what-when-how
In Depth Tutorials and Information
the consensus-binding sites of Sp1. In that regard, it has
been shown that overexpression of Osx
in vitro
induced
expression of markers such as collagen1α1, Dkk1, scleros-
tin and bone sialoprotein, reportedly from canonical Sp1-
binding sites.
42
[10]
[11]
[12]
[13]
FINAL COMMENTS
[14]
In summary, the data we present here add a new gene
to the growing number of causative loci for autosomal
recessive OI and indicate that mutations in transcrip-
tion factors that regulate the expression of osteoblast-
specific genes can also be accountable for this disorder.
Further testing is required to ascertain what proportion
of autosomal recessive cases of OI arise from mutations
in
OSX
, but preliminary data suggest that this molecu-
lar subtype of AR-OI is very rare and probably accounts
for a limited or even private number of families. It could
also be possible that the mutation we described here is
hypomorphomic and results in some residual activity of
the protein while more deleterious mutations of this gene
could be incompatible with life.
[15]
[16]
[17]
[18]
[19]
[20]
References
[21]
[22]
[23]
[24]
[25]
[26]
[27]
[28]
[29]
[30]
