Identification, characterization, and mapping of a mouse homolog of the gene mutated in Nijmegen breakage syndrome

The rare autosomal recessive disorder Nijmegen breakage syndrome (NBS) resu lts from mutations in the NBS1 gene on human chromosome 8q21. A mouse homol og of the NBS1 gene was isolated and its nucleotide sequence determined. So matic cell hybrid analysis and fluorescence in situ hybridization were used to map this gene, Nbn, to mouse chromosome band 4A. Northern blotting reve aled comparable levels of Nbn transcripts in most tissues in the mouse. How ever, transcripts were elevated 10-20 fold in the testes, consistent with a possible role for the product of the Nbn gene in meiotic recombination. Co pyright (C) 1999 S. Karger AG, Basel.