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Methylation studies of genes located in the chromosome region 1p36.2 in
neuroblastoma tumors
Helena Carén1, Susanne Fransson1, Rose-Marie Sjöberg1, Katarina Ejeskär1, Luke Hesson2, Farida
Latif2, Tommy Martinsson1
Department of Clinical Genetics1 and Section of Medical and Molecular Genetics2, Department of Paediatrics and Child Health,
Göteborg University, Sahlgrenska Univ Hospital, Sweden.
The distal part of chromosome 1p shows LOH in 20-40% of neuroblastoma tumors and has therefore
been alleged to contain one or more tumor suppressor genes. We and others have previously narrowed
down this region to 1p36.2-3 and more specifically to the gene region involving the genes: UBE4B-KIF1BPGD-CORT-DFFA-PEX14. The known genes in the region have been analyzed for mutations and a few
have been found in rare tumors. The genes are all, except for CORT, associated with a CpG island in
their respective promoter regions. Methylation of CpG islands is a common mechanism for the
inactivation of tumor suppressor genes and has been found in a wide range of tumor types. The most
common way to analyze methylation status is based on bisulfite modification of DNA. In the current study,
expression studies for the genes on 1p36.2 have been performed and the promoter regions of the genes
that are associated with CpG islands have been analyzed for hypermethylation. Results from TaqMan
expression analyses have revealed that some of the genes are less expressed in high stage tumors, as
compared to lower stages. The studies show that the genes KIF1B, PGD, DFFA and PEX14 are not
methylated in the neuroblastoma cell lines studied. Further studies on additional genes and also in
primary neuroblastoma tumors are ongoing.
Presentation mode(s): POSTER-PRESENTATION