التفاصيل البيبلوغرافية
| العنوان: |
Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo |
| المؤلفون: |
Danielle L Blackwell, Sherri D Fraser, Oana Caluseriu, Claudia Vivori, Amanda V Tyndall, Ryan E Lamont, Jillian S Parboosingh, A Micheil Innes, François P Bernier, Sarah J Childs |
| المصدر: |
G3: Genes, Genomes, Genetics, Vol 12, Iss 5 (2022) |
| بيانات النشر: |
Oxford University Press, 2022. |
| سنة النشر: |
2022 |
| المجموعة: |
LCC:Genetics |
| مصطلحات موضوعية: |
Genetics, QH426-470 |
| الوصف: |
AbstractMutations in RNA-binding proteins can lead to pleiotropic phenotypes including craniofacial, skeletal, limb, and neurological symptoms. Heterogeneous nuclear ribonucleoproteins (hnRNPs) are involved in nucleic acid binding, transcription, and splicing through direct binding to DNA and RNA, or through interaction with other proteins in the spliceosome. We show a developmental role for Hnrnpul1 in zebrafish, resulting in reduced body and fin growth and missing bones. Defects in craniofacial tendon growth and adult-onset caudal scoliosis are also seen. We demonstrate a role for Hnrnpul1 in alternative splicing and transcriptional regulation using RNA-sequencing, particularly of genes involved in translation, ubiquitination, and DNA damage. Given its cross-species conservation and role in splicing, it would not be surprising if it had a role in human development. Whole-exome sequencing detected a homozygous frameshift variant in HNRNPUL1 |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
2160-1836 |
| Relation: |
https://doaj.org/toc/2160-1836 |
| DOI: |
10.1093/g3journal/jkac067 |
| URL الوصول: |
https://doaj.org/article/366d8921841d47e799ad4eed47dc49fa |
| رقم الانضمام: |
edsdoj.366d8921841d47e799ad4eed47dc49fa |
| قاعدة البيانات: |
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