مورد إلكتروني
Pleiotropic brain function of whirlin identified by a novel mutation
| العنوان: | Pleiotropic brain function of whirlin identified by a novel mutation |
|---|---|
| المؤلفون: | Aguilar, Carlos, Williams, Debbie, Kurapati, Ramakrishna, Bains, Rasneer S., Mburu, Philomena, Parker, Andy, Williams, Jackie, Concas, Danilo, Tateossian, Hilda, Haynes, Andrew R., Banks, Gareth, Vikhe, Pratik, Heise, Ines, Hutchison, Marie, Atkins, Gemma, Gillard, Simon, Starbuck, Becky, Oliveri, Simona, Blake, Andrew, Sethi, Siddharth, Kumar, Saumya, Bardhan, Tanaya, Jeng Jing-Yi, Johnson, Stuart L., Corns, Lara F., Marcotti, Walter, Simon, Michelle, Wells, Sara, Potter, Paul K., Lad, Heena V. |
| بيانات النشر: | [in press] |
| تفاصيل مُضافة: | Williams, Debbie Kurapati, Ramakrishna Bains, Rasneer S. Mburu, Philomena Parker, Andy Williams, Jackie Concas, Danilo Tateossian, Hilda Haynes, Andrew R. Banks, Gareth Vikhe, Pratik Heise, Ines Hutchison, Marie Atkins, Gemma Gillard, Simon Starbuck, Becky Oliveri, Simona Blake, Andrew Sethi, Siddharth Kumar, Saumya Bardhan, Tanaya Jeng Jing-Yi Johnson, Stuart L. Corns, Lara F. Marcotti, Walter Simon, Michelle Wells, Sara Potter, Paul K. Lad, Heena V. |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Despite some evidence indicating diverse roles of whirlin in neurons, the functional corollary of whirlin gene function and behaviour has not been investigated or broadly characterised. A single nucleotide variant was identified from our recessive ENU-mutagenesis screen at a donor-splice site in whirlin, a protein critical for proper sensorineural hearing function. The mutation (head-bob, hb) led to partial intron-retention causing a frameshift and introducing a premature termination codon. Mutant mice had a head-bobbing phenotype and significant hyperactivity across several phenotyping tests. Lack of complementation of head-bob with whirler mutant mice confirmed the head-bob mutation as functionally distinct with compound mutants having a mild-moderate hearing defect. Utilising transgenics, we demonstrate rescue of the hyperactive phenotype and combined with the expression profiling data conclude whirlin plays an essential role in activity-related behaviours. These results highlight a pleiotropic role of whirlin within the brain and implicates alternative, central mediated pathways in its function. |
| مصطلحات الفهرس: | journal article |
| URL: | |
| الإتاحة: | Open access content. Open access content CC BY 4.0 |
| ملاحظة: | English |
| أرقام أخرى: | UKOBD tle:3d6af7f6-736c-431e-b11e-b327c3136542:afee126f-04b2-41a9-a6dd-b29b7c6c20ab:1 https://radar.brookes.ac.uk/radar/items/3d6af7f6-736c-431e-b11e-b327c3136542/1/ https://radar.brookes.ac.uk/radar/file/3d6af7f6-736c-431e-b11e-b327c3136542/1/PIIS2589004224013956.pdf 1443599960 |
| المصدر المساهم: | RADAR - OXFORD BROOKES UNIV REPOSITORY From OAIster®, provided by the OCLC Cooperative. |
| رقم الأكسشن: | edsoai.on1443599960 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |