Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22

A. De Luca, A. Pasini, F. Amati, A. Botta, G. Spallette, S. Alimenti, F. Caccamo, E. Conti, J. Trakalo, F. Macciardi, B. Dallapiccola, G. Novelli

Research output: Contribution to journalArticlepeer-review


Schizophrenia or schizoaffective disorders are often found in patients affected by DiGeorge/velo-cardio-facial syndrome (DGS/VCFS) as a result of hemizygosity of chromosome 22q11.2. We evaluated the UFD1L, gene mapped within the DGS/VCFS region, as a potential candidate for schizophrenia susceptibility. UFD1L encodes the Ubiquitin Fusion Degradation 1 Protein, which is expressed in the medical telencephalon during mouse development. UFD1L mRNA and protein were investigated by RT-PCR and Western blot analysis. The UFD1L promoter-277A/G polymorphism was determined using a polymerase chain reaction-based method in DNA samples from 61 patients with DSM-IV schizophrenia and 67 healthy control subjects. Results were confirmed in 22 nuclear families using a TDT analysis. We demonstrated the presence of UFD1L mRNA and protein in different areas of the human brain, and found a positive association between a novel intragenic SNP (Single Nucleotide Polymorphism) and schizophrenia. We demonstrated that the -277A variant of this SNP is associated with schizophrenia susceptibility. In addition, we also provided evidence that this allele variant causes a 55% increase in the transcriptional activity of UFD1L gene. This result suggests the involvement of the UFD1L gene in susceptibility to schizophrenia. This research was supported by a grant from the Italian Ministry of Health and grants E723 and 264/bi from Telethon Foundation.

Original languageEnglish
Pages (from-to)533
Number of pages1
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number4
Publication statusPublished - Aug 7 2000

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)


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