genetics

In humans, larger birth canals are associated with slower labour and less back pain, but a higher risk of osteoarthritis of the hip, while narrower birth canals are associated with a lower risk of pelvic floor disorders, but a higher risk of obstructed labour, according to one study. The analysis published in Science is based on genetic and clinical data and bone densitometry images from more than 31,000 people in the UK Biobank to identify 180 genetic positions associated with seven ‘highly heritable’ pelvic characteristics.

Genome analysis of 11,555 individuals revealed 60 genes involved in congenital heart disease, according to a study published today in the journal PNAS. Congenital heart disease is one of the most common birth defects and affects between 1 and 1.8% of live births.

Colossal Biosciences has announced the creation of genetically modified mice with characteristics reminiscent of the fur of extinct mammoths, such as fur colour, texture and thickness. The non-peer-reviewed results were shared today in the BioRXiv prepublication repository.

An international team has analyzed data from nearly half a million people to analyze the influence of genes or environment on mortality, age-related diseases and aging. Although the relationship may vary according to the type of disease, their conclusions are that the environment -especially socioeconomic conditions, smoking habits and physical exercise- has a much greater influence than genetics in all the aspects studied. Among other data, environment explains 17 % of the variation in mortality risk, while genetics is limited to 2 %. The results are published in the journal Nature Medicine. 

A meta-analysis that brings together data from 628 species of animals, plants and other organisms in terrestrial and marine ecosystems over the last three decades shows that most are losing genetic diversity, especially mammals and birds. ‘The threats affected two thirds of the populations we analysed and less than half are subject to conservation management measures,’ say the authors of the research, published in Nature.

A team of researchers has used embryonic stem cell engineering to create a bipaternal mouse - a mouse with two male parents - that lived to adulthood. Their results, published in the journal Cell Stem Cell, show how targeting a particular set of genes involved in reproduction enabled this breakthrough in unisexual reproduction in mammals.

Adipose tissue retains a ‘memory’ of obesity through cellular transcriptional and epigenetic changes that persist after weight loss, which may increase the likelihood of regaining weight, experiments in human and mouse cells show. The findings, published in Nature, could help explain the problematic ‘yo-yo effect’, the rapid weight rebound often seen with dieting. 

A team of researchers led by the Center for Genomic Regulation in Barcelona has mapped the human spliceosome for the first time. This complex and partially unknown cellular machinery is responsible for cutting and splicing the RNA fragments encoded by genes in different ways, making it possible to obtain a wide variety of proteins from the same sequence. Its alteration is related to processes such as cancer, neurodegenerative processes or various rare diseases. According to the researchers, who publish the results in the journal Science, “by knowing exactly what each part does, we can find completely new angles to address a broad spectrum of diseases”.

Early results from a study of newborn screening methods show that DNA analysis detects many more serious preventable or treatable diseases than standard newborn screening. The study, published today in the journal JAMA, is one of the first large-scale studies in the world to use genome sequencing as a method of newborn screening and is the first to publish preliminary results. 

The Karolinska Institute has awarded the Nobel Prize in Medicine or Physiology to Victor Ambros and Gary Ruvkun for the discovery of microRNAs, small RNA fragments that do not contain instructions for making proteins but instead participate in the regulation of gene expression. Their role is fundamental in processes such as cell differentiation, and their alteration can influence diseases like cancer.