Results 171 to 180 of about 12,984 (193)

Cryptic splice site in the complementary DNA of glucocerebrosidase causes inefficient expression

Analytical Biochemistry, 2008
The low levels of human lysosomal glucocerebrosidase activity expressed in transiently transfected Chinese hamster ovary (CHO) cells were investigated. Reverse transcription PCR (RT-PCR) demonstrated that a significant portion of the transcribed RNA was misspliced owing to the presence of a cryptic splice site in the complementary DNA (cDNA ...
Scott W, Bukovac, Richard D, Bagshaw, Brigitte A, Rigat, John W, Callahan, Joe T R, Clarke, Don J, Mahuran   +5 more
openaire   +2 more sources

Implications of a novel cryptic splice site in the BRCA1 gene

American Journal of Medical Genetics, 1998
This study was designed to determine the significance of a single intronic base change (IVS5-12 G-->A) found in a family with a history of breast cancer. This change is predicted to form a cryptic splice site resulting in the addition of 11 nucleotides to the BRCA1 transcript.
J D, Hoffman, S E, Hallam, V L, Venne, E, Lyon, K, Ward   +4 more
exaly   +3 more sources

Mutation in the ap2-6 allele causes recognition of a cryptic splice site

Journal of Experimental Botany, 2003
Mutations in the homeotic gene APETALA2 of Arabidopsis thaliana cause severe developmental alterations, most prominently homeotic floral organ replacements from petals to carpels and petals to stamens in the outer two floral whorls. To date, ten different alleles have been identified conferring phenotypes of various degrees.
Michael P, Wakem, Susanne E, Kohalmi
openaire   +2 more sources

Retinitis Pigmentosa Mutations ofSNRNP200Enhance Cryptic Splice-Site Recognition

Human Mutation, 2013
Mutations in SNRP200 gene cause autosomal-dominant retinal disorder retinitis pigmentosa (RP). The protein product of SNRNP200 is BRR2, a DExD/H box RNA helicase crucial for pre-mRNA splicing. In this study, we prepared p.S1087L and p.R1090L mutations of human BRR2 using bacterial artificial chromosome recombineering and stably expressed them in human ...
Cvačková, Z. (Zuzana), Matějů, D. (Daniel), Staněk, D. (David)   +2 more
openaire   +3 more sources

Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects

Human Mutation, 1999
Ten different mutations have been identified in patients with Becker (n = 1) or Duchenne (n = 9) muscular dystrophy using reverse transcription of total RNA, polymerase chain reaction amplification of the whole coding region of the gene and protein truncation test (PTT) analysis.
S, Tuffery-Giraud, S, Chambert, J, Demaille, M, Claustres   +3 more
openaire   +2 more sources

Hypophosphatemic rickets caused by a novel splice donor site mutation and activation of two cryptic splice donor sites in the PHEX gene

Journal of Pediatric Endocrinology and Metabolism, 2015
AbstractX-linked hypophosphatemic rickets (XLH) is the most common inherited form of rickets.
Minjing, Zou, Derya, Buluş, Roua A, Al-Rijjal, Nesibe, Andıran, Huda, BinEssa, Walaa E, Kattan, Brian, Meyer, Yufei, Shi   +7 more
openaire   +2 more sources

Usage of Cryptic Splice Sites in Citrullinemia Fibroblasts Suggests Role of Polyadenylation in Splice-Site Selection during Terminal Exon Definition

DNA and Cell Biology, 1998
Citrullinemia is a human genetic disease caused by a deficient argininosuccinate synthetase. In fibroblasts established from a citrullinemia patient with a mutation at the 3' splice site of the terminal intron of the gene, three cryptic 3' splice sites; i.e., SA1275, SA1636, and SA1663, residing on the terminal exon were activated.
T F, Tsai, M J, Wu, T S, Su
openaire   +2 more sources

Mutation of 3' splice sites in two different class I genes results in different usage of cryptic splice sites.

The Journal of Immunology, 1989
Abstract To determine the pattern of alternative splicing at the 5' end of class I genes, the 3' splice sites bordering exon 2 of the H-2Dd and H-2Kd genes were mutated from AG to GG (H-2Dd) or CG (H-2Kd). The mutant genes were transfected into L cells, and RNA from clones expressing these Ag was used for analysis by RNase and S1 ...
M L, Hedley, J, Forman, P W, Tucker
openaire   +2 more sources

An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites

Nature Structural & Molecular Biology, 2004
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder associated with gastrointestinal polyposis and an increased cancer risk. PJS is caused by germline mutations in the tumor suppressor gene LKB1. One such mutation, IVS2+1A>G, alters the second intron 5' splice site, which has sequence features of a U12-type AT-AC intron.
Hastings ML, RESTA, Nicoletta, Traum D, STELLA, Alessandro, Guanti G, Krainer AR   +5 more
openaire   +3 more sources

A Novel Algorithm for Identification of Activated Cryptic 5′ Splice Sites

Journal of Biomolecular Structure and Dynamics, 2012
Kun-Nan, Tsai, Guang-Wu, Chen, Calvin Yu-Chian, Chen   +2 more
openaire   +2 more sources