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Alizarin preparation
Origin & History: Traced to White Leghorn stock; Landauer,
W 1965 J Hered 56:131-138; held at Storrs since.
Breed: White Leghorn with Ptilopody segregating.
Symbol: nm
Characteristics: Autosomal recessive, embryonic lethal
Description: Homozygotes have distinctly shortened long bones.
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Alizarin preparation
Additional Information: The
molecular basis has been defined as a G to T transversion leading to a
premature stop.(Li et al. J Biol.
Chem. 268:23504-23511) Skeletal defects result from a deficiency of aggrecan,
the large aggregating chondroitin sulfate proteoglycan of cartilage; nanomelic
chondrocytes
produce a truncated aggregan precursor that fails to be secreted.(J
Cell Science 104:939-948)Synthesis
of a truncated precursor in cell-free translation reactions is directed
by RNA from nanomelic chondrocytes. The truncated precursor is modified
by N-linked, mannose-rich oligosaccharides and by the addition of xylose,
but is not further processed.It
can function as a substrate for Golgi-mediated glycosaminoglycan chains,
but does not do so in nanomelic chondrocytes because it fails to
be translocated to the appropriate membrane compartment.(Biochem.
J 301:211-216)