Disease relevance of SPE4

• A large reduction in spermine synthase in human males due to a splice site variant causes Snyder-Robinson syndrome with mental retardation, hypotonia and skeletal abnormalities [1].
• However, Gy mice lacking spermine synthase have multiple symptoms including a profound growth retardation, sterility, deafness, neurological abnormalities and a propensity to sudden death, which can all be prevented by transgenic expression of spermine synthase [1].

High impact information on SPE4

• Two types of spermine synthase gene: MdACL5 and MdSPMS are differentially involved in apple fruit development and cell growth [2].
• In order to investigate the physiological roles of spermine, we identified the SPE4 gene, which codes for spermine synthase, on the right arm of chromosome XII of Saccharomyces cerevisiae and prepared a deletion mutant in this gene [3].
• This mutant has neither spermine nor spermine synthase activity [3].
• This suggests that ornithine decarboxylase activity is negatively controlled by the presence of spermidine aminopropyltransferase [4].
• The best known aminopropyltransferases are spermidine synthase and spermine synthase but other members of this family including an N(1)-aminopropylagmatine synthase have been characterized [1].

Biological context of SPE4

• The higher homologues of cadaverine, aminopropylcadaverine (APC) and N,N-bis(3-aminopropyl)cadaverine (3APC) were formed by a wild-type strain of Saccharomyces cerevisiae, and by two mutant strains, spe 3-1 and spe 4-1, exhibiting point mutations in the genes for spermidine synthase and spermine synthase, respectively [5].

Associations of SPE4 with chemical compounds

• A polyamine autotroph S. cerevisiae 179-5, which lacks ornithine decarboxylase, produced both aminopropylcadaverine and aminopropylhomospermidine, while another mutant S. cerevisiae Y 260 A, which lacks spermine synthase, formed only aminopropylcadaverine [6].

References