- Vacancy Reference Number
- MRC18NMHCa Isles
- Closing Date
- 24 Nov 2017
- Salary
- £14,553
- Address
- MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University
- Duration
- 3.5 years
Project title: Ehmt1 and the epigenetic control of genomic imprinting in neurodevelopmental disorders
Mutations that lead to haploinsufficiency of EHMT1 are known to be pathogenic for a number of neurodevelopmental disorders, including Kleefstra syndrome, developmental delay and Autism Spectrum Disorder (ASD). Taken together, these genetic data suggest a central importance for EHMT1 in brain development.
Our hypothesis is:
Haploinsuffficiency of Ehmt1 leads to abnormal genomic imprinting during neurodevelopment
The project has the following objectives:
1: To determine whether Ehmt1 haploinsufficiency alters DNA-me at imprinting control regions in Ehmt1-ko mESCs
2: Examine DNA-me and gene expression in specialized neural cell types derived (in vitro) from Ehmt1-ko mESCs to determine whether Ehmt1 dosage is critical for maintenance of imprinting and correct IG expression.
3: Use RNA-seq to examine allele specific expression in an Ehmt1-ko X CAST/EiJ F1 reciprocal cross to address whether Ehmt1 haploinsufficiency leads to biallelic IG expression in developing and adult mouse neural tissues
Further Information
Full details of the project and the GW4 BioMed Doctoral Training Programme can be found here - http://www.gw4biomed.ac.uk
Specific details of the application process can be found here - http://www.gw4biomed.ac.uk/projects-2/
Contact Details
For informal enquiries please contact the main supervisor, Prof Anthony Isles (islesar1@cardiff.ac.uk)
