mirage

UBE3A regulates MC1R expression : a link to hypopigmentation in Angelman Syndrome.

DSpace/Manakin Repository

 

Search DR-NTU


Advanced Search Subject Search

Browse

My Account

UBE3A regulates MC1R expression : a link to hypopigmentation in Angelman Syndrome.

Show simple item record

dc.contributor.author Low, Daren.
dc.contributor.author Chen, Ken-Shiung.
dc.date.accessioned 2011-10-06T07:31:45Z
dc.date.available 2011-10-06T07:31:45Z
dc.date.copyright 2011
dc.date.issued 2011-10-06
dc.identifier.citation Low, D., & Chen, K.-S. (2011). UBE3A regulates MC1R expression : a link to hypopigmentation in Angelman Syndrome. Pigment cell and melanoma research, 24(5), 944-952.
dc.identifier.issn 1755-1471
dc.identifier.uri http://hdl.handle.net/10220/7171
dc.description.abstract Angelman Syndrome (AS) is a neurogenetic disorder caused by the lack of functional ubiquitin-protein ligase E3A (UBE3A) that acts as an E3 ligase in the ubiquitin-proteosomal degradation pathway and/or as a transcriptional coactivator. Besides neurological deficit, hypopigmentation is another phenotype associated with AS patients currently attributed to the hemizygosity of the type II oculocutaneous albinism (OCA2) gene. Here we show that the melanocortin-1-receptor (MC1R) is down-regulated in the skin of the Ube3a((-/-)) mice. Luciferase-reporter assay shows that UBE3A is able to induce MC1R promoter activity. Using chromatin immunoprecipitation assay, Ube3a was observed to be physically associated with the Mc1r promoter. Deletion of the E box/SP1 element in the MC1R minimal promoter abolishes the ability of UBE3A to elevate MC1R promoter-luciferase reporter activity. Ube3a((-/-)) mice also show relative skin hypopigmentation. These results demonstrate that UBE3A plays a role in MC1R transcriptional regulation which can contribute to the development of hypopigmentation in AS patients.
dc.format.extent 21 p.
dc.language.iso en
dc.relation.ispartofseries Pigment cell and melanoma research
dc.rights © 2011 John Wiley & Sons A/S.
dc.subject DRNTU::Science::Biological sciences::Molecular biology.
dc.title UBE3A regulates MC1R expression : a link to hypopigmentation in Angelman Syndrome.
dc.type Journal Article
dc.contributor.school School of Biological Sciences
dc.identifier.doi http://dx.doi.org/10.1111/j.1755-148X.2011.00884.x

Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record

Statistics

Total views

All Items Views
UBE3A regulates MC1R expression : a link to hypopigmentation in Angelman Syndrome. 435

Total downloads

All Bitstreams Views
manuscript UBE3A MC1R final.pdf 6

Top country downloads

Country Code Views
Singapore 4

Top city downloads

city Views
Singapore 4