首页>>文献首页>>文献正文

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

renchunxiao 添加于 2012/2/7 14:53:22  1343次阅读 | 0次推荐 | 0个评论

Ichthyoses comprise a heterogeneous group of genodermatoses characterized by abnormal desquamation over the whole body, for which the genetic causes of several human forms remain unknown. We used a spontaneous dog model in the golden retriever breed, which is affected by a lamellar ichthyosis resembling human autosomal recessive congenital ichthyoses (ARCI), to carry out a genome-wide association study. We identified a homozygous insertion-deletion (indel) mutation in PNPLA1 that leads to a premature stop codon in all affected golden retriever dogs. We subsequently found one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families. Further experiments highlighted the importance of PNPLA1 in the formation of the epidermal lipid barrier. This study identifies a new gene involved in human ichthyoses and provides insights into the localization and function of this yet uncharacterized member of the PNPLA protein family.

作 者:Anaïs Grall, Eric Guaguère, Sandrine Planchais, Susanne Grond, Emmanuelle Bourrat, Ingrid Hausser, Christophe Hitte, Matthieu Le Gallo, Céline Derbois, Gwang-Jin Kim, Laëtitia Lagoutte, Frédérique Degorce-Rubiales, Franz P W Radner, Anne Thomas, Sébastien Küry, Emmanuel Bensignor, Jacques Fontaine, Didier Pin, Robert Zimmermann, Rudolf Zechner, Mark Lathrop, Francis Galibert, Catherine André & Judith Fischer
期刊名称: nature genetics
期卷页: 第卷 第期 ~页
学科领域:医学科学 » 皮肤及其附属器 » 皮肤感染
添加人是否为作者:
原文链接:http://www.nature.com/ng/journal/v44/n2/full/ng.1056.html
DOI:
ISBN:
关键词:
相关报道: http://paper.sciencenet.cn/htmlpaper/2012271552325322159.shtm
备 注:
文献笔记

   
导出选项:

评论 (0 个评论)

Page 1 of 1
<<<[1]>>>

举报 | Archiver | 科学网( 京ICP备07017567 )

GMT+8, 2011-2-15 11:31

Powered by ScienceNet.cn

Copyright © 2007- 科学时报社