scholarly journals Prp8 positioning of U5 snRNA is linked to 5′ splice site recognition

RNA ◽  
2018 ◽  
Vol 24 (6) ◽  
pp. 769-777 ◽  
Author(s):  
Andrew J. MacRae ◽  
Megan Mayerle ◽  
Eva Hrabeta-Robinson ◽  
Robert J. Chalkley ◽  
Christine Guthrie ◽  
...  
Keyword(s):  
Splice Site ◽  
Site Recognition ◽  
U5 Snrna

scholarly journals A Flexible Region of PRP8 Interacts with U5 snRNA Loop I and is Functionally Linked to 5' Splice Site Recognition

2018 ◽  
Vol 114 (3) ◽  
pp. 253a
Author(s):  
Andrew MacRae ◽  
Megan Mayerle ◽  
Robert Chalkley ◽  
Melissa Jurica
Keyword(s):  
Splice Site ◽  
Flexible Region ◽  
Site Recognition ◽  
U5 Snrna

scholarly journals Post-catalytic spliceosome structure reveals mechanism of 3'-splice site selection

2017 ◽  
Author(s):  
Max E. Wilkinson ◽  
Sebastian M. Fica ◽  
Wojciech P. Galej ◽  
Christine M. Norman ◽  
Andrew J. Newman ◽  
...  
Keyword(s):  
Branch Point ◽  
Splice Site ◽  
Site Selection ◽  
Catalytic Mechanism ◽  
Splice Site Selection ◽  
Terminal Domain ◽  
Exon Ligation ◽  
Site Recognition ◽  
U5 Snrna ◽  
Insight Into

AbstractIntrons are removed from eukaryotic mRNA precursors by the spliceosome in two transesterification reactions – branching and exon ligation. Following branching, the 5'-exon remains paired to U5 snRNA loop 1, but the mechanism of 3'-splice site recognition during exon ligation has remained unclear. Here we present the 3.7Å cryo-EM structure of the yeast P complex spliceosome immediately after exon ligation. The 3'-splice site AG dinucleotide is recognised through non-Watson-Crick pairing with the 5'-splice site and the branch point adenosine. A conserved loop of Prp18 together with the α-finger and the RNaseH domain of Prp8 clamp the docked 3'-splice site and 3'-exon. The step 2 factors Prp18 and Slu7 and the C-terminal domain of Yju2 stabilise a conformation competent for 3'-splice site docking and exon ligation. The structure accounts for the strict conservation of the GU and AG dinucleotides of the introns and provides insight into the catalytic mechanism of exon ligation.

scholarly journals NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Satoshi Tamaoka ◽  
Erina Suzuki ◽  
Atsushi Hattori ◽  
Tsutomu Ogata ◽  
Maki Fukami ◽  
...  
Keyword(s):  
Splice Site ◽  
Genetic Heterogeneity ◽  
Hypogonadotropic Hypogonadism ◽  
Causative Gene ◽  
Synonymous Substitutions ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Site Recognition

AbstractAlthough NDNF was recently reported as a novel causative gene for congenital hypogonadotropic hypogonadism (CHH), this conclusion has yet to be validated. In this study, we sequenced NDNF in 61 Japanese CHH patients. No variants, except for nine synonymous substitutions that appear to have no effect on splice-site recognition, were identified in NDNF coding exons or flanking intronic sequences. These results indicate the rarity of NDNF variants in CHH patients and highlight the genetic heterogeneity of CHH.

Poor Splice-Site Recognition in a Humanized Zebrafish Knockin Model for the Recurrent Deep-Intronic c.7595-2144A>G Mutation inUSH2A

Zebrafish ◽  
2018 ◽  
Vol 15 (6) ◽  
pp. 597-609 ◽  
Author(s):  
Ralph Slijkerman ◽  
Alexander Goloborodko ◽  
Sanne Broekman ◽  
Erik de Vrieze ◽  
Lisette Hetterschijt ◽  
...  
Keyword(s):  
Splice Site ◽  
Site Recognition

scholarly journals Modulation of msl-2 5′ splice site recognition by Sex-lethal

RNA ◽  
2001 ◽  
Vol 7 (9) ◽  
pp. 1185-1191 ◽  
Author(s):  
PATRIK FÖRCH ◽  
LIVIA MERENDINO ◽  
CONCEPCIÓN MARTÍNEZ ◽  
JUAN VALCÁRCEL
Keyword(s):  
Splice Site ◽  
Sex Lethal ◽  
Site Recognition

Interactions across Exons Can Influence Splice Site Recognition in Plant Nuclei

1996 ◽  
Vol 8 (12) ◽  
pp. 2295
Author(s):  
Andrew J. McCullough ◽  
Clair E. Baynton ◽  
Mary A. Schuler
Keyword(s):  
Splice Site ◽  
Site Recognition

scholarly journals HnRNP L-mediated regulation of mammalian alternative splicing by interference with splice site recognition

RNA Biology ◽  
2010 ◽  
Vol 7 (1) ◽  
pp. 56-64 ◽  
Author(s):  
Monika Heiner ◽  
Jingyi Hui ◽  
Silke Schreiner ◽  
Lee-Hsueh Hung ◽  
Albrecht Bindereif
Keyword(s):  
Alternative Splicing ◽  
Splice Site ◽  
Site Recognition
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