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Diaz-Arias, I.

Publications and source records attributed to Diaz-Arias, I..

3 recordsLinked to original sources

Unfolding of the disease-linked bank vole prion protein E200K in the context of PrPSc propagation

The elucidation of the atomistic structure of PrPSc has, disappointingly, not revealed the mechanism underlying prion propagation. This is because PrPSc has been shown to be a standard amyloid, and as such, it can only template a polypeptide chain that is unfolded. Therefore, while PrPSc can easily template the disordered ~90-120 domain of an incoming PrPC molecule, it does not have any obvious capacity to template its ~121-231 folded domain (FD). The FD needs to accommodate into the ~121-230 PrPSc surface, an inert "Procrustean bed". We have recently proposed that unfolding of the FD is a prerequisite for its conversion to the PrPSc conformation and using experimental and computational methods identified the likely early events of such process using bank vole (BV)PrP(90-231) as our working model. We concluded that a key early event is the destabilization of the short {beta}1-{beta}2 assembly, and that the segment contiguous to the disordered tail, ~121-140, encompassing {beta}1 and its adjacent coils, is the most likely region to unfold first. In the present study we applied the same methodology to the disease-related PrP mutant E200K. E200K is the most prevalent mutation leading to familial prion disease in humans, yet the stability of its FD is only marginally lower compared to that of the protein with the wild type (wt) sequence. We, therefore, aimed at assessing whether the early unfolding events of BVPrPC(E200K) are similar or different to those of wtBVPrPC and whether such early unfolding route might provide insight into the extreme capacity of PrPC(E200K) to spontaneously generate PrPSc. It should be noted that generation and propagation of PrPSc are distinct phenomena, even though both are mechanistically related and dependent on conformational changes in PrPC. Our data show that early unfolding events of BVPrPC(E200K) are essentially similar to those of wt BVPrPC. However, interesting nuances exist.

biochemistry↗

Unfold to refold: Tracking the initial steps of PrPC unfolding in the context of PrPSc propagation

It might have been believed that elucidation of the atomistic structure of PrPSc would lead to an immediate understanding of the mechanism of prion propagation. However, PrPSc, now known to be a "simple" amyloid, can just template a previously unfolded polypeptide chain. Therefore, PrPSc can easily template the disordered [~]90-120 domain of an incoming PrPC molecule, but not its [~]121-231 folded domain (FD). The FD needs to accommodate into the [~]121-230 PrPSc surface, an inert "procrustean bed". Thus, a mechanism for concerted unfolding/refolding of the FD must exist, with FD unfolding as a key element. To explore how this might happen, we performed thermal unfolding of recombinant bank vole PrPC(90-231), that is a universal PrPSc propagator PrPSc, tracking changes at the residue level with solution NMR to pinpoint early unfolding propensity. Our data suggest that a key early event is the destabilization of the short {beta}1-{beta}2 assembly, and that the segment contiguous to the disordered tail, [~]121-140, encompassing {beta}1 and its adjacent coils, is the most likely region to unfold first. Spectroscopic data obtained at higher temperatures suggest that portions of alpha helix 2 are likely the last elements of the FD to unfold and refold into the PrPSc conformation. Molecular Dynamics simulations assisted the interpretation of these changes and suggest separation of 1 from the rest of the FD ensemble. Our data provide a conceivable timeline of the early events in PrPSc-assisted conversion of PrPC and should serve as a starting framework to develop a future atomistic model of PrPSc propagation.

biochemistry↗

Synchronous L1 retrotransposition events promote chromosomal crossover early in human tumorigenesis

L1 retrotransposition is a significant source of genomic variation in human epithelial tumours, which can contribute to tumorigenesis. However, fundamental questions about the causes and consequences of L1 activity in cancer genomes remain unresolved, primarily due to the limitations of short-read sequencing technologies. Here, we employ multiplatform sequencing, with an emphasis on long reads, to analyse a fine selection of 10 tumours exhibiting high rates of somatic retrotransposition, encompassing over 6000 events. The analysis of L1 locus-specific single-nucleotide variants reveals a novel panorama of L1 loci activity. Furthermore, examination of the internal structure of somatic L1s uncovers the mechanisms behind their inactivation. A hidden landscape of chromosomal aberrations emerges in the light of long reads, where reciprocal translocations mediated by L1 insertion represent frequent events. Resolution of L1 bridges configuration elucidates the mechanisms of their formation, where typically two independent, but synchronous, somatic L1 insertions drive the reciprocal exchange between non-homologous chromosomes. Timing analyses indicate that L1 retrotransposition is an early driver of chromosomal instability, active before the first whole-genome doubling event. Overall, these findings highlight L1 activity as a more significant contributor to tumour genome plasticity than previously recognized, extending its impact beyond simple insertional mutagenesis.

cancer biology↗