Functional CASP12 gene variation between chimpanzees & humans
Caspases are
a family of cysteine-rich proteases that cleave C-terminal aspartic acid residues in target
proteins. Caspase-12 is encoded by the CASP12
locus. Comparison of humans with the other Great
Apes shows a functional 1689 nuc gene in chimps, but a pre-mature
termination mutation at nucleotide position
373 in most humans, where CGA 
TGA. [Note the two
other substitution mutations between species]. Loss of Caspase-12
function is implicated in Alzheimer Disease. In
some African populations, a read-through functional
allele is associated with reduced immunological response
to endotoxins, which can result in severe sepsis.
TGA. [Note the two
other substitution mutations between species]. Loss of Caspase-12
function is implicated in Alzheimer Disease. In
some African populations, a read-through functional
allele is associated with reduced immunological response
to endotoxins, which can result in severe sepsis. Figure & text © 2012 by Steven
M. Carr