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.
De Luca, A., Pasini, A., Amati, F., Botta, A., Spalletta, G., Alimenti, S., et al. (2000). Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22. Paper presented at World Congress on Psychiatric Genetics,, Versailles, France.
|Autori:||De Luca, A; Pasini, A; Amati, F; Botta, A; Spalletta, G; Alimenti, S; Caccamo, F; Conti, E; Trakalo, J; Macciardi, F; Macciardi, B; Novelli, G|
|Titolo:||Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22|
|Nome del convegno:||World Congress on Psychiatric Genetics,|
|Luogo del convegno:||Versailles, France|
|Anno del convegno:||2000|
|Numero del convegno:||8°|
|Data di pubblicazione:||2000|
|Settore Scientifico Disciplinare:||Settore MED/03 - Genetica Medica|
Settore MED/39 - Neuropsichiatria Infantile
|Tipologia:||Intervento a convegno|
|Citazione:||De Luca, A., Pasini, A., Amati, F., Botta, A., Spalletta, G., Alimenti, S., et al. (2000). Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22. Paper presented at World Congress on Psychiatric Genetics,, Versailles, France.|
|Appare nelle tipologie:||02 - Intervento a convegno|