A high-resolution RNA expression atlas of Retinitis Pigmentosa genes in the human and mouse retinas
Dragana Trifunovic 1,
Marianthi Karali 1,
Davide Camposampiero 2,
Diego Ponzin 2,
Sandro Banfi 3*,
and
Valeria Marigo 4
1 Telethon Institute for Genetics and Medicine, TIGEM, Naples, Italy
2 Fondazione Banca degli Occhi del Veneto, Venice, Italy
3 TIGEM, Telethon Institute for Genetics and Medicine, Naples, Italy
4 Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy
* To whom correspondence should be addressed. E-mail: banfi{at}tigem.it.
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Abstract |
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PURPOSE: Retinitis Pigmentosa (RP) is one of the leading causes of visual handicap in the world population and is characterized by high genetic heterogeneity. The study of the disease mechanisms and the development of efficient therapeutic approaches have mostly relied on the availability of animal models for this condition, so far. Nevertheless, little information is available about the RNA expression profiles of RP genes in the human retina. To overcome this lack of information, we generated an expression atlas of 34 known RP genes in human and murine retinas.
METHODS: We retrieved appropriate templates for 34 RP genes that were used to perform RNA in situ hybridization studies on human and murine adult eyes.
RESULTS: The vast majority of the genes displayed similar patterns between human and mouse retina. We observed different expression patterns for the CNGB1, USH2A and FSCN2 genes with respect to previously reported profiles. Additionally, we detected different expression profiles for the RPGR, CA4, PAP1, RGR and RLBP1 genes in human and mouse retina.
CONCLUSIONS: We generated the first gene expression atlas of RP genes in the human and murine retina. Differences observed in the expression patterns of some genes in human and mouse, will open new perspectives on the function of these genes and their putative roles in disease pathogenesis.
Key Words:
in situ hybridization, retinitis pigmentosa, gene expression
