منابع مشابه
An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM
We have previously reported a natural GTAA deletion within an intronic splicing processing element (ISPE) of the ataxia telangiectasia mutated (ATM) gene that disrupts a non-canonical U1 snRNP interaction and activates the excision of the upstream portion of the intron. The resulting pre-mRNA splicing intermediate is then processed to a cryptic exon, whose aberrant inclusion in the final mRNA i...
متن کاملAtaxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene
Heejeong Jeong, M.D.*, Hee Jae Huh, M.D.*, Jinyoung Youn, M.D., Ji Sun Kim, M.D., Jin Whan Cho, Ph.D., and Chang-Seok Ki, M.D. Department of Neurology, Gyeongsang National University School of Medicine, Jinju; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Neurology, Samsung Medical Center, Sungkyunkwan Un...
متن کاملFunctional studies on the ATM intronic splicing processing element
In disease-associated genes, the understanding of the functional significance of deep intronic nucleotide variants may represent a difficult challenge. We have previously reported a new disease-causing mechanism that involves an intronic splicing processing element (ISPE) in ATM, composed of adjacent consensus 5' and 3' splice sites. A GTAA deletion within ISPE maintains potential adjacent spli...
متن کاملMKLN1 splicing defect in dogs with lethal acrodermatitis
Lethal acrodermatitis (LAD) is a genodermatosis with monogenic autosomal recessive inheritance in Bull Terriers and Miniature Bull Terriers. The LAD phenotype is characterized by poor growth, immune deficiency, and skin lesions, especially at the paws. Utilizing a combination of genome wide association study and haplotype analysis, we mapped the LAD locus to a critical interval of ~1.11 Mb on c...
متن کاملInteraction of hnRNPA1/A2 and DAZAP1 with an Alu-Derived Intronic Splicing Enhancer Regulates ATM Aberrant Splicing
We have previously identified an Alu-derived Intronic Splicing enhancer (ISE) in the Ataxia Teleangectasia Mutated gene (ATM) that facilitates intron pre-mRNA processing and leads to the inclusion of a cryptic exon in the final mRNA transcript. By using an RNA pull-down assay, we show here that hnRNPA1/A2, HuR and DAZAP1 splicing factors and DHX36 RNA helicase bind to the ISE. By functional stu...
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ژورنال
عنوان ژورنال: Genome Biology
سال: 2002
ISSN: 1465-6906
DOI: 10.1186/gb-spotlight-20020314-01