Nijmegen breakage syndrome.
TLDR
The clinical, immunological, chromosomal, and cell biological findings resemble those in AT, but the clinical findings are quite different and NBS appears to be a separate entity not allelic with AT.Abstract:
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The immunological, chromosomal, and cell biological findings resemble those in AT, but the clinical findings are quite different. NBS appears to be a separate entity not allelic with AT.read more
Citations
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Journal ArticleDOI
The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response.
James P. Carney,James P. Carney,Richard S. Maser,Heidi A. Olivares,Elizabeth M. Davis,Michelle M. Le Beau,John R. Yates,Lara G. Hays,William F. Morgan,William F. Morgan,John H.J. Petrini +10 more
TL;DR: The isolated p95 gene encoding p95, a member of the hMre11/hRad50 double-strand break repair complex, reveals a direct molecular link between DSB repair and cell cycle checkpoint functions in NBS.
Journal ArticleDOI
Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome
Raymonda Varon,Christine S. Vissinga,Matthias Platzer,Karen M. Cerosaletti,Krystyna H. Chrzanowska,Kathrin Saar,Georg Beckmann,Eva Seemanova,Paul R. Cooper,Norma J. Nowak,Markus Stumm,Corry M.R. Weemaes,Richard A. Gatti,Richard K. Wilson,Martin Digweed,André Rosenthal,Karl Sperling,Patrick Concannon,André Reis +18 more
TL;DR: The positional cloning of a gene encoding a novel protein, nibrin, which contains two modules found in cell cycle checkpoint proteins, a forkhead-associated domain adjacent to a breast cancer carboxy-terminal domain and a truncating 5 bp deletion are described.
Journal ArticleDOI
The Mre11 complex: at the crossroads of dna repair and checkpoint signalling.
TL;DR: The Mre 11 complex is a multisubunit nuclease that is composed of Mre11, Rad50 and Nbs1/Xrs2 and its functions in checkpoint signalling and DNA replication are uncovered.
Journal ArticleDOI
Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response
Qing Zhong,Chi Fen Chen,Shang Li,Yumay Chen,Chuan Cheng Wang,Jun Xiao,Phang Lang Chen,Z. Dave Sharp,Wen-Hwa Lee +8 more
TL;DR: It is shown that BRCA1 interacts in vitro and in vivo with hRad50, which forms a complex with hMre11 and p95/nibrin that is important for the cellular responses to DNA damage that are mediated by the h Rad50-hMre 11-p95 complex.
Journal ArticleDOI
DNA Damage Response Pathway Uses Histone Modification to Assemble a Double-Strand Break-Specific Cohesin Domain
Elçin Ünal,Ayelet Arbel-Eden,Ulrike Sattler,Robert Shroff,Michael Lichten,James E. Haber,Douglas Koshland +6 more
TL;DR: It is shown in budding yeast that a single DSB induces the formation of a approximately 100 kb cohesin domain around the lesion, and analyses suggest that the primary DNA damage checkpoint kinases Mec1p and Tel1p phosphorylate histone H2AX to generate a large domain, which is permissive for cohesIn binding.
References
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Journal ArticleDOI
A single ataxia telangiectasia gene with a product similar to pi-3 kinase
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TL;DR: A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia was identified by positional cloning on chromosome 11q22-23 and encoded a putative protein that is similar to several yeast and mammalian phosphatidylinositol-3' kinases that are involved in mitogenic signal transduction, meiotic recombination, and cell cycle control.
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Journal ArticleDOI
Evidence for an alternative mechanism for maintaining telomere length in human tumors and tumor-derived cell lines
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Journal ArticleDOI
Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity
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TL;DR: Cell survival experiments are reported which indicate that the clinically observed enhanced sensitivity of AT patients to ionising radiation is manifest at the cellular level.
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Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome
Raymonda Varon,Christine S. Vissinga,Matthias Platzer,Karen M. Cerosaletti,Krystyna H. Chrzanowska,Kathrin Saar,Georg Beckmann,Eva Seemanova,Paul R. Cooper,Norma J. Nowak,Markus Stumm,Corry M.R. Weemaes,Richard A. Gatti,Richard K. Wilson,Martin Digweed,André Rosenthal,Karl Sperling,Patrick Concannon,André Reis +18 more
ATAXIA-TELANGIECTASIA AND THE NIJMEGEN BREAKAGE SYNDROME: Related Disorders But Genes Apart
A single ataxia telangiectasia gene with a product similar to pi-3 kinase
Kinneret Savitsky,Anat Bar-Shira,Shlomit Gilad,Galit Rotman,Yael Ziv,Lina Vanagaite,Danilo A. Tagle,Sara Smith,Tamar Uziel,Sharon Sfez,Maya Ashkenazi,Iris Pecker,Moshe Frydman,Reli Harnik,Sankhavaram R. Patanjali,Andrew D. Simmons,Gregory A. Clines,Adam Sartiel,Richard A. Gatti,Luciana Chessa,Ozden Sanal,Martin F. Lavin,Nicolaas G. J. Jaspers,A. Malcolm R. Taylor,Colin F. Arlett,Toru Miki,Sherman M. Weissman,Michael Lovett,Francis S. Collins,Yosef Shiloh +29 more