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. ??????? it.cilea.surplus.oa.citation.tipologie.CitationProceedings.prensentedAt ??????? World Congress on Psychiatric Genetics,, Versailles, France.

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

Pasini, A;Amati, F;Botta, A;Novelli, G
2000-01-01

Abstract

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.
World Congress on Psychiatric Genetics,
Versailles, France
2000
Rilevanza internazionale
contributo
2000
Settore MED/03 - GENETICA MEDICA
Settore MED/39 - NEUROPSICHIATRIA INFANTILE
English
Intervento a convegno
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. ??????? it.cilea.surplus.oa.citation.tipologie.CitationProceedings.prensentedAt ??????? World Congress on Psychiatric Genetics,, Versailles, France.
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...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/49980
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