GULO gene

[roniadam]

Hi All:
I have a question:
What does make GULO gene to be fuctional in rat while it has high similar sequence in human but the difference is that in human it is not functional !! can any person explain to me why from the bioinformatics side.

I know that there is a deletion of nucleotide in in position 100 at exon 10 of GULO gene which lead to inability to synthesize vit. C........ Is there any more explaniation.

[blcr11]

In primates and guinea pigs, GULO is a pseudogene. The human GULO homologue has multiple frameshift mutations caused by one or two base insertions or deletions; of the 12 exons present in the rat gene, only 5 (I think) remain in the human homologue. The gene has been frameshifted out of existence so far as functional expression of GULO is concerned. There may be other things "wrong" with the human gene, (large insertions or deletions, or point mutations, for example--I don't know what they might be) but the frameshifts alone are plenty enough to make it disfunctional as GULO. Maybe some eons from now it will be reused for something else. Maybe even the fate of some future species hangs in the balance. Who knows. (Just kidding--sort of)