[PDF][PDF] The fukutin protein family–predicted enzymes modifying cell-surface molecules

L Aravind, EV Koonin - Current biology, 1999 - cell.com
Current biology, 1999cell.com
Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder
that is observed predominantly in Japanese populations [1]. Recently, the cause of this
syndrome was discovered to be lesions in the gene encoding the protein fukutin; these
lesions involve retroposon insertion and point mutations, which result in a truncated protein
[2]. Consistent with the phenotypic patterns of the disease, the fukutin mRNA has been found
in skeletal muscles, heart, brain and pancreas [2]. Fukutin contains a signal peptide and is …
Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder that is observed predominantly in Japanese populations [1]. Recently, the cause of this syndrome was discovered to be lesions in the gene encoding the protein fukutin; these lesions involve retroposon insertion and point mutations, which result in a truncated protein [2]. Consistent with the phenotypic patterns of the disease, the fukutin mRNA has been found in skeletal muscles, heart, brain and pancreas [2]. Fukutin contains a signal peptide and is localized to the Golgi and secretory granules [2]. Here, we report on a detailed computer analysis of the fukutin protein sequence, resulting in the prediction that it is an enzyme that modifies cell-surface glycoproteins or glycolipids. A gapped BLASTP [3] search of the non-redundant (NR) database at the National Center for Biotechnology Information using the fukutin sequence as the query revealed significant hits (with evalues< 10–9) not only to
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