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Spink2 modulates apoptotic susceptibility and is a candidate gene in the Rgcs1 QTL that affects retinal ganglion cell death after optic nerve damage.

Publication ,  Journal Article
Dietz, JA; Maes, ME; Huang, S; Yandell, BS; Schlamp, CL; Montgomery, AD; Allingham, RR; Hauser, MA; Nickells, RW
Published in: PLoS One
2014

The Rgcs1 quantitative trait locus, on mouse chromosome 5, influences susceptibility of retinal ganglion cells to acute damage of the optic nerve. Normally resistant mice (DBA/2J) congenic for the susceptible allele from BALB/cByJ mice exhibit susceptibility to ganglion cells, not only in acute optic nerve crush, but also to chronic inherited glaucoma that is characteristic of the DBA/2J strain as they age. SNP mapping of this QTL has narrowed the region of interest to 1 Mb. In this region, a single gene (Spink2) is the most likely candidate for this effect. Spink2 is expressed in retinal ganglion cells and is increased after optic nerve damage. This gene is also polymorphic between resistant and susceptible strains, containing a single conserved amino acid change (threonine to serine) and a 220 bp deletion in intron 1 that may quantitatively alter endogenous expression levels between strains. Overexpression of the different variants of Spink2 in D407 tissue culture cells also increases their susceptibility to the apoptosis-inducing agent staurosporine in a manner consistent with the differential susceptibility between the DBA/2J and BALB/cByJ strains.

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Published In

PLoS One

DOI

EISSN

1932-6203

Publication Date

2014

Volume

9

Issue

4

Start / End Page

e93564

Location

United States

Related Subject Headings

  • Serpins
  • Serine Peptidase Inhibitors, Kazal Type
  • Retinal Ganglion Cells
  • Quantitative Trait Loci
  • Polymorphism, Single Nucleotide
  • Optic Nerve
  • Molecular Sequence Data
  • Mice, Inbred DBA
  • Mice, Inbred BALB C
  • Mice
 

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Dietz, J. A., Maes, M. E., Huang, S., Yandell, B. S., Schlamp, C. L., Montgomery, A. D., … Nickells, R. W. (2014). Spink2 modulates apoptotic susceptibility and is a candidate gene in the Rgcs1 QTL that affects retinal ganglion cell death after optic nerve damage. PLoS One, 9(4), e93564. https://doi.org/10.1371/journal.pone.0093564
Dietz, Joel A., Margaret E. Maes, Shuang Huang, Brian S. Yandell, Cassandra L. Schlamp, Angela D. Montgomery, R Rand Allingham, Michael A. Hauser, and Robert W. Nickells. “Spink2 modulates apoptotic susceptibility and is a candidate gene in the Rgcs1 QTL that affects retinal ganglion cell death after optic nerve damage.PLoS One 9, no. 4 (2014): e93564. https://doi.org/10.1371/journal.pone.0093564.
Dietz JA, Maes ME, Huang S, Yandell BS, Schlamp CL, Montgomery AD, et al. Spink2 modulates apoptotic susceptibility and is a candidate gene in the Rgcs1 QTL that affects retinal ganglion cell death after optic nerve damage. PLoS One. 2014;9(4):e93564.
Dietz, Joel A., et al. “Spink2 modulates apoptotic susceptibility and is a candidate gene in the Rgcs1 QTL that affects retinal ganglion cell death after optic nerve damage.PLoS One, vol. 9, no. 4, 2014, p. e93564. Pubmed, doi:10.1371/journal.pone.0093564.
Dietz JA, Maes ME, Huang S, Yandell BS, Schlamp CL, Montgomery AD, Allingham RR, Hauser MA, Nickells RW. Spink2 modulates apoptotic susceptibility and is a candidate gene in the Rgcs1 QTL that affects retinal ganglion cell death after optic nerve damage. PLoS One. 2014;9(4):e93564.

Published In

PLoS One

DOI

EISSN

1932-6203

Publication Date

2014

Volume

9

Issue

4

Start / End Page

e93564

Location

United States

Related Subject Headings

  • Serpins
  • Serine Peptidase Inhibitors, Kazal Type
  • Retinal Ganglion Cells
  • Quantitative Trait Loci
  • Polymorphism, Single Nucleotide
  • Optic Nerve
  • Molecular Sequence Data
  • Mice, Inbred DBA
  • Mice, Inbred BALB C
  • Mice