A high-resolution RNA expression atlas of retinitis pigmentosa genes in human and mouse retinas.
OBJECTIVE
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. An expression atlas of 34 known RP genes in human and murine retinas was generated to overcome this lack of information.


METHODS
Appropriate templates were retrieved for 34 RP genes that were used to perform RNA in situ hybridization studies on human and murine adult eyes.


RESULTS
Most of the genes displayed similar patterns between human and mouse retina. Different expression patterns were observed for the CNGB1, USH2A, and FSCN2 genes, compared with those in previously reported profiles. In addition, different expression profiles were detected for the RPGR, CA4, PAP1, RGR, and RLBP1 genes in human and mouse retinas.


CONCLUSIONS
The first gene expression atlas has been generated of RP genes in human and murine retinas. Differences observed in the expression patterns of some genes in humans and mice, will open new perspectives on the function of these genes and their putative roles in disease pathogenesis.
Trifunovic
Dragana
D
Telethon Institute of Genetics and Medicine, Naples, Italy.
Karali
Marianthi
M
Camposampiero
Davide
D
Ponzin
Diego
D
Banfi
Sandro
S
Marigo
Valeria
V
D000328:Adult; D000818:Animals; D005136:Eye Proteins / Q000235:genetics*; D005786:Gene Expression Regulation / Q000502:physiology*; D006801:Humans; D017403:In Situ Hybridization; D051379:Mice; D008875:Middle Aged; D000073718:Pancreatitis-Associated Proteins; D012313:RNA / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism; D012160:Retina / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
D005136:Eye Proteins; D000073718:Pancreatitis-Associated Proteins; C000612141:REG3A protein, human; D012333:RNA, Messenger; D012313:RNA