Unknown,Transcriptomics,Genomics,Proteomics

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Transcription profiling of human lymphoblast cell lines from 13 unrelated index patients and siblings


ABSTRACT: Recessive retinitis pigmentosa (RP) is often caused by nonsense mutations that lead to low mRNA levels as a result of nonsense-mediated decay. Some RP genes are expressed at detectable levels in leukocytes as well as in the retina. We designed a microarray-based method to find recessive RP genes based on low lymphoblast mRNA expression levels Experiment Overall Design: We established lymphoblast cell lines from 13 unrelated index patients with recessive RP as well all of their affected siblings (1 sibship with 4 affected members, 5 with 2 affected members, and 7 isolates) and 4 controls. RNA was isolated and hybridized on Affymetrix genechip Human Genome U133Plus2.0. After normalization, expression levels of the individual families were compared to the other samples; significance was tested using the Student t-test. The most significant suitable candidate genes were sequenced to screen for disease causing mutations and/or analyzed for segregation in the family.

ORGANISM(S): Homo sapiens

SUBMITTER: Dyonne Hartong 

PROVIDER: E-GEOD-12086 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle.

Hartong Dyonne T DT   Dange Mayura M   McGee Terri L TL   Berson Eliot L EL   Dryja Thaddeus P TP   Colman Roberta F RF  

Nature genetics 20080921 10


Here we describe two families with retinitis pigmentosa, a hereditary neurodegeneration of rod and cone photoreceptors in the retina. Affected family members were homozygous for loss-of-function mutations in IDH3B, encoding the beta-subunit of NAD-specific isocitrate dehydrogenase (NAD-IDH, or IDH3), which is believed to catalyze the oxidation of isocitrate to alpha-ketoglutarate in the citric acid cycle. Cells from affected individuals had a substantial reduction of NAD-IDH activity, with about  ...[more]

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