Abstract：
:Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. Cells from NBS patients are hypersensitive to ionizing radiation with cytogenetic features indistinguishable from ataxia telangiectasia. We describe the positional cloning of a gene encoding a novel protein, nibrin. It contains two modules found in cell cycle checkpoint proteins, a forkhead-associated domain adjacent to a breast cancer carboxy-terminal domain. A truncating 5 bp deletion was identified in the majority of NBS patients, carrying a conserved marker haplotype. Five further truncating mutations were identified in patients with other distinct haplotypes. The domains found in nibrin and the NBS phenotype suggest that this disorder is caused by defective responses to DNA double-strand breaks.
journal_name
Celljournal_title
Cellauthors
Varon R,Vissinga C,Platzer M,Cerosaletti KM,Chrzanowska KH,Saar K,Beckmann G,Seemanová E,Cooper PR,Nowak NJ,Stumm M,Weemaes CM,Gatti RA,Wilson RK,Digweed M,Rosenthal A,Sperling K,Concannon P,Reis Adoi
10.1016/s0092-8674(00)81174-5subject
Has Abstractpub_date
1998-05-01 00:00:00pages
467-76issue
3eissn
0092-8674issn
1097-4172pii
S0092-8674(00)81174-5journal_volume
93pub_type
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