Results 1 to 10 of about 12,984 (193)

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

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   +9 more sources

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

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   +6 more sources

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

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   +4 more sources

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

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   +4 more sources

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

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   +5 more sources

Rare occurrence of cryptic 5’ splice sites by downstream 3’ splice site/exon boundary mutations in a heavy-ion-induced egy1-4 allele of Arabidopsis thaliana

Frontiers in Plant Science
Pre-mRNA splicing is a fundamental process in eukaryotic gene expression, and the mechanism of intron definition, involving the recognition of the canonical GU (5’-splice site) and AG (3’-splice site) dinucleotides by splicing factors, has been ...
Alvin Sanjaya, Alvin Sanjaya, Ryo Nishijima, Yuki Fujii, Makoto Asano, Kotaro Ishii, Yusuke Kazama, Yusuke Kazama, Tomoko Abe, Makoto T. Fujiwara, Makoto T. Fujiwara   +10 more
doaj   +3 more sources

An anciently diverged family of RNA binding proteins maintain correct splicing of a class of ultra-long exons through cryptic splice site repression [PDF]

eLife
Previously, we showed that the germ cell-specific nuclear protein RBMXL2 represses cryptic splicing patterns during meiosis and is required for male fertility (Ehrmann et al., 2019).
Chileleko Siachisumo, Sara Luzzi, Saad Aldalaqan, Gerald Hysenaj, Caroline Dalgliesh, Kathleen Cheung, Matthew R Gazzara, Ivaylo D Yonchev, Katherine James, Mahsa Kheirollahi Chadegani, Ingrid E Ehrmann, Graham R Smith, Simon J Cockell, Jennifer Munkley, Stuart A Wilson, Yoseph Barash, David J Elliott   +16 more
doaj   +2 more sources

An ancient germ cell-specific RNA-binding protein protects the germline from cryptic splice site poisoning [PDF]

eLife, 2019
Male germ cells of all placental mammals express an ancient nuclear RNA binding protein of unknown function called RBMXL2. Here we find that deletion of the retrogene encoding RBMXL2 blocks spermatogenesis.
Ingrid Ehrmann, James H Crichton, Matthew R Gazzara, Katherine James, Yilei Liu, Sushma Nagaraja Grellscheid, Tomaž Curk, Dirk de Rooij, Jannetta S Steyn, Simon Cockell, Ian R Adams, Yoseph Barash, David J Elliott   +12 more
doaj   +2 more sources

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms [PDF]

Molecular Genetics & Genomic Medicine, 2019
Background Rare variants (RV) in immunoglobulin mu‐binding protein 2 (IGHMBP2) [OMIM 600502] can cause an autosomal recessive type of Charcot‐Marie‐Tooth (CMT) disease [OMIM 616155], an inherited peripheral neuropathy.
Thomas A. Cassini, Laura Duncan, Lynette C. Rives, John H. Newman, John A. Phillips, Mary E. Koziura, Jennifer Brault, Rizwan Hamid, Joy Cogan, Undiagnosed Diseases Network   +9 more
doaj   +2 more sources

DRBD3 regulates long non-coding RNA abundance and cryptic splice site selection in trypanosomes [PDF]

Cellular and Molecular Life Sciences
Trypanosomes are unicellular eukaryotes that rely heavily on post-transcriptional mechanisms to control gene expression. DRBD3 is an RNA-binding protein known to play important roles in mRNA processing, stability, transport and translation.
Gloria Ceballos-Pérez, Claudia Gómez-Liñán, Francisco J. Sánchez-Luque, José M. Pérez-Victoria, Antonio M. Estévez   +4 more
doaj   +2 more sources