title: Analysis of transcripts from 17p13.3 in medulloblastoma suggests ROX/MNT as a potential tumour suppressor gene.
abstract: Haploinsufficiency of the human 17p13.3 region is associated with 35% to 50% of medulloblastomas, indicating the presence of one or more tumour suppressor genes which have not yet been identified. Of 119 genes residing in this region, seven genes--14-3-3epsilon (YWHAE), HIC-1, ROX/MNT (a helix-loop-helix transcription factor and member of the MYC/MAX superfamily), KIAA0399, UBE2G1 (ubiquitin ligase), ALOX15, and MINK--encode proteins with potential links to cancer. We investigated these genes and found significant levels of expression of ROX/MNT in adult human cerebellum, and in embryonic and postnatal mouse cerebellum. Six of 14 medulloblastomas showed a reduction of ROX/MNT expression, accompanied by a reduction of both UBE2G1 and 14-3-3epsilon in three tumours and a reduction of UBE2G1 in one tumour. Moreover, the relative expression of MYC to ROX/MNT was increased in 4 of the 14 medulloblastomas. Collectively, these data suggest that ROX/MNT should be considered a potential tumour suppressor gene in medulloblastoma.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Albert Einstein College of Medicine, Bronx, NY 10461, USA. cvekl@aecon.yu.edu
authors.forename: Ales
authors.initials: A
authors.lastname: Cvekl
authors.forename: Jiri
authors.initials: J
authors.lastname: Zavadil
authors.forename: Barbara K
authors.initials: BK
authors.lastname: Birshtein
authors.forename: Michael A
authors.initials: MA
authors.lastname: Grotzer
authors.forename: Ales
authors.initials: A
authors.lastname: Cvekl
mesh_terms: D000293:Adolescent; D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D002528:Cerebellar Neoplasms / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D015972:Gene Expression Regulation, Neoplastic; D016147:Genes, Tumor Suppressor; D006801:Humans; D007223:Infant; D008527:Medulloblastoma / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors; D014158:Transcription, Genetic
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C106465:MNT protein, human; D012097:Repressor Proteins; D014157:Transcription Factors