Identification and characterization of a novel member of the dystrobrevin gene family.
A new member of the dystrobrevin gene family was identified using a bioinformatics approach. Sequence analysis indicates that this gene, named DTN-B, is highly homologous to the rabbit A0, the previously described dystrobrevin (DTN), Torpedo 87 kDa and to the C-terminus of dystrophin. The coiled-coil domain, shown to be the site of interaction between dystrobrevins and dystrophin, is highly conserved. Immunostaining studies indicate that DTN-B and DTN expression is absent in affected muscle fibers from DMD patients and carriers.
Puca
A A
AA
Telethon Institute of Genetics and Medicine (TIGEM), Milan, Italy.
Nigro
V
V
Piluso
G
G
Belsito
A
A
Sampaolo
S
S
Quaderi
N
N
Rossi
E
E
Di Iorio
G
G
Ballabio
A
A
Franco
B
B
D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D015153:Blotting, Western; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002889:Chromosomes, Human, Pair 2; D018076:DNA, Complementary; D049029:Dystrophin-Associated Proteins; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D051379:Mice; D008969:Molecular Sequence Data; D005810:Multigene Family; D018482:Muscle, Skeletal / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics; D009479:Neuropeptides / Q000235:genetics*; D012326:RNA Splicing; D011817:Rabbits; D017386:Sequence Homology, Amino Acid; D014407:Tumor Cells, Cultured
D018076:DNA, Complementary; C111539:DTNB protein, human; D049029:Dystrophin-Associated Proteins; D009479:Neuropeptides