Alternative splicing and retinal degeneration
نویسندگان
چکیده
منابع مشابه
An alternative splicing variant in Clcn7-/- mice prevents osteopetrosis but not neural and retinal degeneration.
The ubiquitously expressed chloride channel 7 (CLCN7) is present within the ruffled border of osteoclasts. Mutations in the CLCN7 gene in humans (homologous to murine Clcn7) are responsible for several types of osteopetrosis in humans, and deficiencies in CLCN7 can present with retinal degeneration and a neuronal storage disease. A previously reported Clcn7(-/-) mouse showed diffuse osteopetros...
متن کاملLight-induced retinal degeneration suppresses developmental progression of flip-to-flop alternative splicing in GluR1.
AMPA receptors are hetero-oligomers composed of subsets of four distinct subunits, termed GluR1, GluR2, GluR3, and GluR4. Using quantitative reverse transcription-PCR analysis, we have found that light-induced degeneration of rat retina dramatically suppresses developmental progression of the flip-to-flop alternative splicing switch of retinal GluR1 mRNA. When animals were raised under standard...
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Alternative splicing can alter genome sequence and as a consequence, many genes change to oncogenes. This event can also affect protein function and diversity. The growing number of study elucidate the pathological influence of impaired alternative splicing events on numerous disease including cancer. Here, we would like to highlight the significant role of alternative splicing in cancer biolog...
متن کاملEvolution and Alternative Splicing
In order to comprehend the influence of evolutionary changes in gene structure on the alternative splicing mechanism, we work on three related subjects: (i) conservation of exonintron sequences, (ii) splice site score changes and (iii) length data changes, across the vertebrate tree. We have analyzed conservation levels of human Alternative cassette exons (ACEs) ...
متن کاملEvolution and Alternative Splicing
In order to comprehend the influence of evolutionary changes in gene structure on the alternative splicing mechanism, we work on three related subjects: (i) conservation of exonintron sequences, (ii) splice site score changes and (iii) length data changes, across the vertebrate tree. We have analyzed conservation levels of human Alternative cassette exons (ACEs) ...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2013
ISSN: 0009-9163
DOI: 10.1111/cge.12181