Positional cloning of the gene for Nijmegen breakage syndrome
| Autor: | Satoru Endo, Kenshi Komatsu, Yusuke Nakamura, Minoru Isomura, Shinya Matsuura, Asako Nakamura, Bernd H. Belohradsky, B. Sölder, Dominique Smeets, Shuichi Sakamoto, Mitsuo Oshimura, Noriko Kondo, Hiroshi Tauchi, Vazken M. Der Kaloustian |
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| Rok vydání: | 1998 |
| Předmět: |
Breuk-gevoelige plaatsen in chromosomen bij de mens
Databases Factual Positional cloning (Fragile) breakage-prone sites in human chromosomes Molecular Sequence Data Cell Cycle Proteins Locus (genetics) Biology Ataxia Telangiectasia Gene mapping Genetics medicine Humans Amino Acid Sequence Cloning Molecular Gene Growth Disorders Chromosome Mapping Nuclear Proteins Chromosome Breakage Syndrome medicine.disease Pedigree Nibrin Ataxia-telangiectasia Microcephaly Severe Combined Immunodeficiency Chromosome breakage Nijmegen breakage syndrome Chromosomes Human Pair 8 |
| Zdroj: | Nature Genetics, 19, 179-181 Nature Genetics, 19, pp. 179-181 |
| ISSN: | 1061-4036 |
| DOI: | 10.1038/549 |
| Popis: | Nijmegen breakage syndrome (NBS), also known as ataxia-telangiectasia (AT) variant, is an autosomal recessive disorder characterized by microcephaly, growth retardation, severe combined immunodeficiency and a high incidence of lymphoid cancers. Cells from NBS patients display chromosome instability, hypersensitivity to ionizing radiation and abnormal cell-cycle regulation after irradiation, all of which are characteristics shared with AT. Recently, the NBS locus was mapped at 8q21 by two independent approaches, complementation studies and linkage analysis. Here, we report the positional cloning of the NBS gene, NBS1, from an 800-kb candidate region. The gene comprises 50 kb and encodes a protein of 754 amino acids. The amino-terminal region of the protein shows weak homology to the yeast XRS2, MEK1, CDS1 and SPK1 proteins. The gene is expressed at high levels in the testes, suggesting that it might be involved in meiotic recombination. We detected the same 5-bp deletion in 13 individuals, and conclude that it is likely to be a founder mutation. |
| Databáze: | OpenAIRE |
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