The effect of PRKD1 mutations in heart development (360G-Wellcome-202371_Z_16_Z)
Congenital heart disease (CHD) affects around 1 in 133 newborns. The majority of cases are sporadic but there is increasing evidence of a significant genetic contribution. To identify genes involved in CHD the Brook lab has conducted exome sequencing in collaboration with Matt Hurles at the Wellcome Trust Sanger Institute. This has led to the identification of several novel genes involved in syndromic CHD, including the protein kinase D1 (PRKD1). Genetic network analysis suggests PRKD1 is linked to other genes implicated in CHD. In this study PRKD1 will be cloned and CHD-causing mutant versions of the gene generated using site-directed mutagensis. HDAC4 and HDAC5 are known to be targets for PRKD1 phosphorylation. Kinase assays will be established to compare the mutant proteins' capacity to interact with and phosphorylate HDAC4 and HDAC5, compared to the wild-type version of PRKD1. This will provide valuable insights to the role of PRKD1 in heart development.
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Grant Details
| Amount Awarded | 2000 |
| Applicant Surname | Wong |
| Approval Committee | Internal Decision Panel for C&S |
| Award Date | 2016-04-01T00:00:00+00:00 |
| Financial Year | 2015/16 |
| Grant Programme: Title | Vacation Scholarships |
| Internal ID | 202371/Z/16/Z |
| Lead Applicant | Miss Ka-Wing Wong |
| Partnership Value | 2000 |
| Planned Dates: End Date | 2016-09-02T00:00:00+00:00 |
| Planned Dates: Start Date | 2016-07-04T00:00:00+00:00 |
| Recipient Org: Country | United Kingdom |
| Region | East Midlands |