Splice site mutation - Open Access .click

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A mutation hotspot at the p14ARF splice site [PDF]

Oncogene, 2005
Germline mutations of CDKN2A that affect the p16INK4a transcript have been identified in numerous melanoma pedigrees worldwide. In the UK, over 50% of pedigrees with three or more cases of melanoma have been found to carry mutations of CDKN2A. Mutations that affect p14ARF exon 1beta exclusively are very rare.
Mark, Harland +11 more
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Effect of 5′ Splice Site Mutations on Splicing of the Preceding Intron [PDF]

Molecular and Cellular Biology, 1990
Three exon constructs containing identical intron and exon sequences were mutated at the 5' splice site beginning intron 2 and assayed for the effect of the mutation on splicing of the upstream intron in vitro. Alteration of two or six bases within the 5' splice site reduced removal of intron 1 at least 20-fold, as determined by quantitation of either ...
M, Talerico, S M, Berget
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Mutational Analysis of 3′ Splice Site Selection duringtrans-Splicing [PDF]

Journal of Biological Chemistry, 2000
trans-Splicing is essential for mRNA maturation in trypanosomatids. A conserved AG dinucleotide serves as the 3' splice acceptor site, and analysis of native processing sites suggests that selection of this site is determined according to a 5'-3' scanning model. A series of stable gene replacement lines were generated that carried point mutations at or
H S, Hummel, R D, Gillespie, J, Swindle
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Systematic Analysis of Splice-Site-Creating Mutations in Cancer [PDF]

Cell Reports, 2018
For the past decade, cancer genomic studies have focused on mutations leading to splice-site disruption, overlooking those having splice-creating potential. Here, we applied a bioinformatic tool, MiSplice, for the large-scale discovery of splice-site-creating mutations (SCMs) across 8,656 TCGA tumors.
Reyka G. Jayasinghe +293 more
openaire +7 more sources

A 5' splice site mutation in fucosidosis. [PDF]

Journal of Medical Genetics, 1993
Fucosidosis is a rare, autosomal recessive, lysosomal storage disease, resulting from a deficiency of the enzyme alpha-fucosidase (EC 3.2.1.51). It is characterised clinically by progressive mental and motor deterioration, growth retardation, coarse facies, and often recurrent infections, but the course of the disease is variable.
M, Williamson +7 more
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A Second Leaky Splice-Site Mutation in the Spastin Gene [PDF]

The American Journal of Human Genetics, 2001
To the Editor: Mutations in the gene encoding spastin, an ATPase of unknown function, cause the most common form of autosomal dominant hereditary spastic paraplegia (SPG4 [MIM 182601]; Hazan et al. 1999), a neurodegenerative disorder characterized by progressive spasticity of the lower limbs.
Svenson, Ingrid K. +3 more
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Splice Site Mutations in the ATP7A Gene

PLoS ONE, 2011
Menkes disease (MD) is caused by mutations in the ATP7A gene. We describe 33 novel splice site mutations detected in patients with MD or the milder phenotypic form, Occipital Horn Syndrome. We review these 33 mutations together with 28 previously published splice site mutations.
Skjørringe, Tina, Tümer, Zeynep, Møller, Lisbeth Birk +2 more
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Activation of cryptic splice sites in three patients with chronic granulomatous disease

Molecular Genetics & Genomic Medicine, 2019
Background Chronic granulomatous disease (CGD) is a primary immune deficiency caused by mutations in the genes encoding the structural components of the phagocyte NADPH oxidase.
Martin de Boer +3 more
doaj +1 more source

Identification of a novel splice‐site mutation in the CYP1A2 gene [PDF]

British Journal of Clinical Pharmacology, 2003
Aims To identify the molecular basis for a low CYP1A2 metabolic status, as determined by a caffeine phenotyping test, in a 71‐year‐old, nonsmoking, Caucasian woman who presented with very high clozapine concentrations despite being administered a standard dose of the drug.Methods The nucleotide sequence of the 7 exons, exon‐intron boundaries and 5 ...
Delphine, Allorge +7 more
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3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons

The Scientific World Journal, 2014
Spinal muscular atrophy (SMA) is a human genetic disease which occurs because of the deletion or mutation of SMN1 gene. SMN1 gene encodes the SMN protein which plays a key role in spliceosome assembly. Although human patients contain SMN2, a duplicate of
Sunghee Cho +9 more
doaj +1 more source

medicine
splice-site mutation
internal medicine

cryptic splice site
minigene assay
splicing