Differential effects of MATR3 variants on its cryptic splicing repression function Article Swipe

PDF

Mashiat Khan , Xiao Xiao Chen , Michelle Dias , Jhune Rizsan Santos , Sukhleen Kour , Justin You , Rebekah van Bruggen , Mohieldin Youssef , Ying‐Wooi Wan , Zhandong Liu , Jill A. Rosenfeld , Qiumin Tan , Udai Bhan Pandey , Hari Krishna Yalamanchili , Jeehye Park ·

YOU? · · 2023 · Open Access · · DOI: https://doi.org/10.1101/2023.12.07.570685

MATR3 is an RNA-binding protein implicated in neurodegenerative and neurodevelopmental diseases. However, little is known regarding the role of MATR3 in cryptic splicing within the context of functional genes and how disease-associated variants impact this function. We show that loss of MATR3 leads to cryptic exon inclusion in many transcripts. We reveal that ALS-linked S85C pathogenic variant reduces MATR3 solubility but does not impair RNA binding. In parallel, we report a novel neurodevelopmental disease-associated M548T variant, located in the RRM2 domain, which reduces protein solubility and impairs RNA binding and cryptic splicing repression functions of MATR3. Altogether, our research identifies cryptic events within functional genes and demonstrates how disease-associated variants impact MATR3 cryptic splicing repression function.

Related Topics

Rna Splicing

Biology

Rna

Computational Biology

Gene Expression

Paleontology

Concepts

RNA splicing Biology Psychological repression RNA-binding protein Genetics Alternative splicing Exon Gene RNA Context (archaeology) Computational biology Gene expression Paleontology

Metadata

Type: preprint
Language: en
Landing Page: https://doi.org/10.1101/2023.12.07.570685
PDF: https://www.biorxiv.org/content/biorxiv/early/2023/12/08/2023.12.07.570685.full.pdf
OA Status: green
References: 76
Related Works: 10
OpenAlex ID: https://openalex.org/W4389497544

All OpenAlex metadata

Raw OpenAlex JSON

OpenAlex ID: https://openalex.org/W4389497544

Canonical identifier for this work in OpenAlex
DOI: https://doi.org/10.1101/2023.12.07.570685

Digital Object Identifier
Title: Differential effects of MATR3 variants on its cryptic splicing repression function

Work title
Type: preprint

OpenAlex work type
Language: en

Primary language
Publication year: 2023

Year of publication
Publication date: 2023-12-08

Full publication date if available
Authors: Mashiat Khan, Xiao Xiao Chen, Michelle Dias, Jhune Rizsan Santos, Sukhleen Kour, Justin You, Rebekah van Bruggen, Mohieldin Youssef, Ying‐Wooi Wan, Zhandong Liu, Jill A. Rosenfeld, Qiumin Tan, Udai Bhan Pandey, Hari Krishna Yalamanchili, Jeehye Park

List of authors in order
Landing page: https://doi.org/10.1101/2023.12.07.570685

Publisher landing page
PDF URL: https://www.biorxiv.org/content/biorxiv/early/2023/12/08/2023.12.07.570685.full.pdf

Direct link to full text PDF
Open access: Yes

Whether a free full text is available
OA status: green

Open access status per OpenAlex
OA URL: https://www.biorxiv.org/content/biorxiv/early/2023/12/08/2023.12.07.570685.full.pdf

Direct OA link when available
Concepts: RNA splicing, Biology, Psychological repression, RNA-binding protein, Genetics, Alternative splicing, Exon, Gene, RNA, Context (archaeology), Computational biology, Gene expression, Paleontology

Top concepts (fields/topics) attached by OpenAlex
Cited by: 0

Total citation count in OpenAlex
References (count): 76

Number of works referenced by this work
Related works (count): 10

Other works algorithmically related by OpenAlex

Full payload

id	https://openalex.org/W4389497544
doi	https://doi.org/10.1101/2023.12.07.570685
ids.doi	https://doi.org/10.1101/2023.12.07.570685
ids.openalex	https://openalex.org/W4389497544
fwci	0.0
type	preprint
title	Differential effects of MATR3 variants on its cryptic splicing repression function
biblio.issue
biblio.volume
biblio.last_page
biblio.first_page
topics[0].id	https://openalex.org/T10604
topics[0].field.id	https://openalex.org/fields/13
topics[0].field.display_name	Biochemistry, Genetics and Molecular Biology
topics[0].score	0.9998999834060669
topics[0].domain.id	https://openalex.org/domains/1
topics[0].domain.display_name	Life Sciences
topics[0].subfield.id	https://openalex.org/subfields/1312
topics[0].subfield.display_name	Molecular Biology
topics[0].display_name	RNA Research and Splicing
topics[1].id	https://openalex.org/T10521
topics[1].field.id	https://openalex.org/fields/13
topics[1].field.display_name	Biochemistry, Genetics and Molecular Biology
topics[1].score	0.9983000159263611
topics[1].domain.id	https://openalex.org/domains/1
topics[1].domain.display_name	Life Sciences
topics[1].subfield.id	https://openalex.org/subfields/1312
topics[1].subfield.display_name	Molecular Biology
topics[1].display_name	RNA and protein synthesis mechanisms
topics[2].id	https://openalex.org/T11482
topics[2].field.id	https://openalex.org/fields/13
topics[2].field.display_name	Biochemistry, Genetics and Molecular Biology
topics[2].score	0.9923999905586243
topics[2].domain.id	https://openalex.org/domains/1
topics[2].domain.display_name	Life Sciences
topics[2].subfield.id	https://openalex.org/subfields/1312
topics[2].subfield.display_name	Molecular Biology
topics[2].display_name	RNA modifications and cancer
is_xpac	False
apc_list
apc_paid
concepts[0].id	https://openalex.org/C54458228
concepts[0].level	4
concepts[0].score	0.8237369656562805
concepts[0].wikidata	https://www.wikidata.org/wiki/Q237218
concepts[0].display_name	RNA splicing
concepts[1].id	https://openalex.org/C86803240
concepts[1].level	0
concepts[1].score	0.6904928684234619
concepts[1].wikidata	https://www.wikidata.org/wiki/Q420
concepts[1].display_name	Biology
concepts[2].id	https://openalex.org/C186310378
concepts[2].level	4
concepts[2].score	0.6516510248184204
concepts[2].wikidata	https://www.wikidata.org/wiki/Q941796
concepts[2].display_name	Psychological repression
concepts[3].id	https://openalex.org/C41282012
concepts[3].level	4
concepts[3].score	0.6142118573188782
concepts[3].wikidata	https://www.wikidata.org/wiki/Q3928341
concepts[3].display_name	RNA-binding protein
concepts[4].id	https://openalex.org/C54355233
concepts[4].level	1
concepts[4].score	0.5525496006011963
concepts[4].wikidata	https://www.wikidata.org/wiki/Q7162
concepts[4].display_name	Genetics
concepts[5].id	https://openalex.org/C194583182
concepts[5].level	4
concepts[5].score	0.5480409860610962
concepts[5].wikidata	https://www.wikidata.org/wiki/Q21114084
concepts[5].display_name	Alternative splicing
concepts[6].id	https://openalex.org/C36823959
concepts[6].level	3
concepts[6].score	0.5467133522033691
concepts[6].wikidata	https://www.wikidata.org/wiki/Q373027
concepts[6].display_name	Exon
concepts[7].id	https://openalex.org/C104317684
concepts[7].level	2
concepts[7].score	0.5212115049362183
concepts[7].wikidata	https://www.wikidata.org/wiki/Q7187
concepts[7].display_name	Gene
concepts[8].id	https://openalex.org/C67705224
concepts[8].level	3
concepts[8].score	0.4590131342411041
concepts[8].wikidata	https://www.wikidata.org/wiki/Q11053
concepts[8].display_name	RNA
concepts[9].id	https://openalex.org/C2779343474
concepts[9].level	2
concepts[9].score	0.4290562570095062
concepts[9].wikidata	https://www.wikidata.org/wiki/Q3109175
concepts[9].display_name	Context (archaeology)
concepts[10].id	https://openalex.org/C70721500
concepts[10].level	1
concepts[10].score	0.34402623772621155
concepts[10].wikidata	https://www.wikidata.org/wiki/Q177005
concepts[10].display_name	Computational biology
concepts[11].id	https://openalex.org/C150194340
concepts[11].level	3
concepts[11].score	0.21392270922660828
concepts[11].wikidata	https://www.wikidata.org/wiki/Q26972
concepts[11].display_name	Gene expression
concepts[12].id	https://openalex.org/C151730666
concepts[12].level	1
concepts[12].score	0.0
concepts[12].wikidata	https://www.wikidata.org/wiki/Q7205
concepts[12].display_name	Paleontology
keywords[0].id	https://openalex.org/keywords/rna-splicing
keywords[0].score	0.8237369656562805
keywords[0].display_name	RNA splicing
keywords[1].id	https://openalex.org/keywords/biology
keywords[1].score	0.6904928684234619
keywords[1].display_name	Biology
keywords[2].id	https://openalex.org/keywords/psychological-repression
keywords[2].score	0.6516510248184204
keywords[2].display_name	Psychological repression
keywords[3].id	https://openalex.org/keywords/rna-binding-protein
keywords[3].score	0.6142118573188782
keywords[3].display_name	RNA-binding protein
keywords[4].id	https://openalex.org/keywords/genetics
keywords[4].score	0.5525496006011963
keywords[4].display_name	Genetics
keywords[5].id	https://openalex.org/keywords/alternative-splicing
keywords[5].score	0.5480409860610962
keywords[5].display_name	Alternative splicing
keywords[6].id	https://openalex.org/keywords/exon
keywords[6].score	0.5467133522033691
keywords[6].display_name	Exon
keywords[7].id	https://openalex.org/keywords/gene
keywords[7].score	0.5212115049362183
keywords[7].display_name	Gene
keywords[8].id	https://openalex.org/keywords/rna
keywords[8].score	0.4590131342411041
keywords[8].display_name	RNA
keywords[9].id	https://openalex.org/keywords/context
keywords[9].score	0.4290562570095062
keywords[9].display_name	Context (archaeology)
keywords[10].id	https://openalex.org/keywords/computational-biology
keywords[10].score	0.34402623772621155
keywords[10].display_name	Computational biology
keywords[11].id	https://openalex.org/keywords/gene-expression
keywords[11].score	0.21392270922660828
keywords[11].display_name	Gene expression
language	en
locations[0].id	doi:10.1101/2023.12.07.570685
locations[0].is_oa	True
locations[0].source.id	https://openalex.org/S4306402567
locations[0].source.issn
locations[0].source.type	repository
locations[0].source.is_oa	False
locations[0].source.issn_l
locations[0].source.is_core	False
locations[0].source.is_in_doaj	False
locations[0].source.display_name	bioRxiv (Cold Spring Harbor Laboratory)
locations[0].source.host_organization	https://openalex.org/I2750212522
locations[0].source.host_organization_name	Cold Spring Harbor Laboratory
locations[0].source.host_organization_lineage	https://openalex.org/I2750212522
locations[0].license	cc-by-nc-nd
locations[0].pdf_url	https://www.biorxiv.org/content/biorxiv/early/2023/12/08/2023.12.07.570685.full.pdf
locations[0].version	acceptedVersion
locations[0].raw_type	posted-content
locations[0].license_id	https://openalex.org/licenses/cc-by-nc-nd
locations[0].is_accepted	True
locations[0].is_published	False
locations[0].raw_source_name
locations[0].landing_page_url	https://doi.org/10.1101/2023.12.07.570685
indexed_in	crossref
authorships[0].author.id	https://openalex.org/A5104210996
authorships[0].author.orcid
authorships[0].author.display_name	Mashiat Khan
authorships[0].countries	CA
authorships[0].affiliations[0].institution_ids	https://openalex.org/I185261750
authorships[0].affiliations[0].raw_affiliation_string	Department of Molecular Genetics, University of Toronto, Toronto, M5S A, Canada
authorships[0].affiliations[1].institution_ids	https://openalex.org/I2801317318
authorships[0].affiliations[1].raw_affiliation_string	Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada
authorships[0].institutions[0].id	https://openalex.org/I2801317318
authorships[0].institutions[0].ror	https://ror.org/057q4rt57
authorships[0].institutions[0].type	healthcare
authorships[0].institutions[0].lineage	https://openalex.org/I2801317318
authorships[0].institutions[0].country_code	CA
authorships[0].institutions[0].display_name	Hospital for Sick Children
authorships[0].institutions[1].id	https://openalex.org/I185261750
authorships[0].institutions[1].ror	https://ror.org/03dbr7087
authorships[0].institutions[1].type	education
authorships[0].institutions[1].lineage	https://openalex.org/I185261750
authorships[0].institutions[1].country_code	CA
authorships[0].institutions[1].display_name	University of Toronto
authorships[0].author_position	first
authorships[0].raw_author_name	Mashiat Khan
authorships[0].is_corresponding	False
authorships[0].raw_affiliation_strings	Department of Molecular Genetics, University of Toronto, Toronto, M5S A, Canada, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada
authorships[1].author.id	https://openalex.org/A5027162515
authorships[1].author.orcid	https://orcid.org/0000-0003-1529-0568
authorships[1].author.display_name	Xiao Xiao Chen
authorships[1].countries	CA
authorships[1].affiliations[0].institution_ids	https://openalex.org/I185261750
authorships[1].affiliations[0].raw_affiliation_string	Department of Molecular Genetics, University of Toronto, Toronto, M5S A, Canada
authorships[1].affiliations[1].institution_ids	https://openalex.org/I2801317318
authorships[1].affiliations[1].raw_affiliation_string	Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada
authorships[1].institutions[0].id	https://openalex.org/I2801317318
authorships[1].institutions[0].ror	https://ror.org/057q4rt57
authorships[1].institutions[0].type	healthcare
authorships[1].institutions[0].lineage	https://openalex.org/I2801317318
authorships[1].institutions[0].country_code	CA
authorships[1].institutions[0].display_name	Hospital for Sick Children
authorships[1].institutions[1].id	https://openalex.org/I185261750
authorships[1].institutions[1].ror	https://ror.org/03dbr7087
authorships[1].institutions[1].type	education
authorships[1].institutions[1].lineage	https://openalex.org/I185261750
authorships[1].institutions[1].country_code	CA
authorships[1].institutions[1].display_name	University of Toronto
authorships[1].author_position	middle
authorships[1].raw_author_name	Xiao Xiao Lily Chen
authorships[1].is_corresponding	False
authorships[1].raw_affiliation_strings	Department of Molecular Genetics, University of Toronto, Toronto, M5S A, Canada, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada
authorships[2].author.id	https://openalex.org/A5113131443
authorships[2].author.orcid
authorships[2].author.display_name	Michelle Dias
authorships[2].countries	US
authorships[2].affiliations[0].institution_ids	https://openalex.org/I4210117334, https://openalex.org/I4210147586
authorships[2].affiliations[0].raw_affiliation_string	Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, 77030, USA
authorships[2].affiliations[1].institution_ids	https://openalex.org/I181547552
authorships[2].affiliations[1].raw_affiliation_string	Department of Pediatrics, Baylor College of Medicine, Houston, 7700, USA
authorships[2].institutions[0].id	https://openalex.org/I181547552
authorships[2].institutions[0].ror	https://ror.org/02pttbw34
authorships[2].institutions[0].type	education
authorships[2].institutions[0].lineage	https://openalex.org/I181547552, https://openalex.org/I2801539370
authorships[2].institutions[0].country_code	US
authorships[2].institutions[0].display_name	Baylor College of Medicine
authorships[2].institutions[1].id	https://openalex.org/I4210117334
authorships[2].institutions[1].ror	https://ror.org/02ea83075
authorships[2].institutions[1].type	other
authorships[2].institutions[1].lineage	https://openalex.org/I4210117334
authorships[2].institutions[1].country_code	US
authorships[2].institutions[1].display_name	Neurological Research Institute
authorships[2].institutions[2].id	https://openalex.org/I4210147586
authorships[2].institutions[2].ror	https://ror.org/05cz92x43
authorships[2].institutions[2].type	healthcare
authorships[2].institutions[2].lineage	https://openalex.org/I4210147586
authorships[2].institutions[2].country_code	US
authorships[2].institutions[2].display_name	Texas Children's Hospital
authorships[2].author_position	middle
authorships[2].raw_author_name	Michelle Dias
authorships[2].is_corresponding	False
authorships[2].raw_affiliation_strings	Department of Pediatrics, Baylor College of Medicine, Houston, 7700, USA, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, 77030, USA
authorships[3].author.id	https://openalex.org/A5101951635
authorships[3].author.orcid	https://orcid.org/0000-0001-6509-3648
authorships[3].author.display_name	Jhune Rizsan Santos
authorships[3].countries	CA
authorships[3].affiliations[0].institution_ids	https://openalex.org/I2801317318
authorships[3].affiliations[0].raw_affiliation_string	Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada
authorships[3].affiliations[1].institution_ids	https://openalex.org/I185261750
authorships[3].affiliations[1].raw_affiliation_string	Department of Molecular Genetics, University of Toronto, Toronto, M5S A, Canada
authorships[3].institutions[0].id	https://openalex.org/I2801317318
authorships[3].institutions[0].ror	https://ror.org/057q4rt57
authorships[3].institutions[0].type	healthcare
authorships[3].institutions[0].lineage	https://openalex.org/I2801317318
authorships[3].institutions[0].country_code	CA
authorships[3].institutions[0].display_name	Hospital for Sick Children
authorships[3].institutions[1].id	https://openalex.org/I185261750
authorships[3].institutions[1].ror	https://ror.org/03dbr7087
authorships[3].institutions[1].type	education
authorships[3].institutions[1].lineage	https://openalex.org/I185261750
authorships[3].institutions[1].country_code	CA
authorships[3].institutions[1].display_name	University of Toronto
authorships[3].author_position	middle
authorships[3].raw_author_name	Jhune Rizsan Santos
authorships[3].is_corresponding	False
authorships[3].raw_affiliation_strings	Department of Molecular Genetics, University of Toronto, Toronto, M5S A, Canada, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada
authorships[4].author.id	https://openalex.org/A5082226825
authorships[4].author.orcid	https://orcid.org/0000-0002-8068-5278
authorships[4].author.display_name	Sukhleen Kour
authorships[4].countries	US
authorships[4].affiliations[0].institution_ids	https://openalex.org/I4210130600, https://openalex.org/I4210134769
authorships[4].affiliations[0].raw_affiliation_string	Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, 1224, USA
authorships[4].institutions[0].id	https://openalex.org/I4210130600
authorships[4].institutions[0].ror	https://ror.org/03763ep67
authorships[4].institutions[0].type	healthcare
authorships[4].institutions[0].lineage	https://openalex.org/I4210098814, https://openalex.org/I4210130600, https://openalex.org/I4210134769
authorships[4].institutions[0].country_code	US
authorships[4].institutions[0].display_name	Children's Hospital of Pittsburgh
authorships[4].institutions[1].id	https://openalex.org/I4210134769
authorships[4].institutions[1].ror	https://ror.org/04ehecz88
authorships[4].institutions[1].type	healthcare
authorships[4].institutions[1].lineage	https://openalex.org/I4210098814, https://openalex.org/I4210134769
authorships[4].institutions[1].country_code	US
authorships[4].institutions[1].display_name	University of Pittsburgh Medical Center
authorships[4].author_position	middle
authorships[4].raw_author_name	Sukhleen Kour
authorships[4].is_corresponding	False
authorships[4].raw_affiliation_strings	Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, 1224, USA
authorships[5].author.id	https://openalex.org/A5059089541
authorships[5].author.orcid	https://orcid.org/0009-0009-0002-4540
authorships[5].author.display_name	Justin You
authorships[5].countries	CA
authorships[5].affiliations[0].institution_ids	https://openalex.org/I185261750
authorships[5].affiliations[0].raw_affiliation_string	Department of Molecular Genetics, University of Toronto, Toronto, M5S A, Canada
authorships[5].affiliations[1].institution_ids	https://openalex.org/I2801317318
authorships[5].affiliations[1].raw_affiliation_string	Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada
authorships[5].institutions[0].id	https://openalex.org/I2801317318
authorships[5].institutions[0].ror	https://ror.org/057q4rt57
authorships[5].institutions[0].type	healthcare
authorships[5].institutions[0].lineage	https://openalex.org/I2801317318
authorships[5].institutions[0].country_code	CA
authorships[5].institutions[0].display_name	Hospital for Sick Children
authorships[5].institutions[1].id	https://openalex.org/I185261750
authorships[5].institutions[1].ror	https://ror.org/03dbr7087
authorships[5].institutions[1].type	education
authorships[5].institutions[1].lineage	https://openalex.org/I185261750
authorships[5].institutions[1].country_code	CA
authorships[5].institutions[1].display_name	University of Toronto
authorships[5].author_position	middle
authorships[5].raw_author_name	Justin You
authorships[5].is_corresponding	False
authorships[5].raw_affiliation_strings	Department of Molecular Genetics, University of Toronto, Toronto, M5S A, Canada, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada
authorships[6].author.id	https://openalex.org/A5004119835
authorships[6].author.orcid	https://orcid.org/0000-0003-1487-1918
authorships[6].author.display_name	Rebekah van Bruggen
authorships[6].countries	CA
authorships[6].affiliations[0].institution_ids	https://openalex.org/I2801317318
authorships[6].affiliations[0].raw_affiliation_string	Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada
authorships[6].institutions[0].id	https://openalex.org/I2801317318
authorships[6].institutions[0].ror	https://ror.org/057q4rt57
authorships[6].institutions[0].type	healthcare
authorships[6].institutions[0].lineage	https://openalex.org/I2801317318
authorships[6].institutions[0].country_code	CA
authorships[6].institutions[0].display_name	Hospital for Sick Children
authorships[6].author_position	middle
authorships[6].raw_author_name	Rebekah van Bruggen
authorships[6].is_corresponding	False
authorships[6].raw_affiliation_strings	Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada
authorships[7].author.id	https://openalex.org/A5009058187
authorships[7].author.orcid	https://orcid.org/0000-0002-4657-0768
authorships[7].author.display_name	Mohieldin Youssef
authorships[7].countries	CA
authorships[7].affiliations[0].institution_ids	https://openalex.org/I2801317318
authorships[7].affiliations[0].raw_affiliation_string	Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada
authorships[7].institutions[0].id	https://openalex.org/I2801317318
authorships[7].institutions[0].ror	https://ror.org/057q4rt57
authorships[7].institutions[0].type	healthcare
authorships[7].institutions[0].lineage	https://openalex.org/I2801317318
authorships[7].institutions[0].country_code	CA
authorships[7].institutions[0].display_name	Hospital for Sick Children
authorships[7].author_position	middle
authorships[7].raw_author_name	Mohieldin M.M. Youssef
authorships[7].is_corresponding	False
authorships[7].raw_affiliation_strings	Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada
authorships[8].author.id	https://openalex.org/A5016453515
authorships[8].author.orcid	https://orcid.org/0000-0002-4354-7482
authorships[8].author.display_name	Ying‐Wooi Wan
authorships[8].countries	US
authorships[8].affiliations[0].institution_ids	https://openalex.org/I4210117334, https://openalex.org/I4210147586
authorships[8].affiliations[0].raw_affiliation_string	Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, 77030, USA
authorships[8].affiliations[1].institution_ids	https://openalex.org/I181547552
authorships[8].affiliations[1].raw_affiliation_string	Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 77030, USA
authorships[8].institutions[0].id	https://openalex.org/I181547552
authorships[8].institutions[0].ror	https://ror.org/02pttbw34
authorships[8].institutions[0].type	education
authorships[8].institutions[0].lineage	https://openalex.org/I181547552, https://openalex.org/I2801539370
authorships[8].institutions[0].country_code	US
authorships[8].institutions[0].display_name	Baylor College of Medicine
authorships[8].institutions[1].id	https://openalex.org/I4210117334
authorships[8].institutions[1].ror	https://ror.org/02ea83075
authorships[8].institutions[1].type	other
authorships[8].institutions[1].lineage	https://openalex.org/I4210117334
authorships[8].institutions[1].country_code	US
authorships[8].institutions[1].display_name	Neurological Research Institute
authorships[8].institutions[2].id	https://openalex.org/I4210147586
authorships[8].institutions[2].ror	https://ror.org/05cz92x43
authorships[8].institutions[2].type	healthcare
authorships[8].institutions[2].lineage	https://openalex.org/I4210147586
authorships[8].institutions[2].country_code	US
authorships[8].institutions[2].display_name	Texas Children's Hospital
authorships[8].author_position	middle
authorships[8].raw_author_name	Ying-Wooi Wan
authorships[8].is_corresponding	False
authorships[8].raw_affiliation_strings	Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 77030, USA, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, 77030, USA
authorships[9].author.id	https://openalex.org/A5004947640
authorships[9].author.orcid	https://orcid.org/0000-0002-7608-0831
authorships[9].author.display_name	Zhandong Liu
authorships[9].countries	US
authorships[9].affiliations[0].institution_ids	https://openalex.org/I4210117334, https://openalex.org/I4210147586
authorships[9].affiliations[0].raw_affiliation_string	Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, 77030, USA
authorships[9].affiliations[1].institution_ids	https://openalex.org/I181547552
authorships[9].affiliations[1].raw_affiliation_string	Department of Pediatrics, Baylor College of Medicine, Houston, 7700, USA
authorships[9].institutions[0].id	https://openalex.org/I181547552
authorships[9].institutions[0].ror	https://ror.org/02pttbw34
authorships[9].institutions[0].type	education
authorships[9].institutions[0].lineage	https://openalex.org/I181547552, https://openalex.org/I2801539370
authorships[9].institutions[0].country_code	US
authorships[9].institutions[0].display_name	Baylor College of Medicine
authorships[9].institutions[1].id	https://openalex.org/I4210117334
authorships[9].institutions[1].ror	https://ror.org/02ea83075
authorships[9].institutions[1].type	other
authorships[9].institutions[1].lineage	https://openalex.org/I4210117334
authorships[9].institutions[1].country_code	US
authorships[9].institutions[1].display_name	Neurological Research Institute
authorships[9].institutions[2].id	https://openalex.org/I4210147586
authorships[9].institutions[2].ror	https://ror.org/05cz92x43
authorships[9].institutions[2].type	healthcare
authorships[9].institutions[2].lineage	https://openalex.org/I4210147586
authorships[9].institutions[2].country_code	US
authorships[9].institutions[2].display_name	Texas Children's Hospital
authorships[9].author_position	middle
authorships[9].raw_author_name	Zhandong Liu
authorships[9].is_corresponding	False
authorships[9].raw_affiliation_strings	Department of Pediatrics, Baylor College of Medicine, Houston, 7700, USA, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, 77030, USA
authorships[10].author.id	https://openalex.org/A5051066678
authorships[10].author.orcid	https://orcid.org/0000-0001-5664-7987
authorships[10].author.display_name	Jill A. Rosenfeld
authorships[10].countries	US
authorships[10].affiliations[0].institution_ids	https://openalex.org/I4210162370
authorships[10].affiliations[0].raw_affiliation_string	Baylor Genetics Laboratories, Houston, 021, USA
authorships[10].affiliations[1].institution_ids	https://openalex.org/I181547552
authorships[10].affiliations[1].raw_affiliation_string	Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 77030, USA
authorships[10].institutions[0].id	https://openalex.org/I181547552
authorships[10].institutions[0].ror	https://ror.org/02pttbw34
authorships[10].institutions[0].type	education
authorships[10].institutions[0].lineage	https://openalex.org/I181547552, https://openalex.org/I2801539370
authorships[10].institutions[0].country_code	US
authorships[10].institutions[0].display_name	Baylor College of Medicine
authorships[10].institutions[1].id	https://openalex.org/I4210162370
authorships[10].institutions[1].ror	https://ror.org/05bxjx840
authorships[10].institutions[1].type	facility
authorships[10].institutions[1].lineage	https://openalex.org/I4210162370
authorships[10].institutions[1].country_code	US
authorships[10].institutions[1].display_name	Baylor Genetics
authorships[10].author_position	middle
authorships[10].raw_author_name	Jill A. Rosenfeld
authorships[10].is_corresponding	False
authorships[10].raw_affiliation_strings	Baylor Genetics Laboratories, Houston, 021, USA, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 77030, USA
authorships[11].author.id	https://openalex.org/A5028690216
authorships[11].author.orcid	https://orcid.org/0000-0003-2266-3238
authorships[11].author.display_name	Qiumin Tan
authorships[11].countries	CA
authorships[11].affiliations[0].institution_ids	https://openalex.org/I154425047
authorships[11].affiliations[0].raw_affiliation_string	Department of Cell Biology, University of Alberta, Edmonton, T6J 2H7, Canada
authorships[11].institutions[0].id	https://openalex.org/I154425047
authorships[11].institutions[0].ror	https://ror.org/0160cpw27
authorships[11].institutions[0].type	education
authorships[11].institutions[0].lineage	https://openalex.org/I154425047
authorships[11].institutions[0].country_code	CA
authorships[11].institutions[0].display_name	University of Alberta
authorships[11].author_position	middle
authorships[11].raw_author_name	Qiumin Tan
authorships[11].is_corresponding	False
authorships[11].raw_affiliation_strings	Department of Cell Biology, University of Alberta, Edmonton, T6J 2H7, Canada
authorships[12].author.id	https://openalex.org/A5073796554
authorships[12].author.orcid	https://orcid.org/0000-0002-6267-0179
authorships[12].author.display_name	Udai Bhan Pandey
authorships[12].countries	US
authorships[12].affiliations[0].institution_ids	https://openalex.org/I4210130600, https://openalex.org/I4210134769
authorships[12].affiliations[0].raw_affiliation_string	Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, 1224, USA
authorships[12].affiliations[1].institution_ids	https://openalex.org/I170201317
authorships[12].affiliations[1].raw_affiliation_string	Department of Human Genetics, University of Pittsburgh, School of Public Health, Pittsburgh, 15260, USA
authorships[12].institutions[0].id	https://openalex.org/I4210130600
authorships[12].institutions[0].ror	https://ror.org/03763ep67
authorships[12].institutions[0].type	healthcare
authorships[12].institutions[0].lineage	https://openalex.org/I4210098814, https://openalex.org/I4210130600, https://openalex.org/I4210134769
authorships[12].institutions[0].country_code	US
authorships[12].institutions[0].display_name	Children's Hospital of Pittsburgh
authorships[12].institutions[1].id	https://openalex.org/I170201317
authorships[12].institutions[1].ror	https://ror.org/01an3r305
authorships[12].institutions[1].type	education
authorships[12].institutions[1].lineage	https://openalex.org/I170201317
authorships[12].institutions[1].country_code	US
authorships[12].institutions[1].display_name	University of Pittsburgh
authorships[12].institutions[2].id	https://openalex.org/I4210134769
authorships[12].institutions[2].ror	https://ror.org/04ehecz88
authorships[12].institutions[2].type	healthcare
authorships[12].institutions[2].lineage	https://openalex.org/I4210098814, https://openalex.org/I4210134769
authorships[12].institutions[2].country_code	US
authorships[12].institutions[2].display_name	University of Pittsburgh Medical Center
authorships[12].author_position	middle
authorships[12].raw_author_name	Udai Bhan Pandey
authorships[12].is_corresponding	False
authorships[12].raw_affiliation_strings	Department of Human Genetics, University of Pittsburgh, School of Public Health, Pittsburgh, 15260, USA, Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, 1224, USA
authorships[13].author.id	https://openalex.org/A5000384375
authorships[13].author.orcid	https://orcid.org/0000-0001-9892-3054
authorships[13].author.display_name	Hari Krishna Yalamanchili
authorships[13].countries	US
authorships[13].affiliations[0].institution_ids	https://openalex.org/I4210141908
authorships[13].affiliations[0].raw_affiliation_string	USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA
authorships[13].affiliations[1].institution_ids	https://openalex.org/I4210117334, https://openalex.org/I4210147586
authorships[13].affiliations[1].raw_affiliation_string	Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, 77030, USA
authorships[13].affiliations[2].institution_ids	https://openalex.org/I181547552
authorships[13].affiliations[2].raw_affiliation_string	Department of Pediatrics, Baylor College of Medicine, Houston, 7700, USA
authorships[13].institutions[0].id	https://openalex.org/I181547552
authorships[13].institutions[0].ror	https://ror.org/02pttbw34
authorships[13].institutions[0].type	education
authorships[13].institutions[0].lineage	https://openalex.org/I181547552, https://openalex.org/I2801539370
authorships[13].institutions[0].country_code	US
authorships[13].institutions[0].display_name	Baylor College of Medicine
authorships[13].institutions[1].id	https://openalex.org/I4210141908
authorships[13].institutions[1].ror	https://ror.org/03s936v76
authorships[13].institutions[1].type	government
authorships[13].institutions[1].lineage	https://openalex.org/I1312222531, https://openalex.org/I1336096307, https://openalex.org/I4210141908, https://openalex.org/I4210145274
authorships[13].institutions[1].country_code	US
authorships[13].institutions[1].display_name	Children's Nutrition Research Center at Baylor College of Medicine
authorships[13].institutions[2].id	https://openalex.org/I4210117334
authorships[13].institutions[2].ror	https://ror.org/02ea83075
authorships[13].institutions[2].type	other
authorships[13].institutions[2].lineage	https://openalex.org/I4210117334
authorships[13].institutions[2].country_code	US
authorships[13].institutions[2].display_name	Neurological Research Institute
authorships[13].institutions[3].id	https://openalex.org/I4210147586
authorships[13].institutions[3].ror	https://ror.org/05cz92x43
authorships[13].institutions[3].type	healthcare
authorships[13].institutions[3].lineage	https://openalex.org/I4210147586
authorships[13].institutions[3].country_code	US
authorships[13].institutions[3].display_name	Texas Children's Hospital
authorships[13].author_position	middle
authorships[13].raw_author_name	Hari Krishna Yalamanchili
authorships[13].is_corresponding	True
authorships[13].raw_affiliation_strings	Department of Pediatrics, Baylor College of Medicine, Houston, 7700, USA, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, 77030, USA, USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA
authorships[14].author.id	https://openalex.org/A5018413457
authorships[14].author.orcid	https://orcid.org/0000-0003-1945-6684
authorships[14].author.display_name	Jeehye Park
authorships[14].countries	CA
authorships[14].affiliations[0].institution_ids	https://openalex.org/I185261750
authorships[14].affiliations[0].raw_affiliation_string	Department of Molecular Genetics, University of Toronto, Toronto, M5S A, Canada
authorships[14].affiliations[1].institution_ids	https://openalex.org/I2801317318
authorships[14].affiliations[1].raw_affiliation_string	Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada
authorships[14].institutions[0].id	https://openalex.org/I2801317318
authorships[14].institutions[0].ror	https://ror.org/057q4rt57
authorships[14].institutions[0].type	healthcare
authorships[14].institutions[0].lineage	https://openalex.org/I2801317318
authorships[14].institutions[0].country_code	CA
authorships[14].institutions[0].display_name	Hospital for Sick Children
authorships[14].institutions[1].id	https://openalex.org/I185261750
authorships[14].institutions[1].ror	https://ror.org/03dbr7087
authorships[14].institutions[1].type	education
authorships[14].institutions[1].lineage	https://openalex.org/I185261750
authorships[14].institutions[1].country_code	CA
authorships[14].institutions[1].display_name	University of Toronto
authorships[14].author_position	last
authorships[14].raw_author_name	Jeehye Park
authorships[14].is_corresponding	True
authorships[14].raw_affiliation_strings	Department of Molecular Genetics, University of Toronto, Toronto, M5S A, Canada, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, M5G 0A4, Canada
has_content.pdf	True
has_content.grobid_xml	True
is_paratext	False
open_access.is_oa	True
open_access.oa_url	https://www.biorxiv.org/content/biorxiv/early/2023/12/08/2023.12.07.570685.full.pdf
open_access.oa_status	green
open_access.any_repository_has_fulltext	False
created_date	2025-10-10T00:00:00
display_name	Differential effects of MATR3 variants on its cryptic splicing repression function
has_fulltext	True
is_retracted	False
updated_date	2025-11-06T03:46:38.306776
primary_topic.id	https://openalex.org/T10604
primary_topic.field.id	https://openalex.org/fields/13
primary_topic.field.display_name	Biochemistry, Genetics and Molecular Biology
primary_topic.score	0.9998999834060669
primary_topic.domain.id	https://openalex.org/domains/1
primary_topic.domain.display_name	Life Sciences
primary_topic.subfield.id	https://openalex.org/subfields/1312
primary_topic.subfield.display_name	Molecular Biology
primary_topic.display_name	RNA Research and Splicing
related_works	https://openalex.org/W2130439870, https://openalex.org/W2800537687, https://openalex.org/W2147652847, https://openalex.org/W178291922, https://openalex.org/W1976843764, https://openalex.org/W2000278701, https://openalex.org/W3215633333, https://openalex.org/W2349910028, https://openalex.org/W1671586832, https://openalex.org/W2151954452
cited_by_count	0
locations_count	1
best_oa_location.id	doi:10.1101/2023.12.07.570685
best_oa_location.is_oa	True
best_oa_location.source.id	https://openalex.org/S4306402567
best_oa_location.source.issn
best_oa_location.source.type	repository
best_oa_location.source.is_oa	False
best_oa_location.source.issn_l
best_oa_location.source.is_core	False
best_oa_location.source.is_in_doaj	False
best_oa_location.source.display_name	bioRxiv (Cold Spring Harbor Laboratory)
best_oa_location.source.host_organization	https://openalex.org/I2750212522
best_oa_location.source.host_organization_name	Cold Spring Harbor Laboratory
best_oa_location.source.host_organization_lineage	https://openalex.org/I2750212522
best_oa_location.license	cc-by-nc-nd
best_oa_location.pdf_url	https://www.biorxiv.org/content/biorxiv/early/2023/12/08/2023.12.07.570685.full.pdf
best_oa_location.version	acceptedVersion
best_oa_location.raw_type	posted-content
best_oa_location.license_id	https://openalex.org/licenses/cc-by-nc-nd
best_oa_location.is_accepted	True
best_oa_location.is_published	False
best_oa_location.raw_source_name
best_oa_location.landing_page_url	https://doi.org/10.1101/2023.12.07.570685
primary_location.id	doi:10.1101/2023.12.07.570685
primary_location.is_oa	True
primary_location.source.id	https://openalex.org/S4306402567
primary_location.source.issn
primary_location.source.type	repository
primary_location.source.is_oa	False
primary_location.source.issn_l
primary_location.source.is_core	False
primary_location.source.is_in_doaj	False
primary_location.source.display_name	bioRxiv (Cold Spring Harbor Laboratory)
primary_location.source.host_organization	https://openalex.org/I2750212522
primary_location.source.host_organization_name	Cold Spring Harbor Laboratory
primary_location.source.host_organization_lineage	https://openalex.org/I2750212522
primary_location.license	cc-by-nc-nd
primary_location.pdf_url	https://www.biorxiv.org/content/biorxiv/early/2023/12/08/2023.12.07.570685.full.pdf
primary_location.version	acceptedVersion
primary_location.raw_type	posted-content
primary_location.license_id	https://openalex.org/licenses/cc-by-nc-nd
primary_location.is_accepted	True
primary_location.is_published	False
primary_location.raw_source_name
primary_location.landing_page_url	https://doi.org/10.1101/2023.12.07.570685
publication_date	2023-12-08
publication_year	2023
referenced_works	https://openalex.org/W2001952613, https://openalex.org/W1488980960, https://openalex.org/W1997535872, https://openalex.org/W2197459998, https://openalex.org/W2415174329, https://openalex.org/W2012085745, https://openalex.org/W2524029497, https://openalex.org/W2527740055, https://openalex.org/W1904847174, https://openalex.org/W4317797127, https://openalex.org/W4317830831, https://openalex.org/W2912165492, https://openalex.org/W2910480975, https://openalex.org/W4213441627, https://openalex.org/W4213435307, https://openalex.org/W2929734511, https://openalex.org/W2085351745, https://openalex.org/W2069590842, https://openalex.org/W2038703934, https://openalex.org/W2080108863, https://openalex.org/W3211996730, https://openalex.org/W2766711977, https://openalex.org/W2042744684, https://openalex.org/W2167035187, https://openalex.org/W2735479569, https://openalex.org/W2041676007, https://openalex.org/W2010289839, https://openalex.org/W3208292419, https://openalex.org/W1974572117, https://openalex.org/W2797495365, https://openalex.org/W2919268190, https://openalex.org/W2106246165, https://openalex.org/W2137674179, https://openalex.org/W2473840992, https://openalex.org/W1553289412, https://openalex.org/W2194656083, https://openalex.org/W1986713574, https://openalex.org/W2013794076, https://openalex.org/W3094421202, https://openalex.org/W2951485368, https://openalex.org/W4213275239, https://openalex.org/W3175789394, https://openalex.org/W2951912016, https://openalex.org/W2964849163, https://openalex.org/W2108234281, https://openalex.org/W2138207763, https://openalex.org/W2179438025, https://openalex.org/W2066231767, https://openalex.org/W2896758936, https://openalex.org/W2102619694, https://openalex.org/W2158266834, https://openalex.org/W2131271579, https://openalex.org/W2341539131, https://openalex.org/W2104005232, https://openalex.org/W4233582454, https://openalex.org/W3146657786, https://openalex.org/W4200241726, https://openalex.org/W3157363683, https://openalex.org/W3165762517, https://openalex.org/W3005541452, https://openalex.org/W1974322725, https://openalex.org/W2883919904, https://openalex.org/W4220812095, https://openalex.org/W2004838004, https://openalex.org/W2099694384, https://openalex.org/W2933308068, https://openalex.org/W2040422211, https://openalex.org/W3068589431, https://openalex.org/W3033381727, https://openalex.org/W2949409182, https://openalex.org/W2907108807, https://openalex.org/W4283702206, https://openalex.org/W4220953393, https://openalex.org/W2033596900, https://openalex.org/W3120223796, https://openalex.org/W2089861793
referenced_works_count	76
abstract_inverted_index.a	71
abstract_inverted_index.In	67
abstract_inverted_index.We	37, 51
abstract_inverted_index.an	3
abstract_inverted_index.in	7, 21, 48, 78
abstract_inverted_index.is	2, 14
abstract_inverted_index.of	19, 27, 41, 95
abstract_inverted_index.to	44
abstract_inverted_index.we	69
abstract_inverted_index.RNA	65, 88
abstract_inverted_index.and	9, 30, 86, 90, 106
abstract_inverted_index.but	61
abstract_inverted_index.how	31, 108
abstract_inverted_index.not	63
abstract_inverted_index.our	98
abstract_inverted_index.the	17, 25, 79
abstract_inverted_index.RRM2	80
abstract_inverted_index.S85C	55
abstract_inverted_index.does	62
abstract_inverted_index.exon	46
abstract_inverted_index.loss	40
abstract_inverted_index.many	49
abstract_inverted_index.role	18
abstract_inverted_index.show	38
abstract_inverted_index.that	39, 53
abstract_inverted_index.this	35
abstract_inverted_index.M548T	75
abstract_inverted_index.MATR3	1, 20, 42, 59, 112
abstract_inverted_index.genes	29, 105
abstract_inverted_index.known	15
abstract_inverted_index.leads	43
abstract_inverted_index.novel	72
abstract_inverted_index.which	82
abstract_inverted_index.MATR3.	96
abstract_inverted_index.events	102
abstract_inverted_index.impact	34, 111
abstract_inverted_index.impair	64
abstract_inverted_index.little	13
abstract_inverted_index.report	70
abstract_inverted_index.reveal	52
abstract_inverted_index.within	24, 103
abstract_inverted_index.binding	89
abstract_inverted_index.context	26
abstract_inverted_index.cryptic	22, 45, 91, 101, 113
abstract_inverted_index.domain,	81
abstract_inverted_index.impairs	87
abstract_inverted_index.located	77
abstract_inverted_index.protein	5, 84
abstract_inverted_index.reduces	58, 83
abstract_inverted_index.variant	57
abstract_inverted_index.Abstract	0
abstract_inverted_index.However,	12
abstract_inverted_index.binding.	66
abstract_inverted_index.research	99
abstract_inverted_index.splicing	23, 92, 114
abstract_inverted_index.variant,	76
abstract_inverted_index.variants	33, 110
abstract_inverted_index.diseases.	11
abstract_inverted_index.function.	36, 116
abstract_inverted_index.functions	94
abstract_inverted_index.inclusion	47
abstract_inverted_index.parallel,	68
abstract_inverted_index.regarding	16
abstract_inverted_index.ALS-linked	54
abstract_inverted_index.functional	28, 104
abstract_inverted_index.identifies	100
abstract_inverted_index.implicated	6
abstract_inverted_index.pathogenic	56
abstract_inverted_index.repression	93, 115
abstract_inverted_index.solubility	60, 85
abstract_inverted_index.Altogether,	97
abstract_inverted_index.RNA-binding	4
abstract_inverted_index.demonstrates	107
abstract_inverted_index.transcripts.	50
abstract_inverted_index.neurodegenerative	8
abstract_inverted_index.disease-associated	32, 74, 109
abstract_inverted_index.neurodevelopmental	10, 73
cited_by_percentile_year
corresponding_author_ids	https://openalex.org/A5000384375, https://openalex.org/A5018413457
countries_distinct_count	2
institutions_distinct_count	15
corresponding_institution_ids	https://openalex.org/I181547552, https://openalex.org/I185261750, https://openalex.org/I2801317318, https://openalex.org/I4210117334, https://openalex.org/I4210141908, https://openalex.org/I4210147586
citation_normalized_percentile.value	0.33999493
citation_normalized_percentile.is_in_top_1_percent	False
citation_normalized_percentile.is_in_top_10_percent	False