Mutations that drive accelerated ageing in prototypical progeria syndromes in humans point to an important role for genome maintenance and stability. Together, these different strands of genetic research are highlighting pathways for the discovery of anti-ageing interventions that may be applicable in ...
Genetic mutations occur throughout the body. However, as we age they become more prolific. This can affect our fertility. Once women reach their mid-30s fertility rapidly declines. By the age of 40 the chances of natural conception are significantly decreased. Women have a limited supply of eg...
Autism spectrum disorder (ASD) is more prevalent in males, and the mechanisms behind this sex-differential risk are not fully understood. Two competing, but not mutually exclusive, hypotheses are that ASD risk genes are sex-differentially regulated, or a
thus explaining the relatively high genetic diversity in Europe compared to Africa and Asia. There were three ways in which maize diseases were spread in the novel regions. First, some diseases, such as smut, must have been introduced with the first shipments ...
H. et al. Genetic basis of total colourblindness among the Pingelapese islanders. Nature Genet. 25, 289–293 (2000). Article CAS PubMed Google Scholar Kohl, S. et al. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for...
Atlas cell types are derived from two genetic backgrounds that were highly replicable between each other and published reference datasets, but DamID in single cells could be used in the future to define potential small-scale LB1 differences in polymorphic regions, which occur below the resolution of...
Alternative splicing of pre-mRNAs provides an additional mechanism whereby genetic variation can create functional diversity across human genomes. Rare mutations and common variants that influence pre-mRNA splicing have been linked to a broad range of human diseases [15,16,17]. The effects of genetic...
Taken together, gene transfer mediated by HDAdVs is a powerful technology for genetic manipulation in hES and hiPS, both for biological studies and therapeutic applications. Herein, to trace the differentiation and analyze human ES or iPS cell-derived hepatocytes, we carried out gene targeting of ...
view of islet transcriptional signatures should inform these analyses, although the limited sample size of current studies26,27,28,29,30and the paucity of genotype information means they offer little direct insight into the relationship between genetic variation and cell-type-specific transcript ...
Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels acr...