Abstract
Williams-Beuren syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50, TRIM73 and TRIM74, belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.
| Original language | English |
|---|---|
| Pages (from-to) | 1038-1049 |
| Number of pages | 12 |
| Journal | European Journal of Human Genetics |
| Volume | 16 |
| Issue number | 9 |
| DOIs | |
| Publication status | Published - 2008 |
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ASJC Scopus subject areas
- Genetics(clinical)
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Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. / Micale, Lucia; Fusco, Carmela; Augello, Bartolomeo; Napolitano, Luisa M R; Dermitzakis, Emmanouil T.; Meroni, Germana; Merla, Giuseppe; Reymond, Alexandre.
In: European Journal of Human Genetics, Vol. 16, No. 9, 2008, p. 1038-1049.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase
AU - Micale, Lucia
AU - Fusco, Carmela
AU - Augello, Bartolomeo
AU - Napolitano, Luisa M R
AU - Dermitzakis, Emmanouil T.
AU - Meroni, Germana
AU - Merla, Giuseppe
AU - Reymond, Alexandre
PY - 2008
Y1 - 2008
N2 - Williams-Beuren syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50, TRIM73 and TRIM74, belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.
AB - Williams-Beuren syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50, TRIM73 and TRIM74, belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.
UR - http://www.scopus.com/inward/record.url?scp=50149085519&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=50149085519&partnerID=8YFLogxK
U2 - 10.1038/ejhg.2008.68
DO - 10.1038/ejhg.2008.68
M3 - Article
C2 - 18398435
AN - SCOPUS:50149085519
VL - 16
SP - 1038
EP - 1049
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 9
ER -