| First Author | Whitney IE | Year | 2011 |
| Journal | Proc Natl Acad Sci U S A | Volume | 108 |
| Issue | 23 | Pages | 9697-702 |
| PubMed ID | 21576457 | Mgi Jnum | J:173233 |
| Mgi Id | MGI:5013659 | Doi | 10.1073/pnas.1103253108 |
| Citation | Whitney IE, et al. (2011) Genetic modulation of horizontal cell number in the mouse retina. Proc Natl Acad Sci U S A 108(23):9697-702 |
| abstractText | Neuronal populations display conspicuous variability in their size among individuals, but the genetic sources of this variation are largely undefined. We demonstrate a large and highly heritable variation in neuron number within the mouse retina, affecting a critical population of interneurons, the horizontal cells. Variation in the size of this population maps to the distal end of chromosome (Chr) 13, a region homologous to human Chr 5q11.1-11.2. This region contains two genes known to modulate retinal cell number. Using conditional knock-out mice, we demonstrate that one of these genes, the LIM homeodomain gene Islet-1 (Isl1), plays a role in regulating horizontal cell number. Genetic differences in Isl1 expression are high during the period of horizontal cell production, and cis-regulation of Isl1 expression within the retina is demonstrated directly. We identify a single nucleotide polymorphism in the 5' UTR of Isl1 that creates an E-box sequence as a candidate causal variant contributing to this variation in horizontal cell number. |
