Molecular studies of the circadian control candidate genes in the mouse Smith-Magenis syndrome syntenic region.
The Smith-Magenis syndrome (SMS) is a contiguous gene syndrome which is associated with the deletion in chromosome 17 p11.2. The common clinical features of SMS patients include mental retardation, delayed speech and motor development, behavior problems, sleep disturbance, minor craniofacial abnorma...
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| Format: | Research Report |
| Language: | English |
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2010
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| Online Access: | http://hdl.handle.net/10356/41874 |
| _version_ | 1826116349395468288 |
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| author | Chen, Ken Shiung. |
| author2 | School of Biological Sciences |
| author_facet | School of Biological Sciences Chen, Ken Shiung. |
| author_sort | Chen, Ken Shiung. |
| collection | NTU |
| description | The Smith-Magenis syndrome (SMS) is a contiguous gene syndrome which is associated with the deletion in chromosome 17 p11.2. The common clinical features of SMS patients include mental retardation, delayed speech and motor development, behavior problems, sleep disturbance, minor craniofacial abnormalities, short stature, and brachydactyly. Recent works in circadian clock have addressed possible molecular links
between the endogenous circadian clock and cell cycle regulation. One of the interesting
phenotype Associated with SMS is sleep disturbance. RASDl and RAIl are located in the SMS critical region and have, recently, been implicated in contributing to the sleep disturbance phenotypes in SMS. In this proposal, we aim to determine the cellular roles of these two genes by identifying the interacting proteins and studying the transcription regulatory elements.
Thymine DNA glycosylase (Tdg) and angiogenic factor with G-patch and FHA domain
(Iggfl) were identified as Rail interacting proteins while NonD and. Tubb5 were identified as Rasd1 interacting protein. Furthermore, we have identified functional retinoic acid receptors binding site in the Rail promoter first intron region and functional glucocorticoid response
element (GRE) consensus sequence ~2kb downstream of Rasdl. |
| first_indexed | 2024-10-01T04:10:13Z |
| format | Research Report |
| id | ntu-10356/41874 |
| institution | Nanyang Technological University |
| language | English |
| last_indexed | 2024-10-01T04:10:13Z |
| publishDate | 2010 |
| record_format | dspace |
| spelling | ntu-10356/418742023-02-28T17:58:20Z Molecular studies of the circadian control candidate genes in the mouse Smith-Magenis syndrome syntenic region. Chen, Ken Shiung. School of Biological Sciences DRNTU::Science::Biological sciences::Molecular biology The Smith-Magenis syndrome (SMS) is a contiguous gene syndrome which is associated with the deletion in chromosome 17 p11.2. The common clinical features of SMS patients include mental retardation, delayed speech and motor development, behavior problems, sleep disturbance, minor craniofacial abnormalities, short stature, and brachydactyly. Recent works in circadian clock have addressed possible molecular links between the endogenous circadian clock and cell cycle regulation. One of the interesting phenotype Associated with SMS is sleep disturbance. RASDl and RAIl are located in the SMS critical region and have, recently, been implicated in contributing to the sleep disturbance phenotypes in SMS. In this proposal, we aim to determine the cellular roles of these two genes by identifying the interacting proteins and studying the transcription regulatory elements. Thymine DNA glycosylase (Tdg) and angiogenic factor with G-patch and FHA domain (Iggfl) were identified as Rail interacting proteins while NonD and. Tubb5 were identified as Rasd1 interacting protein. Furthermore, we have identified functional retinoic acid receptors binding site in the Rail promoter first intron region and functional glucocorticoid response element (GRE) consensus sequence ~2kb downstream of Rasdl. 2010-08-27T04:14:58Z 2010-08-27T04:14:58Z 2008 2008 Research Report http://hdl.handle.net/10356/41874 en 47 p. application/pdf |
| spellingShingle | DRNTU::Science::Biological sciences::Molecular biology Chen, Ken Shiung. Molecular studies of the circadian control candidate genes in the mouse Smith-Magenis syndrome syntenic region. |
| title | Molecular studies of the circadian control candidate genes in the mouse Smith-Magenis syndrome syntenic region. |
| title_full | Molecular studies of the circadian control candidate genes in the mouse Smith-Magenis syndrome syntenic region. |
| title_fullStr | Molecular studies of the circadian control candidate genes in the mouse Smith-Magenis syndrome syntenic region. |
| title_full_unstemmed | Molecular studies of the circadian control candidate genes in the mouse Smith-Magenis syndrome syntenic region. |
| title_short | Molecular studies of the circadian control candidate genes in the mouse Smith-Magenis syndrome syntenic region. |
| title_sort | molecular studies of the circadian control candidate genes in the mouse smith magenis syndrome syntenic region |
| topic | DRNTU::Science::Biological sciences::Molecular biology |
| url | http://hdl.handle.net/10356/41874 |
| work_keys_str_mv | AT chenkenshiung molecularstudiesofthecircadiancontrolcandidategenesinthemousesmithmagenissyndromesyntenicregion |