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Human molecular genetics
10 15, 2016;25 (20): 4376-4388.

Transcriptome analysis reveals rod/cone photoreceptor specific signatures across mammalian retinas.

Debarshi Mustafi, Brian M Kevany, Xiaodong Bai, Marcin Golczak, Mark D Adams, Anthony Wynshaw-Boris, Krzysztof Palczewski
Author Information
  1. Debarshi Mustafi: Departments of Pharmacology and Cleveland Center for Membrane and Structural Biology.
  2. Brian M Kevany: Departments of Pharmacology and Cleveland Center for Membrane and Structural Biology.
  3. Xiaodong Bai: Center for RNA Molecular Biology.
  4. Marcin Golczak: Departments of Pharmacology and Cleveland Center for Membrane and Structural Biology.
  5. Mark D Adams: J. Craig Venter Institute, La Jolla, CA, USA.
  6. Anthony Wynshaw-Boris: Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.
  7. Krzysztof Palczewski: Departments of Pharmacology and Cleveland Center for Membrane and Structural Biology.
PMID: 28172828 DOI: 10.1093/hmg/ddw268

Abstract

A defined set of genetic instructions encodes functionality in complex organisms. Delineating these unique genetic signatures is essential to understanding the formation and functionality of specialized tissues. Vision, one of the five central senses of perception, is initiated by the retina and has evolved over time to produce rod and cone photoreceptors that vary in a species-specific manner, and in some cases by geographical region resulting in higher order visual acuity in humans. RNA-sequencing and use of existing and de novo transcriptome assemblies allowed ocular transcriptome mapping from a diverse set of rodent and primate species. Global genomic refinements along with systems-based comparative and co-expression analyses of these transcriptome maps identified gene modules that correlated with specific features of rod versus cone retinal cellular composition. Organization of the ocular transcriptome demonstrated herein defines the molecular basis of photoreceptor architecture and functionality, providing a new paradigm for neurogenetic analyses of the mammalian retina in health and disease.

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Grants

  1. R24 EY021126/NEI NIH HHS
  2. U01 EY025451/NEI NIH HHS

MeSH Term

Animals
Gene Expression Profiling
Humans
Macaca fascicularis
Mammals
Mice
Rats
Retinal Cone Photoreceptor Cells
Retinal Rod Photoreceptor Cells
Sequence Analysis, RNA
Transcriptome
Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Links to CNCB-NGDC Resources

GEN: GEND000599 (RNA-Seq of eye tissues from Monkey eye and retina samples)

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