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

Olivier Menzel, T. Vellai, K. Takács-Vellai, Alexandre Reymond, Fritz Mueller, Stylianos E. Antonarakis, Michel Guipponi

Research output: Contribution to journalArticle

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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 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.

Original languageEnglish
Pages (from-to)320-330
Number of pages11
JournalGenomics
Volume84
Issue number2
DOIs
Publication statusPublished - Aug 2004

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Fucosyltransferases
Chromosomes, Human, Pair 21
Caenorhabditis elegans
Human Chromosomes
Down Syndrome
Open Reading Frames
Proteins
RNA Interference
Genes
Phenotype
Golgi Apparatus
Aneuploidy
Morphogenesis
Skeleton
Intellectual Disability
Gastrointestinal Tract
Myocardium
Embryonic Structures
Extremities
Parturition

ASJC Scopus subject areas

  • Genetics

Cite this

The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development. / Menzel, Olivier; Vellai, T.; Takács-Vellai, K.; Reymond, Alexandre; Mueller, Fritz; Antonarakis, Stylianos E.; Guipponi, Michel.

In: Genomics, Vol. 84, No. 2, 08.2004, p. 320-330.

Research output: Contribution to journalArticle

Menzel, Olivier ; Vellai, T. ; Takács-Vellai, K. ; Reymond, Alexandre ; Mueller, Fritz ; Antonarakis, Stylianos E. ; Guipponi, Michel. / The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development. In: Genomics. 2004 ; Vol. 84, No. 2. pp. 320-330.
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