Dr. Jonathan Whitchurch

Biography & Research interests

In 2018, I began my 4-year MRC Post-Doctoral Training Fellowship at the MRC Harwell Institute, as a member of the Cilia, Development & Disease group, having completed a BBSRC-funded DTP PhD within the Gene Regulation and RNA Biology Laboratory (GRRB) at the University of Nottingham earlier that year. As part of my current role, I am characterising the molecular functions and elucidating interaction partners of two novel proteins which have been implicated in the determination of left-right body patterning during development, using a combination of in vivo and in vitro techniques. My main research interests focus upon elucidating the molecular mechanisms behind de novo developmental syndromes, in order to help reduce diagnostic odyssey and progress towards treatments that can improve the quality of life of afflicted individuals.

I obtained my BSc in Biochemistry with Genetics in 2012 from Lancaster University and from then until 2014, I worked in a patient care role in the NHS, gained experience in a cytogenetics laboratory and also worked as a Quality Analyst in a microbiology laboratory for a regional water supply company, checking that water supplies were not harbouring pathogenic bacteria. These experiences made me realise that I missed scientific research, and so in 2014 I joined the University of Nottingham to undertake a PhD.

During my PhD, my research project was to investigate the molecular mechanisms of disease pathogenesis involving the KAT6A gene, which encodes a histone acetyltransferase and chromatin regulatory protein termed MOZ or MYST3. Recent reports have described clinical variants that generate premature termination codons and frameshifts within exons 17 and 18 of the KAT6A gene. These patients present with global developmental delay, intellectual disability, facial dysmorphism, cardiac defects and microcephaly, a syndrome referred to as KAT6A Global Developmental Delay. As yet, there is little evidence in the literature regarding the molecular mechanism of pathogenesis. Findings from this work will be crucial in understanding both the aetiology and the wide spectrum of clinical phenotypes associated with this syndrome.

Current Projects

  1. Molecular characterisation of novel proteins suspected of being involved in cilia formation or function, along with their role in the specification of left-right body patterning during mammalian development.
  2. Determination of the molecular mechanism behind KAT6A Global Developmental Delay.
  3. Analysis of physical interactions between chromatin regulators and their functional consequences.
  4. Nuclear receptor interactions.

Selected Publications

Ngee Lek, Rieko Tadokoro-Cuccaro, Jonathan B. Whitchurch, Bismoy Mazumder, Harriet Miles, Philippa Prentice, Trevor Bunch, Karolina Zielińska, Veronika Metzler, Nigel P. Mongan, David M. Heery, Ieuan A. Hughes. (2018) Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices. EBioMedicine, 36, pp. 401-409. DOI:10.1016/j.ebiom.2018.09.047

Joel Fulton, Bismoy Mazumder, Jonathan B Whitchurch, Cintia J Monteiro, Hilary M Collins, Chun M Chan, Maria P Clemente, Miguel Hernandez-Quiles, Elizabeth A Stewart, Winfried M Amoaku, Paula M Moran, Nigel P Mongan, Jenny L Persson, Simak Ali, David M Heery. (2017) Heterodimers of photoreceptor-specific nuclear receptor (PNRNR2E3) and peroxisome proliferator-activated receptor- (PPAR) are disrupted by retinal disease-associated mutations. Cell Death & Disease, 8(e2677). DOI:10.1038/cddis.2017.98

Veronika M Metzler, Simone de Brot, Robert S Robinson, Jennie N Jeyapalan, Emad Rakha, Thomas Walton, David S Gardner, Emma F Lund, Jonathan Whitchurch, Daisy Haigh, Jack M Lochray, Brian D Robinson, Cinzia Allegrucci, Rupert G Fray, Jenny L Persson, Niels Ødum, Regina R Miftakhova, Albert A Rizvanov, Ieuan A Hughes, Rieko Tadokoro-Cuccaro, David M Heery, Catrin S Rutland, Nigel P Mongan. (2017) Androgen dependent mechanisms of pro-angiogenic networks in placental and tumor development. Placenta, 56, pp. 79-85. DOI:10.1016/j.placenta.2017.02.018

Emeli M. Nilsson, Kristian B. Laursen, Jonathan Whitchurch, Andrew McWilliam, Niels Ødum, Jenny L. Persson, David M. Heery, Lorraine J. Gudas and Nigel P. Mongan. (2015) MiR137 is an androgen regulated repressor of an extended network of transcriptional coregulators. Oncotarget, 6(34), pp. 35710-35725. DOI:10.18632/oncotarget.5958