RGD Reference Report - Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. - Rat Genome Database
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Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

Authors: Yoshida, A  Kobayashi, K  Manya, H  Taniguchi, K  Kano, H  Mizuno, M  Inazu, T  Mitsuhashi, H  Takahashi, S  Takeuchi, M  Herrmann, R  Straub, V  Talim, B  Voit, T  Topaloglu, H  Toda, T  Endo, T 
Citation: Yoshida A, etal., Dev Cell 2001 Nov;1(5):717-24.
RGD ID: 1554293
Pubmed: (View Article at PubMed) PMID:11709191

Muscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Mammalian O-mannosyl glycosylation is a rare type of protein modification that is observed in a limited number of glycoproteins of brain, nerve, and skeletal muscle. Here we isolated a human cDNA for protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGnT1), which participates in O-mannosyl glycan synthesis. We also identified six independent mutations of the POMGnT1 gene in six patients with MEB. Expression of most frequent mutation revealed a great loss of the enzymatic activity. These findings suggest that interference in O-mannosyl glycosylation is a new pathomechanism for muscular dystrophy as well as neuronal migration disorder.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Pomgnt1  (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))

Genes (Mus musculus)
Pomgnt1  (protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase)

Genes (Homo sapiens)
POMGNT1  (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))


Additional Information