HYAL1LUCA-1, a candidate @entity5 suppressor gene on chromosome 3p21.3, is inactivated in head and neck XXXX by aberrant splicing of pre-mRNA.

@entity1 @entity5 @entity957 @entity189 @entity9906
The hyaluronidase first isolated from @entity1 plasma, @entity9906 , is expressed in many somatic tissues. The @entity9906 gene, @entity9906 , also known as @entity9906 , maps to chromosome 3p21.3 within a candidate @entity5 suppressor gene locus defined by homozygous deletions and by functional @entity5 suppressor activity. Hemizygosity in this region occurs in many @entity5 , including @entity957 of the head and neck. We have investigated whether cell lines derived from such @entity5 expressed @entity9906 activity, using normal @entity1 keratinocytes as controls. @entity9906 enzyme activity and protein were absent or markedly reduced in six of seven @entity189 cell lines examined. Comparative genomic and fluorescence in situ hybridization identified chromosomal deletions of one allele of @entity9906 in six of seven cell lines. Initial RT - PCR analyses demonstrated marked discrepancies between levels of @entity9906 mRNA and protein. Despite repeated sequence analyses, no mutations were found. However, two species of transcripts were identified when primers were used that included the 5' untranslated region. The predominant mRNA species did not correlate with protein translation and contained a retained intron. A second spliced form lacking this intron was found only in cell lines that produced @entity9906 protein. Inactivation of @entity9906 in these @entity5 lines is a result of incomplete splicing of its pre-mRNA that appears to be epigenetic in nature. Oncogene (2000) 19, 870 - 877.
