Human Molecular Genetics, Vol 7, 581-588, Copyright © 1998 by Oxford University Press
J Wang, A Pansky, JM Venuti, D Yaffe and U Nudel
The gene which is defective in Duchenne muscular dystrophy (DMD) is the
largest known gene. The product of the gene in muscle, dystrophin, is a 427
kDa protein. The same gene encodes at least six additional products: two
non-muscle dystrophin isoforms transcribed from promoters located in the
5'-end region of the gene and four smaller proteins transcribed from
internal promoters located further downstream. Several other genes,
encoding evolutionarily related proteins, have been identified. These
include a structurally very similar gene in vertebrates encoding utrophin
(DRP1), which is closely related to dystrophin, and a number of small and
simple genes in vertebrates or invertebrates encoding proteins similar to
some of the small products of the DMD gene. We have isolated a sea urchin
gene showing very strong sequence and structural homology with the DMD and
utrophin genes. Sequence and intron/exon structure similarities suggest
that this gene is related to a precursor of both the DMD gene and the gene
encoding utrophin. The sea urchin gene has the unique complex structure of
the DMD gene. There is at least one, and possibly more, product(s)
transcribed from internal promoters, as well as a large product of >300
kDa containing at least three of the four major domains of dystrophin. The
small product seems to be evolutionarily related to Dp116, one of the small
products of the human DMD gene. Partial characterization of this gene
helped us to construct an evolutionary tree connecting the vertebrate
dystrophin gene family with related genes in invertebrates. The constructed
evolutionary tree also implies that the vertebrate small and simple
structured gene encoding a Dp71-like protein, called DRP2 , evolved from
the dystrophin/utrophin ancestral large and complex gene by a duplication
of only a small part of the gene.
ARTICLES
A sea urchin gene encoding dystrophin-related proteins
Department of Molecular Cell Biology, Weizmann Institute of Science, Rehovot 76100, Israel.
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