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Human molecular genetics
07 28, 2021;30 (16): 1543-1558.

Human photoreceptor cells from different macular subregions have distinct transcriptional profiles.

Andrew P Voigt, Nathaniel K Mullin, S Scott Whitmore, Adam P DeLuca, Erin R Burnight, Xiuying Liu, Budd A Tucker, Todd E Scheetz, Edwin M Stone, Robert F Mullins
Author Information
  1. Andrew P Voigt: Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  2. Nathaniel K Mullin: Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  3. S Scott Whitmore: Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  4. Adam P DeLuca: Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  5. Erin R Burnight: Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  6. Xiuying Liu: Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  7. Budd A Tucker: Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  8. Todd E Scheetz: Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  9. Edwin M Stone: Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
  10. Robert F Mullins: Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
PMID: 34014299 DOI: 10.1093/hmg/ddab140

Abstract

The human neural retina is a light sensitive tissue with remarkable spatial and cellular organization. Compared with the periphery, the central retina contains more densely packed cone photoreceptor cells with unique morphologies and synaptic wiring. Some regions of the central retina exhibit selective degeneration or preservation in response to retinal disease and the basis for this variation is unknown. In this study, we used both bulk and single-cell RNA sequencing to compare gene expression within concentric regions of the central retina. We identified unique gene expression patterns of foveal cone photoreceptor cells, including many foveal-enriched transcription factors. In addition, we found that the genes RORB1, PPFIA1 and KCNAB2 are differentially spliced in the foveal, parafoveal and macular regions. These results provide a highly detailed spatial characterization of the retinal transcriptome and highlight unique molecular features of different retinal regions.

References

  1. Cells. 2020 Feb 13;9(2): [PMID: 32069977]
  2. Exp Eye Res. 2014 Dec;129:93-106 [PMID: 25446321]
  3. J Physiol. 2016 Feb 15;594(4):895-914 [PMID: 26593130]
  4. Prog Retin Eye Res. 2015 Jan;44:15-35 [PMID: 25448922]
  5. Cell. 2020 Sep 17;182(6):1623-1640.e34 [PMID: 32946783]
  6. Int J Biol Sci. 2015 May 01;11(6):688-700 [PMID: 25999792]
  7. Nucleic Acids Res. 2016 Sep 6;44(15):e127 [PMID: 27257077]
  8. Exp Eye Res. 2020 Nov;200:108204 [PMID: 32910939]
  9. Nat Commun. 2013;4:1813 [PMID: 23652001]
  10. Neuromolecular Med. 2015 Jun;17(2):111-20 [PMID: 25680934]
  11. Nat Biotechnol. 2018 Jun;36(5):411-420 [PMID: 29608179]
  12. Development. 2013 Jul;140(14):2857-66 [PMID: 23821033]
  13. PLoS One. 2011 Apr 29;6(4):e18992 [PMID: 21559507]
  14. Gene. 1998 Aug 31;216(2):277-83 [PMID: 9729429]
  15. Nat Genet. 2016 Feb;48(2):134-43 [PMID: 26691988]
  16. Nucleic Acids Res. 2019 Jul 2;47(W1):W199-W205 [PMID: 31114916]
  17. Prog Retin Eye Res. 2021 Jul;83:100934 [PMID: 33383180]
  18. J Neurosci. 2016 Jun 22;36(25):6651-67 [PMID: 27335398]
  19. Eur J Hum Genet. 2019 Jun;27(6):928-940 [PMID: 30723319]
  20. Neuron. 2019 Jun 19;102(6):1172-1183.e5 [PMID: 31056353]
  21. Biostatistics. 2017 Jul 1;18(3):451-464 [PMID: 28334062]
  22. Exp Eye Res. 2019 Jul;184:234-242 [PMID: 31075224]
  23. Bioinformatics. 2010 Jan 1;26(1):139-40 [PMID: 19910308]
  24. Proc Natl Acad Sci U S A. 2019 Nov 26;116(48):24100-24107 [PMID: 31712411]
  25. Nucleic Acids Res. 2019 May 7;47(8):e47 [PMID: 30783653]
  26. Dev Biol. 2004 Dec 1;276(1):143-57 [PMID: 15531370]
  27. Arch Ophthalmol. 1969 Aug;82(2):151-9 [PMID: 4183671]
  28. J Biol Chem. 2014 Nov 21;289(47):32469-80 [PMID: 25296752]
  29. J Comp Neurol. 1990 Feb 22;292(4):497-523 [PMID: 2324310]
  30. J Immunol. 2016 Apr 1;196(7):3159-67 [PMID: 26927796]
  31. Bioinformatics. 2013 Jan 1;29(1):15-21 [PMID: 23104886]
  32. PLoS Genet. 2013 Jun;9(6):e1003550 [PMID: 23785297]
  33. Vision Res. 1986;26(6):847-55 [PMID: 3750868]
  34. J Comp Neurol. 1988 Mar 22;269(4):479-505 [PMID: 3372725]
  35. Am J Hum Genet. 2020 Jun 4;106(6):859-871 [PMID: 32470375]
  36. Netw Syst Med. 2020 Aug 03;3(1):105-121 [PMID: 32789304]
  37. Nat Biotechnol. 2020 Jun;38(6):708-714 [PMID: 32518404]
  38. Neuron. 2019 Jun 19;102(6):1111-1126.e5 [PMID: 31128945]
  39. Nat Commun. 2015 Nov 23;6:8794 [PMID: 26592976]
  40. Nat Commun. 2019 Dec 17;10(1):5743 [PMID: 31848347]
  41. Genes Dev. 2002 Dec 15;16(24):3142-57 [PMID: 12502737]
  42. Sci Rep. 2020 Jun 17;10(1):9802 [PMID: 32555229]
  43. Nat Genet. 2003 Jul;34(3):313-9 [PMID: 12808454]
  44. FASEB J. 2011 Mar;25(3):948-59 [PMID: 21106934]
  45. Nat Commun. 2020 Aug 13;11(1):4060 [PMID: 32792512]
  46. Br J Ophthalmol. 1974 Aug;58(8):709-14 [PMID: 4433482]
  47. J Biol Chem. 2002 Apr 12;277(15):13219-28 [PMID: 11825900]
  48. J Comp Neurol. 1990 Oct 1;300(1):5-25 [PMID: 2229487]
  49. Proc Natl Acad Sci U S A. 2016 Mar 22;113(12):3371-6 [PMID: 26951672]
  50. Mol Syst Biol. 2019 Jun 19;15(6):e8746 [PMID: 31217225]
  51. Proc Natl Acad Sci U S A. 2017 Aug 15;114(33):E6992-E7001 [PMID: 28760951]
  52. Pediatr Nephrol. 2006 Jan;21(1):32-5 [PMID: 16240161]
  53. Dev Cell. 2017 Jul 10;42(1):68-81.e6 [PMID: 28648799]
  54. PLoS Genet. 2021 Mar 25;17(3):e1009429 [PMID: 33764968]
  55. Cell Rep. 2020 Feb 4;30(5):1644-1659.e4 [PMID: 32023475]

Grants

  1. T32 GM139776/NIGMS NIH HHS
  2. F30 EY031923/NEI NIH HHS
  3. T32 GM008629/NIGMS NIH HHS
  4. R01 EY024605/NEI NIH HHS
  5. T32 GM007337/NIGMS NIH HHS

MeSH Term

Fovea Centralis
Humans
Retina
Retinal Cone Photoreceptor Cells
Retinal Diseases
Transcriptome
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't
Article has an altmetric score of 15

Word Cloud

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