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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CDH23Humanretinitis pigmentosa  TAS  RGD 
Cdh23Mouseretinitis pigmentosa  ISOCDH23 (Homo sapiens) RGD 
Cdh23Ratretinitis pigmentosa  ISOCDH23 (Homo sapiens) RGD 
MYO7AHumanretinitis pigmentosa  TAS  RGD 
Myo7aMouseretinitis pigmentosa  ISOMYO7A (Homo sapiens) RGD 
Myo7aRatretinitis pigmentosa  ISOMYO7A (Homo sapiens) RGD 
PCDH15Humanretinitis pigmentosa  TAS  RGD 
Pcdh15Mouseretinitis pigmentosa  ISOPCDH15 (Homo sapiens) RGD 
Pcdh15Ratretinitis pigmentosa  ISOPCDH15 (Homo sapiens) RGD 
USH1CHumanretinitis pigmentosa  TAS  RGD 
USH1GHumanretinitis pigmentosa  TAS  RGD 
Ush1cMouseretinitis pigmentosa  ISOUSH1C (Homo sapiens) RGD 
Ush1cRatretinitis pigmentosa  ISOUSH1C (Homo sapiens) RGD 
Ush1gRatretinitis pigmentosa  ISOUSH1G (Homo sapiens) RGD 
Ush1gMouseretinitis pigmentosa  ISOUSH1G (Homo sapiens) RGD 
CDH23HumanUsher syndrome  TAS  RGD 
Cdh23RatUsher syndrome  ISOCDH23 (Homo sapiens) RGD 
Cdh23MouseUsher syndrome  ISOCDH23 (Homo sapiens) RGD 
MYO7AHumanUsher syndrome  TAS  RGD 
Myo7aRatUsher syndrome  ISOMYO7A (Homo sapiens) RGD 
Myo7aMouseUsher syndrome  ISOMYO7A (Homo sapiens) RGD 
PCDH15HumanUsher syndrome  TAS  RGD 
Pcdh15RatUsher syndrome  ISOPCDH15 (Homo sapiens) RGD 
Pcdh15MouseUsher syndrome  ISOPCDH15 (Homo sapiens) RGD 
USH1CHumanUsher syndrome  TAS  RGD 
USH1GHumanUsher syndrome  TAS  RGD 
Ush1cRatUsher syndrome  ISOUSH1C (Homo sapiens) RGD 
Ush1cMouseUsher syndrome  ISOUSH1C (Homo sapiens) RGD 
Ush1gRatUsher syndrome  ISOUSH1G (Homo sapiens) RGD 
Ush1gMouseUsher syndrome  ISOUSH1G (Homo sapiens) RGD 

Molecular Pathway Annotations    Click to see Annotation Detail View

RGD Manual Annotations


  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ABCA4Humanaltered retinoid cycle metabolic pathway   TAS  RGD 
Abca4Rataltered retinoid cycle metabolic pathway   ISOABCA4 (Homo sapiens) RGD 
Abca4Mousealtered retinoid cycle metabolic pathway   ISOABCA4 (Homo sapiens) RGD 
LRATHumanaltered retinoid cycle metabolic pathway   TAS  RGD 
LratRataltered retinoid cycle metabolic pathway   ISOLRAT (Homo sapiens) RGD 
LratMousealtered retinoid cycle metabolic pathway   ISOLRAT (Homo sapiens) RGD 
RBP3Humanaltered retinoid cycle metabolic pathway   TAS  RGD 
RDH12Humanaltered retinoid cycle metabolic pathway   TAS  RGD 
RLBP1Humanaltered retinoid cycle metabolic pathway   TAS  RGD 
RPE65Humanaltered retinoid cycle metabolic pathway   TAS  RGD 
Rbp3Rataltered retinoid cycle metabolic pathway   ISORBP3 (Homo sapiens) RGD 
Rbp3Mousealtered retinoid cycle metabolic pathway   ISORBP3 (Homo sapiens) RGD 
Rdh12Rataltered retinoid cycle metabolic pathway   ISORDH12 (Homo sapiens) RGD 
Rdh12Mousealtered retinoid cycle metabolic pathway   ISORDH12 (Homo sapiens) RGD 
Rlbp1Rataltered retinoid cycle metabolic pathway   ISORLBP1 (Homo sapiens) RGD 
Rlbp1Mousealtered retinoid cycle metabolic pathway   ISORLBP1 (Homo sapiens) RGD 
Rpe65Rataltered retinoid cycle metabolic pathway   ISORPE65 (Homo sapiens) RGD 
Rpe65Mousealtered retinoid cycle metabolic pathway   ISORPE65 (Homo sapiens) RGD 
CNGA1Humanaltered visual phototransduction pathway   TAS  RGD 
CNGB1Humanaltered visual phototransduction pathway   TAS  RGD 
Cnga1Rataltered visual phototransduction pathway   ISOCNGA1 (Homo sapiens) RGD 
Cnga1Mousealtered visual phototransduction pathway   ISOCNGA1 (Homo sapiens) RGD 
Cngb1Rataltered visual phototransduction pathway   ISOCNGB1 (Homo sapiens) RGD 
Cngb1Mousealtered visual phototransduction pathway   ISOCNGB1 (Homo sapiens) RGD 
GUCA1BHumanaltered visual phototransduction pathway   TAS  RGD 
Guca1bRataltered visual phototransduction pathway   ISOGUCA1B (Homo sapiens) RGD 
Guca1bMousealtered visual phototransduction pathway   ISOGUCA1B (Homo sapiens) RGD 
PDE6AHumanaltered visual phototransduction pathway   TAS  RGD 
PDE6BHumanaltered visual phototransduction pathway   TAS  RGD 
PDE6GHumanaltered visual phototransduction pathway   TAS  RGD 
Pde6aRataltered visual phototransduction pathway   ISOPDE6A (Homo sapiens) RGD 
Pde6aMousealtered visual phototransduction pathway   ISOPDE6A (Homo sapiens) RGD 
Pde6bRataltered visual phototransduction pathway   ISOPDE6B (Homo sapiens) RGD 
Pde6bMousealtered visual phototransduction pathway   ISOPDE6B (Homo sapiens) RGD 
Pde6gRataltered visual phototransduction pathway   ISOPDE6G (Homo sapiens) RGD 
Pde6gMousealtered visual phototransduction pathway   ISOPDE6G (Homo sapiens) RGD 
RHOHumanaltered visual phototransduction pathway   TAS  RGD 
RhoRataltered visual phototransduction pathway   ISORHO (Homo sapiens) RGD 
RhoMousealtered visual phototransduction pathway   ISORHO (Homo sapiens) RGD 
SAGHumanaltered visual phototransduction pathway   TAS  RGD 
SagRataltered visual phototransduction pathway   ISOSAG (Homo sapiens) RGD 
SagMousealtered visual phototransduction pathway   ISOSAG (Homo sapiens) RGD 
CDH23Humanretinitis pigmentosa pathway   TAS  RGD 
Cdh23Mouseretinitis pigmentosa pathway   ISOCDH23 (Homo sapiens) RGD 
Cdh23Ratretinitis pigmentosa pathway   ISOCDH23 (Homo sapiens) RGD 
MYO7AHumanretinitis pigmentosa pathway   TAS  RGD 
Myo7aMouseretinitis pigmentosa pathway   ISOMYO7A (Homo sapiens) RGD 
Myo7aRatretinitis pigmentosa pathway   ISOMYO7A (Homo sapiens) RGD 
PCDH15Humanretinitis pigmentosa pathway   TAS  RGD 
Pcdh15Mouseretinitis pigmentosa pathway   ISOPCDH15 (Homo sapiens) RGD 
Pcdh15Ratretinitis pigmentosa pathway   ISOPCDH15 (Homo sapiens) RGD 
USH1CHumanretinitis pigmentosa pathway   TAS  RGD 
USH1GHumanretinitis pigmentosa pathway   TAS  RGD 
Ush1cMouseretinitis pigmentosa pathway   ISOUSH1C (Homo sapiens) RGD 
Ush1cRatretinitis pigmentosa pathway   ISOUSH1C (Homo sapiens) RGD 
Ush1gRatretinitis pigmentosa pathway   ISOUSH1G (Homo sapiens) RGD 
Ush1gMouseretinitis pigmentosa pathway   ISOUSH1G (Homo sapiens) 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