Genetic modulation of horizontal cell number in the mouse retina

Irene E. Whitney, Mary A. Raven, Daniel C. Ciobanu, Ross A. Poché, Qian Ding, Yasser Elshatory, Lin Gan, Robert W. Williams, Benjamin E. Reese

Research output: Contribution to journalArticlepeer-review

32 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)9697-9702
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number23
StatePublished - Jun 7 2011
Externally publishedYes


  • Allele-specific expression
  • Follistatin
  • Quantitative trait locus
  • Recombinant inbred strain

ASJC Scopus subject areas

  • General


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