A5007915090- Forensic and Genetic Research
- Genetic diversity and population structure
- Genetic Associations and Epidemiology
- Cancer-related Molecular Pathways
- Genetic and phenotypic traits in livestock
- CRISPR and Genetic Engineering
- Molecular Biology Techniques and Applications
- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- PARP inhibition in cancer therapy
- Genetics and Physical Performance
- Cardiovascular Effects of Exercise
- Genomic variations and chromosomal abnormalities
- Muscle metabolism and nutrition
- Pluripotent Stem Cells Research
- HIV/AIDS drug development and treatment
- RNA regulation and disease
- Genetics, Aging, and Longevity in Model Organisms
- Genetic Mapping and Diversity in Plants and Animals
Barcelona Institute for Science and Technology
2022-2023
Institute for Research in Biomedicine
2021-2023
Universitat de Barcelona
2016-2021
Institut de Biologia Evolutiva
2017-2021
Institut de Recerca de la Biodiversitat de la Universitat de Barcelona
2016
Abstract CRISPR/Cas9 gene editing can inactivate genes in a precise manner. This process involves DNA double-strand breaks (DSB), which may incur loss of cell fitness. We hypothesize that DSB toxicity be variable depending on the chromatin environment targeted locus. Here, by analyzing isogenic line pair CRISPR experiments jointly with previous screening data from across ~900 lines, we show TP 53 -associated break is higher genomic regions harbor active chromatin, such as regulatory elements...
Analysis of cancer mutagenic signatures provides information about the origin mutations and can inform use clinical therapies, including immunotherapy. In particular, APOBEC3A (A3A) has emerged as a major driver mutagenesis in cells, its expression results DNA damage susceptibility to treatment with inhibitors ATR CHK1 checkpoint kinases. Here, we report implementation CRISPR/Cas-9 genetic screening identify susceptibilities multiple A3A-expressing lung adenocarcinoma (LUAD) cell lines. We...
Abstract Background TP53 is a master tumor suppressor gene, mutated in approximately half of all human cancers. Given the many regulatory roles corresponding p53 protein, it possible to infer loss activity – which may occur due alterations trans from gene expression patterns. Several such that phenocopy are known, however additional ones exist, but their identity and prevalence among tumors not well characterized. Results We perform large-scale statistical analysis on transcriptomes ~ 7,000...
The genetic variation of the European population at a macro-geographic scale follows gradients which reflect main migration events. However, less is known about factors affecting mating patterns micro-geographic scale. In this study we have analyzed 726,718 autosomal single nucleotide variants in 435 individuals from catalan Pyrenees covering around 200 km vast and abrupt region north Iberian Peninsula, for information geographic origin all grand-parents parents. At scale, our analyses...
Background: Tandem repeats (STRs) are genomic markers of particular interest in forensic and population genetics. Most the data currently available correspond to variation STRs panels, which barely include dinucleotide tandem repeats.Aims: The aim study is test usefulness a battery on X chromosome for studies.Subjects methods: A total 672 individuals from 12 Mediterranean populations two external references were analysed 15 X-STR following instructions commercial company using control DNA...
A common missense mutation (1470T > A) in gene SLC16A1 responsible for an amino acid substitution protein MCT1 has been associated with differential lactate transport and hence, differences physical performance muscle injuries relation to exercise. This study describes, the first time, worldwide variation of variant 1470T at intra- inter-continental level. Two thousand five hundred four individual genotypes 26 populations clustered 5 population groups have analysed data downloaded from...
The area of the Spanish Pyrenees is particularly interesting for studying demographic dynamics European rural areas given its orography, main traditional condition population and reported higher patterns consanguinity region. Previous genetic studies suggest a gradient continuity in West to East axis. However, it has been shown that micro-population substructure can be detected when considering high-quality NGS data using spatial explicit methods. In this work, we have analyzed genome 30...
Objectives The aim of this study is to determine whether the LIN28B gene differentially distributed in Mediterranean region through analysis allele distribution three single nucleotide polymorphisms (SNPs), namely rs7759938, rs314277, and rs221639, 24 populations. These SNPs have been recently related age at menarche, pubertal height growth, peripubertal body mass index, levels prenatal testosterone exposure, cancer survival. Methods A total 1,197 DNA samples were genotyped. frequencies used...
Abstract The Sephardim are a major Jewish ethnic division whose origins can be traced back to the Iberian Peninsula. We used genome-wide SNP data investigate degree of Sephardic admixture in seven populations from Peninsula and surrounding regions aftermath their religious persecution starting late 14 th century. To this end, we Eastern Mediterranean (from South Italy, Greece Israel) North African (Tunisian Moroccan) as proxies for ancestral components found target carried out unlinked-...
Abstract TP53 is a master tumor suppressor gene, mutated in approximately half of all human cancers. Given the many regulatory roles corresponding p53 protein, it possible to infer loss activity -- which may occur from trans-acting alterations gene expression patterns. We apply this approach transcriptomes ~8,000 tumors and ~1,000 cell lines, estimating that 12% 8% cancer lines phenocopy loss: they are likely deficient pathway, while not bearing obvious inactivating mutations. While some...
Abstract Analysis of cancer mutagenic signatures provides information about the origin mutations and can inform use clinical therapies, including immunotherapy. In particular, APOBEC3A (A3A) has emerged as a major driver mutagenesis in cells its expression results DNA damage susceptibility to treatment with inhibitors ATR CHK1 checkpoint kinases. Here we report implementation CRISPR/Cas9 genetic screening identify susceptibilities multiple A3A-expressing lung adenocarcinoma cell lines. We...
Abstract The genetic variation of the European population at a macro-geographic scale follows gradients which reflect main migration events. However, less is known about factors affecting mating choices micro-geographic scale. In this study we have analyzed 726,718 autosomal SNPs in 435 individuals from Catalan Pyrenees covering around 200 km vast and abrupt region north Iberian Peninsula, for information geographic origin all grand-parents parents. At scale, our analyses recapitulate...