RGD Reference Report - Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. - Rat Genome Database

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Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.

Authors: Wright, AF  Chakarova, CF  Abd El-Aziz, MM  Bhattacharya, SS 
Citation: Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717.
RGD ID: 8547536
Pubmed: PMID:20212494   (View Abstract at PubMed)
DOI: DOI:10.1038/nrg2717   (Journal Full-text)

The retina provides exquisitely sensitive vision that relies on the integrity of a uniquely vulnerable cell, the photoreceptor (PR). The genetic and mechanistic causes of retinal degeneration due to PR cell death--which occurs in conditions such as retinitis pigmentosa and age-related macular degeneration--are being successfully dissected. Over one hundred loci, some containing common variants but most containing rare variants, are implicated in the genetic architecture of this complex trait. This genetic heterogeneity results in equally diverse disease mechanisms that affect almost every aspect of PR function but converge on a common cell death pathway. Although genetic and mechanistic diversity creates challenges for therapy, some approaches--particularly gene-replacement therapy--are showing considerable promise.


Molecular Pathway Annotations    Click to see Annotation Detail View

RGD Manual Annotations

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
altered retinoid cycle metabolic pathway   TAS 8547536; 8547536; 8547536; 8547536; 8547536; 8547536 RGD 
altered retinoid cycle metabolic pathway   ISOABCA4 (Homo sapiens)8547536; 8547536 RGD 
altered retinoid cycle metabolic pathway   ISOLRAT (Homo sapiens)8547536; 8547536 RGD 
altered retinoid cycle metabolic pathway   ISORBP3 (Homo sapiens)8547536; 8547536 RGD 
altered retinoid cycle metabolic pathway   ISORDH12 (Homo sapiens)8547536; 8547536 RGD 
altered retinoid cycle metabolic pathway   ISORLBP1 (Homo sapiens)8547536; 8547536 RGD 
altered retinoid cycle metabolic pathway   ISORPE65 (Homo sapiens)8547536; 8547536 RGD 
altered visual phototransduction pathway   TAS 8547536; 8547536; 8547536; 8547536; 8547536; 8547536; 8547536; 8547536 RGD 
altered visual phototransduction pathway   ISOCNGA1 (Homo sapiens)8547536; 8547536 RGD 
altered visual phototransduction pathway   ISOCNGB1 (Homo sapiens)8547536; 8547536 RGD 
altered visual phototransduction pathway   ISOGUCA1B (Homo sapiens)8547536; 8547536 RGD 
altered visual phototransduction pathway   ISOPDE6A (Homo sapiens)8547536; 8547536 RGD 
altered visual phototransduction pathway   ISOPDE6B (Homo sapiens)8547536; 8547536 RGD 
altered visual phototransduction pathway   ISOPDE6G (Homo sapiens)8547536; 8547536 RGD 
altered visual phototransduction pathway   ISORHO (Homo sapiens)8547536; 8547536 RGD 
altered visual phototransduction pathway   ISOSAG (Homo sapiens)8547536; 8547536 RGD 
retinitis pigmentosa pathway   TAS 8547536; 8547536; 8547536; 8547536; 8547536 RGD 
retinitis pigmentosa pathway   ISOCDH23 (Homo sapiens)8547536; 8547536 RGD 
retinitis pigmentosa pathway   ISOMYO7A (Homo sapiens)8547536; 8547536 RGD 
retinitis pigmentosa pathway   ISOPCDH15 (Homo sapiens)8547536; 8547536 RGD 
retinitis pigmentosa pathway   ISOUSH1C (Homo sapiens)8547536; 8547536 RGD 
retinitis pigmentosa pathway   ISOUSH1G (Homo sapiens)8547536; 8547536 RGD 
Objects Annotated

Genes (Rattus norvegicus)
Abca4  (ATP binding cassette subfamily A member 4)
Cdh23  (cadherin-related 23)
Cnga1  (cyclic nucleotide gated channel subunit alpha 1)
Cngb1  (cyclic nucleotide gated channel subunit beta 1)
Guca1b  (guanylate cyclase activator 1B)
Lrat  (lecithin retinol acyltransferase)
Myo7a  (myosin VIIA)
Pcdh15  (protocadherin related 15)
Pde6a  (phosphodiesterase 6A)
Pde6b  (phosphodiesterase 6B)
Pde6g  (phosphodiesterase 6G)
Rbp3  (retinol binding protein 3)
Rdh12  (retinol dehydrogenase 12)
Rho  (rhodopsin)
Rlbp1  (retinaldehyde binding protein 1)
Rpe65  (retinoid isomerohydrolase RPE65)
Sag  (S-antigen visual arrestin)
Ush1c  (USH1 protein network component harmonin)
Ush1g  (USH1 protein network component sans)

Genes (Mus musculus)
Abca4  (ATP-binding cassette, sub-family A member 4)
Cdh23  (cadherin related 23 (otocadherin))
Cnga1  (cyclic nucleotide gated channel alpha 1)
Cngb1  (cyclic nucleotide gated channel beta 1)
Guca1b  (guanylate cyclase activator 1B)
Lrat  (lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase))
Myo7a  (myosin VIIA)
Pcdh15  (protocadherin 15)
Pde6a  (phosphodiesterase 6A, cGMP-specific, rod, alpha)
Pde6b  (phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide)
Pde6g  (phosphodiesterase 6G, cGMP-specific, rod, gamma)
Rbp3  (retinol binding protein 3, interstitial)
Rdh12  (retinol dehydrogenase 12)
Rho  (rhodopsin)
Rlbp1  (retinaldehyde binding protein 1)
Rpe65  (retinal pigment epithelium 65)
Sag  (S-antigen, retina and pineal gland (arrestin))
Ush1c  (USH1 protein network component harmonin)
Ush1g  (USH1 protein network component sans)

Genes (Homo sapiens)
ABCA4  (ATP binding cassette subfamily A member 4)
CDH23  (cadherin related 23)
CNGA1  (cyclic nucleotide gated channel subunit alpha 1)
CNGB1  (cyclic nucleotide gated channel subunit beta 1)
GUCA1B  (guanylate cyclase activator 1B)
LRAT  (lecithin retinol acyltransferase)
MYO7A  (myosin VIIA)
PCDH15  (protocadherin related 15)
PDE6A  (phosphodiesterase 6A)
PDE6B  (phosphodiesterase 6B)
PDE6G  (phosphodiesterase 6G)
RBP3  (retinol binding protein 3)
RDH12  (retinol dehydrogenase 12)
RHO  (rhodopsin)
RLBP1  (retinaldehyde binding protein 1)
RPE65  (retinoid isomerohydrolase RPE65)
SAG  (S-antigen visual arrestin)
USH1C  (USH1 protein network component harmonin)
USH1G  (USH1 protein network component sans)


Additional Information