Results 1 to 10 of about 209 (64)

A genetic screen in Arabidopsis reveals the identical roles for RBP45d and PRP39a in 5’ cryptic splice site selection

Frontiers in Plant Science, 2022
Cryptic splice sites in eukaryotic genome are generally dormant unless activated by mutation of authentic splice sites or related splicing factors. How cryptic splice sites are used remains unclear in plants.
Weihua Huang, Liqun Zhang, Yajuan Zhu, Jingli Chen, Yawen Zhu, Fengru Lin, Xiaomei Chen, Jirong Huang   +7 more
doaj   +3 more sources

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site

Frontiers in Endocrinology, 2023
The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating heterozygous germline mutations in the GATA3 gene.
Catarina I. Gonçalves, Josianne N. Carriço, Omneya M. Omar, Ebtesam Abdalla, Manuel C. Lemos   +4 more
doaj   +3 more sources

Activation of Cryptic 3′ Splice-Sites by SRSF2 Contributes to Cassette Exon Skipping

Cells, 2019
Here we show that the serine/arginine rich splicing factor 2 (SRSF2) promotes cryptic 3′ splice-site (3′AG′) usage during cassette exon exclusion in survival of motor neuron (SMN2) minigenes.
Heegyum Moon, Ha Na Jang, Yongchao Liu, Namjeong Choi, Jagyeong Oh, Jiyeon Ha, Xuexiu Zheng, Haihong Shen   +7 more
doaj   +3 more sources

Precursor RNA structural patterns at SF3B1 mutation sensitive cryptic 3’ splice sites

RNA Biology
SF3B1 is a core component of the spliceosome involved in branch point recognition and 3’ splice site selection. The SF3B1 K700E mutation (lysine to glutamic acid) is common in myelodysplastic syndrome and other blood disorders.
Austin Herbert, Abigail Hatfield, Alexandra Randazza, Valeria Miyamoto, Katie Palmer, Lela Lackey   +5 more
doaj   +3 more sources

Mutations in the Caenorhabditis elegans U2AF large subunit UAF-1 alter the choice of a 3' splice site in vivo. [PDF]

PLoS Genetics, 2009
The removal of introns from eukaryotic RNA transcripts requires the activities of five multi-component ribonucleoprotein complexes and numerous associated proteins.
Long Ma, H Robert Horvitz
doaj   +1 more source

A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

Bone Reports, 2021
Osteogenesis imperfecta (OI) is an inherited genetic disorder characterized by frequent bone fractures and reduced bone mass. Most cases of OI are caused by dominantly inherited heterozygous mutations in one of the two genes encoding type I collagen ...
Ahmed El-Gazzar, Johannes A. Mayr, Barbara Voraberger, Karin Brugger, Stéphane Blouin, Katharina Tischlinger, Hans-Christoph Duba, Holger Prokisch, Nadja Fratzl-Zelman, Wolfgang Högler   +9 more
doaj   +1 more source

Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User’s Point of View

International Journal of Genomics, 2022
Assessing the impact of variants of unknown significance on splicing has become a critical issue and a bottleneck, especially with the widespread implementation of whole-genome or exome sequencing.
Woori Jang, Joonhong Park, Hyojin Chae, Myungshin Kim   +3 more
doaj   +1 more source

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man. [PDF]

PLoS ONE, 2015
The spf/ash mouse model of ornithine transcarbamylase (OTC) deficiency, a severe urea cycle disorder, is caused by a mutation (c.386G>A; p.R129H) in the last nucleotide of exon 4 of the Otc gene, affecting the 5' splice site and resulting in partial use ...
Ana Rivera-Barahona, Rocío Sánchez-Alcudia, Hiu Man Viecelli, Veronique Rüfenacht, Belén Pérez, Magdalena Ugarte, Johannes Häberle, Beat Thöny, Lourdes Ruiz Desviat   +8 more
doaj   +1 more source

A genetic screen in C. elegans reveals roles for KIN17 and PRCC in maintaining 5' splice site identity.

PLoS Genetics, 2022
Pre-mRNA splicing is an essential step of eukaryotic gene expression carried out by a series of dynamic macromolecular protein/RNA complexes, known collectively and individually as the spliceosome.
Jessie M N G L Suzuki, Kenneth Osterhoudt, Catiana H Cartwright-Acar, Destiny R Gomez, Sol Katzman, Alan M Zahler   +5 more
doaj   +1 more source

Induction of cryptic pre-mRNA splice-switching by antisense oligonucleotides

Scientific Reports, 2021
Antisense oligomers (AOs) are increasingly being used to modulate RNA splicing in live cells, both for research and for the development of therapeutics.
Kristin A. Ham, Niall P. Keegan, Craig S. McIntosh, May T. Aung-Htut, Khine Zaw, Kane Greer, Sue Fletcher, Steve D. Wilton   +7 more
doaj   +1 more source