively. Both Atm and Nbs1 contribute to Chk2 activation and p53 phosphorylation following deregulation of normal Rb growth control. E2F2, a related E2F family member that does not induce apoptosis, also activates Atm, resulting in phosphorylation of p53. However, we found that the key commitment step in apoptosis induction is the ability of E2F1, and not E2F2, to upregulate Chk2 expression. Our results suggest that E2F1 plays a central role in signaling disturbances in the Rb growth control pathway and, by upregulation of Chk2, may sensitize cells to undergo apoptosis.

First-trimester prenatal diagnosis of the nijmegen breakage syndrome and ataxia telangiectasia using an assay of radioresistant dna synthesis

1990 ◽  
Vol 10 (10) ◽  
pp. 667-674 ◽  
Author(s):  
Nicolaas G. J. Jaspers ◽  
Magna van der Kraan ◽  
Peter C. M. L. Linssen ◽  
Milan Maçek ◽  
Eva Seemanová ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Dna Synthesis ◽  
Ataxia Telangiectasia ◽  
First Trimester ◽  
Nijmegen Breakage Syndrome

scholarly journals Random GFP::cDNA fusions enable visualization of subcellular structures in cells of Arabidopsis at a high frequency

2000 ◽  
Vol 97 (7) ◽  
pp. 3718-3723 ◽  
Author(s):  
S. R. Cutler ◽  
D. W. Ehrhardt ◽  
J. S. Griffitts ◽  
C. R. Somerville
Keyword(s):  
High Frequency ◽  
In Cells

Abnormal processing of transfected plasmid DNA in cells from patients with ataxia telangiectasia

1992 ◽  
Vol 293 (1) ◽  
pp. 47-54 ◽  
Author(s):  
Thomas M. Rünger ◽  
Martin Poot ◽  
Kenneth H. Kraemer
Keyword(s):  
Plasmid Dna ◽  
Ataxia Telangiectasia ◽  
Abnormal Processing ◽  
In Cells

scholarly journals Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR

Blood ◽  
2012 ◽  
Vol 119 (11) ◽  
pp. 2552-2555 ◽  
Author(s):  
Stephan Borte ◽  
Ulrika von Döbeln ◽  
Anders Fasth ◽  
Ning Wang ◽  
Magdalena Janzi ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Ataxia Telangiectasia ◽  
Neonatal Screening ◽  
Severe Combined Immunodeficiency ◽  
Immunoglobulin A ◽  
Cell Receptor ◽  
Nijmegen Breakage Syndrome ◽  
Inborn Errors ◽  
Guthrie Card ◽  
Excision Circles

Abstract Severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are inborn errors of immune function that require prompt diagnosis and treatment to prevent life-threatening infections. The lack of functional T or B lymphocytes in these diseases serves as a diagnostic criterion and can be applied to neonatal screening. A robust triplex PCR method for quantitation of T-cell receptor excision circles (TRECs) and κ-deleting recombination excision circles (KRECs), using a single Guthrie card punch, was developed and validated in a cohort of 2560 anonymized newborn screening cards and in 49 original stored Guthrie cards from patients diagnosed with SCID, XLA, ataxia-telangiectasia, Nijmegen-breakage-syndrome, common variable immunodeficiency, immunoglobulin A deficiency, or X-linked hyper-IgMsyndrome. Simultaneous measurement of TREC and KREC copy numbers in Guthrie card samples readily identified patients with SCID, XLA, ataxia-telangiectasia and Nijmegen-breakage-syndrome and thus facilitates effective newborn screening for severe immunodeficiency syndromes characterized by the absence of T or B cells.

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