RNA splicing: a split consensus reveals two major 5′ splice site classes

The established consensus sequence for human 5′ splice sites masks the presence of two major splice site classes defined by preferential base-pairing potentials with either U5 snRNA loop 1 or the U6 snRNA ACAGA box. The two 5′ splice site classes are separable in genome sequences, sensitized by spec...

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Main Authors: Matthew T. Parker, Sebastian M. Fica, Gordon G. Simpson
Format: Article
Language:English
Published: The Royal Society 2025-01-01
Series:Open Biology
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Online Access:https://royalsocietypublishing.org/doi/10.1098/rsob.240293
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author Matthew T. Parker
Sebastian M. Fica
Gordon G. Simpson
author_facet Matthew T. Parker
Sebastian M. Fica
Gordon G. Simpson
author_sort Matthew T. Parker
collection DOAJ
description The established consensus sequence for human 5′ splice sites masks the presence of two major splice site classes defined by preferential base-pairing potentials with either U5 snRNA loop 1 or the U6 snRNA ACAGA box. The two 5′ splice site classes are separable in genome sequences, sensitized by specific genotypes and associated with splicing complexity. The two classes reflect the commitment to 5′ splice site usage occurring primarily during 5′ splice site transfer to U6 snRNA. Separating the human 5′ splice site consensus into its two major constituents can help us understand fundamental features of eukaryote genome architecture and splicing mechanisms and inform treatment design for diseases caused by genetic variation affecting splicing.
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series Open Biology
spelling doaj-art-b8bbbe92b84149449392fdb0868b6e5c2025-01-20T10:18:56ZengThe Royal SocietyOpen Biology2046-24412025-01-0115110.1098/rsob.240293RNA splicing: a split consensus reveals two major 5′ splice site classesMatthew T. Parker0Sebastian M. Fica1Gordon G. Simpson2Max Planck Institute for Plant Breeding Research, Cologne, GermanyDepartment of Biochemistry, University of Oxford, Oxford, UKSchool of Life Sciences, University of Dundee, Dundee, UKThe established consensus sequence for human 5′ splice sites masks the presence of two major splice site classes defined by preferential base-pairing potentials with either U5 snRNA loop 1 or the U6 snRNA ACAGA box. The two 5′ splice site classes are separable in genome sequences, sensitized by specific genotypes and associated with splicing complexity. The two classes reflect the commitment to 5′ splice site usage occurring primarily during 5′ splice site transfer to U6 snRNA. Separating the human 5′ splice site consensus into its two major constituents can help us understand fundamental features of eukaryote genome architecture and splicing mechanisms and inform treatment design for diseases caused by genetic variation affecting splicing.https://royalsocietypublishing.org/doi/10.1098/rsob.240293splicingMETTL16SNRNP27Km6AT-loopReNU syndrome
spellingShingle Matthew T. Parker
Sebastian M. Fica
Gordon G. Simpson
RNA splicing: a split consensus reveals two major 5′ splice site classes
Open Biology
splicing
METTL16
SNRNP27K
m6A
T-loop
ReNU syndrome
title RNA splicing: a split consensus reveals two major 5′ splice site classes
title_full RNA splicing: a split consensus reveals two major 5′ splice site classes
title_fullStr RNA splicing: a split consensus reveals two major 5′ splice site classes
title_full_unstemmed RNA splicing: a split consensus reveals two major 5′ splice site classes
title_short RNA splicing: a split consensus reveals two major 5′ splice site classes
title_sort rna splicing a split consensus reveals two major 5 splice site classes
topic splicing
METTL16
SNRNP27K
m6A
T-loop
ReNU syndrome
url https://royalsocietypublishing.org/doi/10.1098/rsob.240293
work_keys_str_mv AT matthewtparker rnasplicingasplitconsensusrevealstwomajor5splicesiteclasses
AT sebastianmfica rnasplicingasplitconsensusrevealstwomajor5splicesiteclasses
AT gordongsimpson rnasplicingasplitconsensusrevealstwomajor5splicesiteclasses