Inactivation of the @entity983 gene by mutation, exonic deletion, and loss of transcript in @entity1 XXXX .

@entity1 @entity124 @entity5 @entity957 @entity4022 @entity534 @entity983 @entity367 @entity1344 @entity2596 @entity13737
@entity983 , a @entity5 suppressor gene, has been found to be inactivated by structural abnormalities or epigenetic changes in several types of @entity1 @entity5 . Recently, several studies have also suggested the possibility that the @entity983 gene is a target of genomic instability in @entity1 @entity5 displaying @entity124 ( @entity124 ). To investigate the role of @entity983 in @entity1 @entity957 , we screened the entire coding region sequences and examined the expression of the @entity983 gene in 81 @entity5 displaying @entity5 displaying @entity124 . Mutation of the @entity983 gene was identified in one @entity5 (1/81; 1.2%) and three @entity5 (3/5; 60%). The @entity5 harbored a missense mutation from Ala (GCA) to @entity2596 (GTA) at codon 137. Of the @entity5 containing the @entity983 mutation, case 36 had a missense mutation from Lys (AAA) to @entity367 (GAA) at codon 254, case 43 contained a frameshift mutation (one A deletion) in a 6 bp poly(A) tract affecting codon 265-267, and case 64 harbored two missense mutations from @entity2596 (GTG) to Ala (GCG) at codon 222, and from @entity4022 ( @entity13737 ) to @entity534 (AGA) at codon 230 indicating biallelic mutation of @entity983 . Genomic deletion of exon 5, resulting in loss of @entity983 mRNA, was observed in two @entity5 . In spite of an intact @entity983 gene, one @entity1344 and one @entity5 lacked @entity983 mRNA. These findings suggest that the inactivation of @entity983 by either mutation or loss of transcript plays a role in the pathogenesis of some @entity5 (8/86; 9.3%). Furthermore, inactivation of @entity983 was far more frequent in @entity5 (4/5; 80%) than in @entity5 (4/81; 4.9%).
