Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Gen 2000;24:79–83.

Sohoki, M.M; Browne, S.; Sullivan, Lori S.; Blackshaw, Seth; Cepko, Constance L.; Payne, Annette; Bhattacharya, SS; Khaliq, Shagufta; Mehdi, S. Qasim; Birch, DG; Harrison, Wilbur R.; Elder, F.F.B.; Heckenlively, J. R.; Daiger, Stephen P.

doi:10.1016/s0002-9394(00)00517-1

Cited by 4 publications

(1 citation statement)

References 7 publications

(11 reference statements)

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“…Mutations in TPR proteins produce several human diseases. In fact, mutations in the TPR containing protein aryl-hydrocarbon-interacting-protein-like 1 (AIPL1) results in Leber congenital amaurosis, one of the most severe inherited retinopathies [34]. Missense mutations in the TPR region of p67 phox, affecting TPR domain folding, have been implicated in chronic granulomatous disease [35].…”

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confidence: 99%

Mutations at the Serine Hydroxymethyltransferase Impact Its Interaction with a Soluble NSF Attachment Protein and a Pathogenesis-Related Protein in Soybean

et al. 2020

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Resistance to soybean cyst nematodes (SCN) in “Peking-type” resistance is bigenic, requiring Rhg4-a and rhg1-a. Rhg4-a encodes a serine hydroxymethyltransferase (GmSHMT08) and rhg1-a encodes a soluble NSF attachment protein (GmSNAP18). Recently, it has been shown that a pathogenesis-related protein, GmPR08-Bet VI, potentiates the interaction between GmSHMT08 and GmSNAP18. Mutational analysis using spontaneously occurring and ethyl methanesulfonate (EMS)-induced mutations was carried out to increase our knowledge of the interacting GmSHMT08/GmSNAP18/GmPR08-Bet VI multi-protein complex. Mutations affecting the GmSHMT08 protein structure (dimerization and tetramerization) and interaction sites with GmSNAP18 and GmPR08-Bet VI proteins were found to impact the multi-protein complex. Interestingly, mutations affecting the PLP/THF substrate binding and catalysis did not affect the multi-protein complex, although they resulted in increased susceptibility to SCN. Most importantly, GmSHMT08 and GmSNAP18 from PI88788 were shown to interact within the cell, being potentiated in the presence of GmPR08-Bet VI. In addition, we have shown the presence of incompatibility between the GmSNAP18 (rhg1-b) of PI88788 and GmSHMT08 (Rhg4-a) from Peking. Components of the reactive oxygen species (ROS) pathway were shown to be induced in the SCN incompatible reaction and were mapped to QTLs for resistance to SCN using different mapping populations.

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Section: Introductionmentioning

confidence: 99%

Mutations at the Serine Hydroxymethyltransferase Impact Its Interaction with a Soluble NSF Attachment Protein and a Pathogenesis-Related Protein in Soybean

et al. 2020

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Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis

et al. 2010

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Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous retinal dystrophy. The causes of LCA have been unraveled partially at the molecular level. At least 14 genes have been reported that, when mutated, result in LCA. To understand the roles of the known genes in LCA, a group of outbred subjects from 60 apparently either recessive families, with one or more affected individuals, or isolated patients were evaluated. One affected individual from each family underwent comprehensive mutational analysis by direct DNA sequencing of all coding regions and splice junctions of 13 LCA genes. Mutations were identified in 70% of individuals. CEP290 made the largest contribution to the identified mutations, providing 43% of those mutant alleles. We identified seven families in which affected individuals with two mutant alleles, sufficient to cause disease, had an additional mutation at a second LCA locus. Our findings suggest that mutational load can be important to penetrance of the LCA phenotype.

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RecurrentAIPL1c.487C>T truncating variant in Leber Congenital Amaurosis: Support of pathogenicity and regional implications

Abdallah

Koko

Faisal

et al. 2018

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Background: Leber Congenital Amaurosis (LCA) is a clinically and genetically heterogeneous inherited retinal dystrophy characterized by early onset visual impairment caused by mutations in not less than 17 genes. AIPL1 mutations cause LCA type 4, comprising approximately 7% of LCA worldwide. The importance of establishing a genetic diagnosis lies in the promise of gene therapy demonstrated in mouse models. Results: we genetically investigated a consanguineous Sudanese family with Leber Congenital Amaurosis. Eight members of the family were affected. Using whole exome sequencing in two siblings and their healthy mother, both inheritance-based and phenotype-based prioritization strategies converged to identify a truncating variant (rs62637009) in AIPL1, consistent with a diagnosis of LCA type 4. AIPL1 c.487C>T is an ultra-rare cause of LCA4 that was seen previously in homozygous state in a single Palestinian family. This recurrent variant seems to have a regional importance with a likely founder effect. Conclusions: This report adds evidence to the pathogenicity of AIPL1 c.487C>T meriting its conclusive annotation as a recurrent pathogenic variant. This variant is particularly relevant to the middle-eastern and northeast African regions.

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Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Gen 2000;24:79–83.

Cited by 4 publications

References 7 publications

Mutations at the Serine Hydroxymethyltransferase Impact Its Interaction with a Soluble NSF Attachment Protein and a Pathogenesis-Related Protein in Soybean

Mutations at the Serine Hydroxymethyltransferase Impact Its Interaction with a Soluble NSF Attachment Protein and a Pathogenesis-Related Protein in Soybean

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis

RecurrentAIPL1c.487C>T truncating variant in Leber Congenital Amaurosis: Support of pathogenicity and regional implications

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