Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1

The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline tissues. Intergenerational differences usually reveal an increase in allele length, concordant with the clinical anticipation characteristic of DM1, but there have also been cases with intergenerational contractions of the repeat length, accompanied by apparent anticipation. In order to gain a better understanding of this intergenerational behaviour, we have obtained semen samples from six DM males and used single molecule analyses to compare the allele distributions present in their sperm and blood with those of their offspring. We have confirmed that the male germline mutational pathway is distinct from that of the soma, but the extent of variation is highly variable from one individual to another and not obviously correlated with progenitor allele length. Nonetheless, in all cases the alleles present in the father's sperm overlap with those observed in their offspring. These data also provide further indications that the interpretation of intergenerational transmissions by standard analyses is frequently compromised by the masking of germline differences by age-dependent somatic expansion in the parent

Barcelona Supercomputing Center: Science accelerator and producer of innovation

Supercomputing has become an accelerator; its use is now essential in almost all scientific disciplines. Established a little more than ten years ago, the Barcelona Supercomputing Center (BSC) provides computing services for the European scientific community, carries out in-depth research in different fields, collaborates with multiple research centers and develops technologies for different sectors of society. Based on its capabilities and the skills of the responsible team, the BSC is planning to enlarge both its facilities and its penetration into the scientific and industrial communities as one of the most powerful tools to develop complex research

Híbrids postmoderns

Peer Reviewe

Miloon Kothari: el derecho a la vivienda

Peer Reviewe

Un pla per defensar el dret a l'habitatge

Postprint (author's final draft

Fragmented condensation in Bose-Hubbard trimers with tunable tunnelling

We consider a Bose-Hubbard trimer, i.e. an ultracold Bose gas populating three quantum states. The latter can be either different sites of a triple-well potential or three internal states of the atoms. The bosons can tunnel between different states with variable tunnelling strength between two of them. This will allow us to study; i) different geometrical configurations, i.e. from a closed triangle to three aligned wells and ii) a triangular configuration with a $\pi$-phase, i.e. by setting one of the tunnellings negative. By solving the corresponding three-site Bose-Hubbard Hamiltonian we obtain the ground state of the system as a function of the trap topology. We characterise the different ground states by means of the coherence and entanglement properties. For small repulsive interactions, fragmented condensates are found for the $\pi$-phase case. These are found to be robust against small variations of the tunnelling in the small interaction regime. A low-energy effective many-body Hamiltonian restricted to the degenerate manifold provides a compelling description of the $\pi$-phase degeneration and explains the low-energy spectrum as excitations of discrete semifluxon states