Frigola Rissech, Joan (Date of defense: 2020-03-13)
The rate at which mutations accumulate along the genome is not uniform but influenced by factors such as chromatin compactness, replication time or transcription. Most of these factors create mutational ...
Le Pannérer, Marguerite-Marie (Date of defense: 2022-01-21)
The relevance of epigenetics is increasingly recognized in haematopoietic diseases such as myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML). Variants of histones, such as macroH2As, and ...
Hoermann, Astrid (Date of defense: 2014-11-14)
Esta tesis revela la regulación transcripcional del gen gap giant (gt) en el embrión blastodermal de Drosophila por ingeniería inversa: un modelo matemático infiere los mecanismos subyacentes de datos ...
Rein, Katrin (Date of defense: 2015-03-23)
The maintenance of genome stability is crucial for homeostasis, development and suppression of diverse pathologies that include developmental disorders, premature aging and cancer. The DNA damage response ...
Garrido Martín, Diego (Date of defense: 2020-01-30)
We have developed an efficient and reproducible pipeline for the identification of genetic variants affecting splicing (splicing quantitative trait loci or sQTLs), based on an approach that captures the ...
Bello, Carla (Date of defense: 2017-12-15)
La identificación de elementos funcionales en el genoma no-codificante continúa siendo una tarea desafiante. La genómica comparativa puede ayudarnos a entender como estos elementos han evolucionado y ...
Söylemez, Onuralp (Date of defense: 2015-10-09)
The role of epistasis – inter-dependent contributions of alleles to fitness – in shaping genetic variation within and between populations is an important question in evolutionary biology with significant ...
Abaza, Irina (Date of defense: 2006-11-03)
Dosage compensation is a mechanism that equalizes the expression of X-linked genes in those organisms in which males and females differ in the number of X chromosomes. In Drosophila melanogaster, dosage ...
Pant, Devesh Chandra (Date of defense: 2018-10-05)
In spite of recent advances in understanding the genetic bases of leukodystrophies, a large number of clinical cases remain unexplained, suggesting that many leukodystrophy-associated genes have yet to ...
Fontseré Alemany, Clàudia (Date of defense: 2020-12-17)
Wild chimpanzee populations are considered to be under threat of extinction due to the damaging consequences of human impact into their natural habitat and illegal trade. Conservation genomics is an ...