HGNC Approved Gene Symbol: PSPN
Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38) : 19:6,375,148-6,375,933 (from NCBI)
Neurotrophic factors, including persephin, are important for the proper development and maintenance of the nervous system. These factors promote neuronal survival and can prevent the neuronal degeneration associated with injury, toxin exposure, or neurodegenerative disease (summary by Milbrandt et al., 1998).
To identify genes related to the neurotrophic factors GDNF (600837) and NRTN (602018), Milbrandt et al. (1998) carried out PCR using primers based on regions that were similar in these 2 proteins. They isolated human, mouse and rat genomic fragments encoding a protein that they designated persephin, symbolized PSP. The predicted 156-amino acid human protein contains a 21-residue signal peptide. On Western blots, mature mouse PSP has a molecular mass of 10 to 12 kD. The human PSP protein shares 80% sequence identity with rat and mouse PSP, and 38% and 30% identity with NTRN and GDNF, respectively. Like other GDNF family members, the PSP gene contains an intron interrupting the prodomain. RT-PCR analysis revealed that rat PSP mRNA was expressed at low levels and was inefficiently spliced, leading Milbrandt et al. (1998) to suggest that regulation of transcript processing is an important means of regulating PSP protein production.
Milbrandt et al. (1998) found that PSP resembled GDNF and NTRN in that it exhibited neurotrophic activity on mesencephalic dopaminergic and motor neurons. Like GDNF, PSP also had effects on kidney development, as evidenced by its ability to promote ureteric bud branching. However, in contrast to GDNF and NTRN, PSP did not support any of the peripheral neurons examined. Milbrandt et al. (1998) suggested that PSP utilizes different, or additional, receptor components than do other members of the GDNF family.
By radiation hybrid mapping and somatic cell hybrid PCR, Chadwick et al. (1998) mapped the PSPN gene to chromosome 19p13.3.
Chadwick, B. P., Helbling, L. A., Angrist, M., Chakravarti, A., Gusella, J. F., Slaugenhaupt, S. A. Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR. Cytogenet. Cell Genet. 83: 236-237, 1998. [PubMed: 10072588] [Full Text: https://doi.org/10.1159/000015189]
Milbrandt, J., de Sauvage, F. J., Fahrner, T. J., Baloh, R. H., Leitner, M. L., Tansey, M. G., Lampe, P. A., Heuckeroth, R. O., Kotzbauer, P. T., Simburger, K. S., Golden, J. P., Davies, J. A., and 15 others. Persephin, a novel neurotrophic factor related to GDNF and neurturin. Neuron 20: 245-253, 1998. [PubMed: 9491986] [Full Text: https://doi.org/10.1016/s0896-6273(00)80453-5]