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PMID:10615133

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Citation

Sohocki, MM, Bowne, SJ, Sullivan, LS, Blackshaw, S, Cepko, CL, Payne, AM, Bhattacharya, SS, Khaliq, S, Qasim Mehdi, S, Birch, DG, Harrison, WR, Elder, FF, Heckenlively, JR and Daiger, SP (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat. Genet. 24:79-83

Abstract

Leber congenital amaurosis (LCA, MIM 204000) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram (ERG). Mutations in GUCY2D (ref. 3), RPE65 (ref. 4) and CRX (ref. 5) are known to cause LCA, but one study identified disease-causing GUCY2D mutations in only 8 of 15 families whose LCA locus maps to 17p13.1 (ref. 3), suggesting another LCA locus might be located on 17p13.1. Confirming this prediction, the LCA in one Pakistani family mapped to 17p13.1, between D17S849 and D17S960-a region that excludes GUCY2D. The LCA in this family has been designated LCA4 (ref. 6). We describe here a new photoreceptor/pineal-expressed gene, AIPL1 (encoding aryl-hydrocarbon interacting protein-like 1), that maps within the LCA4 candidate region and whose protein contains three tetratricopeptide (TPR) motifs, consistent with nuclear transport or chaperone activity. A homozygous nonsense mutation at codon 278 is present in all affected members of the original LCA4 family. AIPL1 mutations may cause approximately 20% of recessive LCA, as disease-causing mutations were identified in 3 of 14 LCA families not tested previously for linkage.

Links

PubMed PMC2581448 Online version:10.1038/71732

Keywords

Amino Acid Sequence; Base Sequence; Carrier Proteins/chemistry; Carrier Proteins/genetics; Chromosomes, Human, Pair 17; DNA, Complementary; Eye Proteins; Female; Genetic Linkage; Homozygote; Humans; In Situ Hybridization, Fluorescence; Male; Molecular Sequence Data; Mutation; Optic Atrophies, Hereditary/genetics; Pedigree; Photoreceptor Cells, Vertebrate/metabolism; Pineal Gland/metabolism; Sequence Homology, Amino Acid

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:AIPL1

located_in

GO:0005634: nucleus

ECO:0000304: author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

HUMAN:AIPL1

enables

GO:0051082: unfolded protein binding

ECO:0000304: author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete

HUMAN:AIPL1

involved_in

GO:0007601: visual perception

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:AIPL1

part_of

GO:0005634: nucleus

ECO:0000304: author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete


See also

References

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