Leiden Muscular Dystrophy pages

Fukuyama type Congenital Muscular Dystrophy (fukutin, FCMD)

(last modified Septmber 08, 2006)


Summary


Kobayashi et al. (1998) report that the gene spans more than 100 kb of genomic DNA and is composed of 10 exons; exon 2 includes the translation-initiation codon. Searches of the nucleotide databases revealed no significant similarities to genes of known function. 

Northern blots revealed 6.5-kb and 7.5-kb transcripts in polyA+ messenger RNA from a variety of human tissues, with the strongest signals being obtained from heart, brain, skeletal muscle and pancreas. Transcripts were also detected in cultured lymphoblasts. This expression pattern fits quite well with the phenotype of the muscular dystrophy in FCMD patients being associated with a brain anomaly and often with fibrosis of the heart muscle as well. 

The predicted protein sequence was compared against all available databases but no significant similarity was found to any known proteins. Weak similarities were observed to the predicted translation products from Caenorhabtitis elegans cosmids W02B3 and T07A4 (GenBank U22833 and Z48055). A search for
protein motifs revealed one N-glycosylation site. The PSORT program for prediction of protein localization sites indicated that the FCMD protein has an N-terminal signal sequence with a possible cleavage site at codon 21, but that it lacks a transmembrane region. In contrast, TMpred predicted one transmembrane segment (amino acids 288306).

Japanese 3'UTR insertion

The 3,062 bp long insertion reported by Kobayashi et al. (1998) seems not to have been reported to GenBenk. Yhe authors describe the insertion as;



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