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 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.

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

scholarly journals Intron Retention in the Alternatively Spliced Region of RON Results from Weak 3’ Splice Site Recognition

PLoS ONE ◽  
2013 ◽  
Vol 8 (10) ◽  
pp. e77208 ◽  
Author(s):  
Lindsay D. Smith ◽  
Christian M. Lucas ◽  
Ian C. Eperon
Keyword(s):  
Splice Site ◽  
Intron Retention ◽  
Alternatively Spliced ◽  
Site Recognition

scholarly journals An Intronic Splicing Enhancer Binds U1 snRNPs To Enhance Splicing and Select 5′ Splice Sites

2000 ◽  
Vol 20 (24) ◽  
pp. 9225-9235 ◽  
Author(s):  
Andrew J. McCullough ◽  
Susan M. Berget
Keyword(s):  
Splice Site ◽  
Maximal Activity ◽  
Splice Sites ◽  
Base Pairing ◽  
Rich Region ◽  
U1 Snrnp ◽  
Splicing Efficiency ◽  
Site Recognition ◽  
Splicing Enhancer

ABSTRACT Intronic G triplets are frequently located adjacent to 5′ splice sites in vertebrate pre-mRNAs and have been correlated with splicing efficiency and specificity via a mechanism that activates upstream 5′ splice sites in exons containing duplicated sites (26). Using an intron dependent upon G triplets for maximal activity and 5′ splice site specificity, we determined that these elements bind U1 snRNPs via base pairing with U1 RNA. This interaction is novel in that it uses nucleotides 8 to 10 of U1 RNA and is independent of nucleotides 1 to 7. In vivo functionality of base pairing was documented by restoring activity and specificity to mutated G triplets through compensating U1 RNA mutations. We suggest that the G-rich region near vertebrate 5′ splice sites promotes accurate splice site recognition by recruiting the U1 snRNP.

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