Artikel ; Online: Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.
2024 Band 15, Heft 1, Seite(n) 1210
Abstract: We implicated the X-chromosome THOC2 gene, which encodes the largest subunit of the highly-conserved TREX (Transcription-Export) complex, in a clinically complex neurodevelopmental disorder with intellectual disability as the core phenotype. To study the ...
Abstract | We implicated the X-chromosome THOC2 gene, which encodes the largest subunit of the highly-conserved TREX (Transcription-Export) complex, in a clinically complex neurodevelopmental disorder with intellectual disability as the core phenotype. To study the molecular pathology of this essential eukaryotic gene, we generated a mouse model based on a hypomorphic Thoc2 exon 37-38 deletion variant of a patient with ID, speech delay, hypotonia, and microcephaly. The Thoc2 exon 37-38 deletion male (Thoc2 |
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Mesh-Begriff(e) | Humans ; Male ; Mice ; Animals ; Transcription Factors/metabolism ; R-Loop Structures ; Active Transport, Cell Nucleus ; Intellectual Disability/genetics ; DNA Damage ; Phenotype ; RNA, Messenger/metabolism |
Chemische Substanzen | Transcription Factors ; RNA, Messenger |
Sprache | Englisch |
Erscheinungsdatum | 2024-02-08 |
Erscheinungsland | England |
Dokumenttyp | Journal Article |
ZDB-ID | 2553671-0 |
ISSN | 2041-1723 ; 2041-1723 |
ISSN (online) | 2041-1723 |
ISSN | 2041-1723 |
DOI | 10.1038/s41467-024-45121-5 |
Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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