The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development.

Détails

ID Serval
serval:BIB_45A7FB6EA3CE
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development.
Périodique
Genomics
Auteur(s)
Menzel O., Vellai T., Takacs-Vellai K., Reymond A., Mueller F., Antonarakis S.E., Guipponi M.
ISSN
0888-7543[print], 0888-7543[linking]
Statut éditorial
Publié
Date de publication
2004
Peer-reviewed
Oui
Volume
84
Numéro
2
Pages
320-330
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
Down syndrome (DS), as a phenotypic result of trisomy 21, is the most frequent aneuploidy at birth and the most common known genetic cause of mental retardation. DS is also characterized by other phenotypes affecting many organs, including brain, muscle, heart, limbs, gastrointestinal tract, skeleton, and blood. Any of the human chromosome 21 (Hsa21) genes may contribute to some of the DS phenotypes. To determine which of the Hsa21 genes are involved in DS, the effects of disrupting and overexpressing individual human gene orthologs in model organisms, such as the nematode Caenorhabditis elegans, can be analyzed. Here, we isolated and characterized C21orf80 (human chromosome 21 open reading frame 80), a potential novel protein O-fucosyltransferase gene that encodes three alternatively spliced transcripts. Transient expression of tagged C21orf80 proteins suggests a primary intracellular localization in the Golgi apparatus. To gain insight into the biological role of C21orf80 and its potential role in DS, we isolated its C. elegans ortholog, pad-2, and performed RNA interference (RNAi) and overexpression experiments. pad-2(RNAi) embryos showed failure to undergo normal morphogenesis. Transgenic worms with elevated dosage of pad-2 displayed severe body malformations and abnormal neuronal development. These results show that pad-2 is required for normal development and suggest potential roles for C21orf80 in the pathogenesis of DS.
Mots-clé
Amino Acid Sequence, Animals, Caenorhabditis elegans/embryology, Caenorhabditis elegans/enzymology, Caenorhabditis elegans Proteins/chemistry, Caenorhabditis elegans Proteins/genetics, Cell Line, Chromosomes, Human, Pair 21/genetics, Cloning, Molecular, Conserved Sequence/genetics, Embryo, Nonmammalian/abnormalities, Embryo, Nonmammalian/metabolism, Fertility/genetics, Fucosyltransferases/chemistry, Fucosyltransferases/genetics, Gene Expression Profiling, Gene Expression Regulation, Developmental, Humans, Molecular Sequence Data, Morphogenesis, Open Reading Frames/genetics, RNA Interference, Transfection
Pubmed
Web of science
Création de la notice
24/01/2008 16:51
Dernière modification de la notice
03/03/2018 16:46
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