Dr Jose Pueyo-Marques

Biography

Jose's career began at the Genetics’ Department (Valencia University) investigating the muscleblind gene in Drosophila, whose mutations in humans cause muscular-dystrophy. During his PhD (London University; Prof Couso), he characterised a functional code of Lim-Hox proteins involved in Drosophila leg segments formation, previously only being implicated in neural-specification, thus extending their functional repertoire with important implications due to their conservation. 

At the beginning of his postdoctoral career (University of Sussex), Jose explored the evolution of developmental mechanisms through a comparative analysis involving Drosophila and the cockroach-Periplaneta. This revealed that the role of Wnt and Notch pathways during embryonic segmentation, which doesn’t exist in Drosophila, appears to be conserved among arthropods and vertebrates. Furthermore, he functionally characterised the tarsal-less(tal) gene encoding 11-32aa peptides. Tal peptides act as a signals that regulates the posttranscriptional-processing of Shavenbaby. In addition, Tal peptides belong an ancient gene family appearing >330 MYA.

Recently, Jose has focused on the characterisation of Drosophila smORFs and their functional homology. First, he showed that sarcolamban(scl) 29aa peptides are involved in heart contraction rhythmicity. Scl belongs to a conserved family and mutations in their human counterparts produce cardiac arrhythmias. In addition, Jose's research has demonstrated that these peptides regulate calcium SERCA pump. In macrophages, he found that Hemotin(88aa) localises at endosomes and regulates their maturation during phagocytosis through Pi3K inhibition. Its vertebrate homologue Stannin is able to fulfil Hemotin’s function and has been related to heavy-metal-cytotoxicity. Thus, smORFs are functional units of the genome whose research can bring great discoveries with important medical implications.