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

Genomics
Olivier MenzelMichel Guipponi

Abstract

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...Continue Reading

Citations

Dec 6, 2006·Molecular Genetics and Genomics : MGG·István GyurjánLászló Orosz
May 26, 2012·American Journal of Medical Genetics. Part a·Maria Leine Guion-AlmeidaRoseli Maria Zechi-Ceide
Jan 26, 2018·G3 : Genes - Genomes - Genetics·Sarah K NordquistJonathan T Pierce
Sep 16, 2006·Glycobiology·Bing MaDiane E Taylor
Feb 9, 2006·The Journal of Biological Chemistry·Yi LuoVladislav M Panin
Jul 19, 2019·Frontiers in Molecular Biosciences·M Osman SheikhArthur S Edison
Mar 28, 2019·Frontiers in Molecular Biosciences·Katharina PaschingerIain B H Wilson
Oct 25, 2020·Trends in Genetics : TIG·Anna J MoyerRoger H Reeves

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cell Fate Specification

Cell fate specification is determined by complex signal transduction pathways including Notch and the Sonic hedgehog signaling pathway. Here is the latest research on regulation of cell fate determination.

Anthelmintics

Anthelmintics or antihelminthics are a group of antiparasitic drugs that expel parasitic worms (helminths) and other internal parasites from the body by either stunning or killing them and without causing significant damage to the host. Discover the latest research on anthelmintics here.

Anthelmintics (ASM)

Anthelmintics or antihelminthics are a group of antiparasitic drugs that expel parasitic worms (helminths) and other internal parasites from the body by either stunning or killing them and without causing significant damage to the host. Discover the latest research on anthelmintics here.