Search for mutations of the hRAD54 gene in sporadic meningiomas with deletion at 1p32

The hRAD54 gene is related to a family of genes involved in DNA recombinati on and repair and encodes a protein with DNA helicase activity. hRAD54 has been mapped to 1p32, a region frequently involved in deletions in a variety of tumor types, including atypical and anaplastic meningiomas. To determin e whether alterations of hRAD54 are a common event in meningeal tumors, by means of polymerase chain reaction-single-stranded conformation analysis we examined 29 tumor samples characterized by Ip deletions for hRAD54 mutatio ns. Although 18 tumors displayed allelic loss at the gene region (1p32) as determined by microsatellite marker analysis, the sole coding-sequence alte ration detected corresponded to a T --> C transition, with no amino-acid ch ange. The genotype distribution was 10.34% TT, 44.8% TC, and 44.8% CC, wher eas in the normal controls it was 3.77% TT, 13.2% TC, and 83.01% CC, and mo st meningiomas with 1p32 deletion retained allele C. Another polymorphism d ue to a T --> C change was evidenced at nt 3008, in the 3' untranslated reg ion. This change was evidenced in all cases we sequenced. These results app ear to exclude the involvement of the hRAD54 gene in the pathogenesis of th e nontypical meningiomas, although a detrimental effect of the hRAD54 polym orphisms cannot be ruled out. (C) 1999 Wiley-Liss, Inc.