genomics

A technique developed under the coordination of researchers from the Centre for Genomic Regulation (CRG) and the Institute for Biomedical Research (IRB) in Barcelona has made it possible to track methylation patterns or “barcodes” in blood cells and construct their epigenetic family tree. This has enabled them to trace their evolution and changes with age, which could be useful for disease prevention and for the study or even development of specific therapies against ageing. The results are published in the journal Nature.

A research team has managed to ‘rejuvenate’ embryonic stem cells from mice to give them greater differentiation potential, according to an article published in the EMBO Journal. Changing the type of sugar these cells use to grow modifies their metabolism and, according to the researchers, could improve their therapeutic potential or their use in in vitro fertilisation treatments.  

A team of researchers has analyzed more than 300 human genomes from the last 50,000 years and has concluded that most of the gene flow we received from Neanderthals is attributable to a single period, which probably occurred between 50,500 and 43,500 years ago. In addition, Neanderthal inheritance underwent rapid natural selection in subsequent generations, especially on the X chromosome, according to a study published in Science.

A team of researchers at the Centre for Genomic Regulation in Barcelona (CRG) has found that a region of the genome is less active in model mice and people with Down's syndrome. This region is found in the so-called dark genome and does not code for a protein. According to the authors of the study, this "leads to reduced neurogenesis and impaired plasticity, which play a direct role in learning and memory". The results are published in the journal Molecular Psychiatry.

A team of researchers led by the Max Planck Institute for Evolutionary Anthropology in Germany has analysed nearly 10,000 ancient genomes and found six cases of people with Down's syndrome and one with Edwards' syndrome. Most of them died before or shortly after birth. The findings correspond to different periods up to 5,500 years old and several of them have been found in Navarra. According to the authors, "the care with which the burials were carried out and the objects found with these individuals indicate that ancient societies probably treated people with trisomies 18 and 21 as members of their communities". The findings are published in Nature Communications.

A Chinese research team has reported the birth of a crab-eating macaque that is a chimera: an animal generated from the mixing of embryonic cells from two different individuals; in this case, from the same species, according to the journal Cell. Until now, this type of chimera had only been developed with rodents. This is the first time it has been achieved in non-human primates.

A team of researchers has managed to combine more than seven synthetic chromosomes made in the laboratory in a single yeast cell. This involves developing for the first time a eukaryotic cell with more than 50% synthetic DNA, which survives and replicates in a similar way to wild yeast strains. The results, which are part of the Synthetic Yeast Genome Project (Sc2.0), are published in the journal Cell.

A US research team has identified several genes that may be associated with a strict vegetarian diet. Some of these genes have "important roles in lipid metabolism and brain function", according to the paper, which suggests that these differences could explain the ability to subsist on a vegetarian diet in those who carry these genes. The study, published in the journal PLoS ONE, used data from the UK Biobank to compare a group of more than 5,000 vegetarians with a group of more than 320,000 non-vegetarians.

A team of scientists led by the Catholic University of America in Washington has designed new artificial vectors based on viruses to improve gene therapy processes. The main novelty is that they are constructed from viruses that infect bacteria. Among other advantages, this would make it possible to avoid the possible memory of our defences against them and have a greater capacity. According to the authors, who publish their results in the journal Nature Communications, these nanoparticles "have the potential to transform gene therapies and personalised medicine".

In a series of three articles and a companion article - collected in Nature Biotechonology - Nature publishes the first draft of the human pangenome reference, which contains highly detailed data from 47 genetically diverse individuals. The first human genome was published more than two decades ago but, being from a single person, it does not represent human diversity, whereas the pangenome refers to the gene pool of our entire species. The ultimate goal of the Human Pangenome Reference Consortium project is to include genetic material from 350 people by 2024. It is hoped that this data will allow more clinically relevant genetic variants to be identified.