Abstract
Rhabdoid tumours have been shown to carry somatic mutations in the
INI1 (SMARCB1/hSNF5) gene. A considerable fraction of these tumours
exhibit allelic losses on chromosome 22. Allelic loss on 22q also
is characteristic for meningiomas, however most of these alterations
are considered to be associated with mutations of the NF2 gene. We
examined a series of 126 meningiomas for alterations in the INI1
gene. Four identical somatic mutations in exon 9 were detected resulting
in an exchange of Arg to His in position 377 of INI1. Our observations
were reproduced both by using DNA from a new round of extraction
and by employing overlapping primers. This mutational hotspot therefore
appears to be an important target in the formation of a fraction
of meningiomas. In addition, 4 novel polymorphisms of INI1 were characterized.
Our data indicate that the INI1 is a second tumour suppressor gene
on chromosome 22 that may be important for the genesis of meningiomas.
- alleles
- amino_acid_substitution
- base_sequence
- chromosomal_proteins,_non-histone
- chromosomes,_human,_pair_22,_genetics
- dna,_neoplasm,_chemistry/genetics
- dna-binding_proteins,_genetics
- dna_mutational_analysis
- exons,_genetics
- gene_frequency
- humans
- loss_of_heterozygosity
- meningeal_neoplasms,_genetics/pathology
- meningioma,_genetics/pathology
- mutation
- point_mutation
- polymorphism,_genetic
- polymorphism,_single-stranded_conformational
- transcription_factors
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