Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

Lucia Micale; Carmela Fusco; Bartolomeo Augello; Luisa M R Napolitano; Emmanouil T. Dermitzakis; Germana Meroni; Giuseppe Merla; Alexandre Reymond

doi:10.1038/ejhg.2008.68

Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

Lucia Micale, Carmela Fusco, Bartolomeo Augello, Luisa M R Napolitano, Emmanouil T. Dermitzakis, Germana Meroni, Giuseppe Merla, Alexandre Reymond

IRCCS Casa Sollievo della Sofferenza

Research output: Contribution to journal › Article › peer-review

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	https://doi.org/10.1038/ejhg.2008.68
Publication status	Published - 2008

ASJC Scopus subject areas

Genetics(clinical)

Access to Document

10.1038/ejhg.2008.68

Fingerprint Dive into the research topics of 'Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase'. Together they form a unique fingerprint.

Cite this

@article{a23d3835722740009ce22b9b0855f7a4,

title = "Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase",

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.",

author = "Lucia Micale and Carmela Fusco and Bartolomeo Augello and Napolitano, {Luisa M R} and Dermitzakis, {Emmanouil T.} and Germana Meroni and Giuseppe Merla and Alexandre Reymond",

year = "2008",

doi = "10.1038/ejhg.2008.68",

language = "English",

volume = "16",

pages = "1038--1049",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "9",

}

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 -