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The two human homologues of yeast UFD2 ubiquitination factor, UBE4A and UBE4B, are located in common neuroblastoma deletion regions and are subject to mutations in tumours.

Journal article
Authors Helena Carén
Annika Holmstrand
Rose-Marie Sjöberg
Tommy Martinsson
Published in European journal of cancer (Oxford, England : 1990)
Volume 42
Issue 3
Pages 381-7
ISSN 0959-8049
Publication year 2006
Published at Institute of Biomedicine, Department of Medical and Clinical Genetics
Pages 381-7
Language en
Keywords Amino Acid Sequence, Chromosome Deletion, Chromosomes, Human, Pair 1, genetics, Chromosomes, Human, Pair 11, genetics, Humans, Mutation, Missense, genetics, Nervous System Neoplasms, genetics, Neural Crest, Neuroblastoma, genetics, Nucleic Acid Amplification Techniques, methods, Polymerase Chain Reaction, methods, Polymorphism, Genetic, genetics, Sequence Alignment, Tumor Suppressor Proteins, genetics, Ubiquitin-Protein Ligases, genetics
Subject categories Medical and Health Sciences


Chromosomes 11q and 1p are commonly deleted in advanced-stage neuroblastomas and are therefore assumed to contain tumour suppressor genes involved in the development of this cancer. The two UFD2 yeast gene human homologues, UBE4A and UBE4B, involved in the ubiquitin/proteasome pathway, are located in 11q and 1p, respectively. UBE4B has previously been analysed for mutations and one mutation in the splice donor site of exon 9, c.1439 + 1G > C, was found in a neuroblastoma tumour with fatal outcome. We speculated that the homologue UBE4A might be involved in an alternative tumourigenesis pathway. The coding exons of UBE4A were therefore sequenced. One putative missense mutation (1028T > C, leading to I343T, residing in exon 8) was found in neuroblastoma tumour 20R8; this finding was confirmed by sequencing in both directions. The change, isoleucine (non-polar) to threonine (polar), was situated in a highly conserved amino acid region. In addition, two novel variants were also found in intronic sequences of UBE4A. It might be speculated that the proteins generated from UBE4B and UBE4A are involved in protecting the cell from environmental stress and that inactivation of either of them could contribute to malignancy.

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