Psychiatry related information on spe-4

• The spe-4 encoded integral membrane protein is a diverged member of the presenilin family implicated in early onset Alzheimer's disease [1].

High impact information on spe-4

• We have cloned the spe-4 gene in order to understand its role during spermatogenesis and the molecular basis of how mutation of this gene disrupts this process [2].
• Mutations in the spe-4 (spermatogenesis-defective) gene disrupt these organelles and prevent cytokinesis during spermatogenesis, but do not prevent completion of the meiotic nuclear divisions that normally accompany spermatid formation [2].
• Although sperm morphogenesis in spe-4 mutants arrests prior to the formation of spermatids, meiosis can apparently be completed so that haploid nuclei reside in an arrested spermatocyte [2].
• Work on the Caenorhabditis elegans homologues of the presenilins, spe-4 and sel-12, suggests that the presenilins may have a more general and direct role in the processing and trafficking of membrane-bound proteins and that, in part, the pathogenic mutations may disrupt this role [3].
• One of these missense mutations is located within a motif that is common to all presenilins. spe-4 mutants were also examined for other partitioning defects and tubulin was found to accumulate in unusual deposits close to the plasma membrane [1].

References