Chris P. Ponting
A5021151726- Genomics and Phylogenetic Studies
- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- Cancer-related molecular mechanisms research
- RNA modifications and cancer
- Genomics and Chromatin Dynamics
- Chromosomal and Genetic Variations
- Single-cell and spatial transcriptomics
- Machine Learning in Bioinformatics
- Epigenetics and DNA Methylation
- Ubiquitin and proteasome pathways
- CRISPR and Genetic Engineering
- Genomic variations and chromosomal abnormalities
- Genetic diversity and population structure
- Congenital heart defects research
- Genetics, Bioinformatics, and Biomedical Research
- interferon and immune responses
- Glycosylation and Glycoproteins Research
- Genomics and Rare Diseases
- RNA regulation and disease
- Mitochondrial Function and Pathology
- DNA Repair Mechanisms
- Microtubule and mitosis dynamics
- Cellular transport and secretion
- Genetic Mapping and Diversity in Plants and Animals
Institute of Genetics and Cancer
2016-2025
University of Edinburgh
2016-2025
Medical Research Council
2014-2024
Western General Hospital
2016-2024
University of Oxford
2011-2022
Genomics (United Kingdom)
2011-2022
Child Trends
2016-2022
Wellcome Sanger Institute
2012-2020
University of Nottingham
2020
ORCID
2019
Accurate multiple alignments of 86 domains that occur in signaling proteins have been constructed and used to provide a Web-based tool (SMART: simple modular architecture research tool) allows rapid identification annotation domain sequences. The majority are multidomain character with considerable variety combinations known. Comparison established databases showed 25% our set could not be deduced from SwissProt 41% annotated by Pfam. SMART is able determine the architectures single...
We report genome sequences of 17 inbred strains laboratory mice and identify almost ten times more variants than previously known. use these genomes to explore the phylogenetic history mouse examine functional consequences allele-specific variation on transcript abundance, revealing that at least 12% transcripts show a significant tissue-specific expression bias. By identifying candidate 718 quantitative trait loci we molecular nature their position relative genes vary according effect size...
The recent advent of methods for high-throughput single-cell molecular profiling has catalyzed a growing sense in the scientific community that time is ripe to complete 150-year-old effort identify all cell types human body. Human Cell Atlas Project an international collaborative aims define terms distinctive profiles (such as gene expression profiles) and connect this information with classical cellular descriptions location morphology). An open comprehensive reference map state cells...
Variants in the FTO (fat mass and obesity associated) gene are associated with increased body index humans. Here, we show by bioinformatics analysis that shares sequence motifs Fe(II)- 2-oxoglutarate–dependent oxygenases. We find recombinant murine Fto catalyzes 2OG-dependent demethylation of 3-methylthymine single-stranded DNA, concomitant production succinate, formaldehyde, carbon dioxide. Consistent a potential role nucleic acid demethylation, localizes to nucleus transfected cells....
Host-mediated lung inflammation is present1, and drives mortality2, in the critical illness caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with may identify mechanistic targets for therapeutic development3. Here we report results of GenOMICC (Genetics Of Mortality In Critical Care) genome-wide association study 2,244 critically ill patients COVID-19 from 208 UK intensive care units. We have identified replicated following new significant associations: on...
SMART (Simple Modular Architecture Research Tool) is a web tool (http://smart.embl.de/) for the identification and annotation of protein domains, provides platform comparative study complex domain architectures in genes proteins. The January 2004 release contains 685 domains. New developments are centred on integration data from completed metazoan genomes. now uses predicted proteins complete genomes its source sequence databases, integrates these with predictions orthology. visualization...
Cichlid fishes are famous for large, diverse and replicated adaptive radiations in the Great Lakes of East Africa. To understand molecular mechanisms underlying cichlid phenotypic diversity, we sequenced genomes transcriptomes five lineages African cichlids: Nile tilapia (Oreochromis niloticus), an ancestral lineage with low diversity; four members lineage: Neolamprologus brichardi/pulcher (older radiation, Lake Tanganyika), Metriaclima zebra (recent Malawi), Pundamilia nyererei (very recent...
Here, we present a simple and highly efficient method for generating detecting mutations of any gene in Drosophila melanogaster through the use CRISPR/Cas9 system (clustered regularly interspaced palindromic repeats/CRISPR-associated). We show that injection RNA into embryo can induce mutagenesis desired target genes up to 88% injected flies. These be transmitted germline make stable lines. Our provides at least 10-fold improvement efficiency over previously published reports, enabling wider...
Initially thought to play a restricted role in calcium homeostasis, the pleiotropic actions of vitamin D biology and their clinical significance are only now becoming apparent. However, mode action D, through its cognate nuclear receptor (VDR), contribution diverse disorders, remain poorly understood. We determined VDR binding throughout human genome using chromatin immunoprecipitation followed by massively parallel DNA sequencing (ChIP-seq). After calcitriol stimulation, we identified 2776...
The genome of the zebra finch — a songbird and model for study vertebrate brain, behaviour evolution has been sequenced. Its comparison with chicken genome, only other bird available, shows that genes neural function implicated in cognitive processing song have rapidly evolving lineage. also vocal communication engages much brain transcriptome identifies potential integrator microRNA signals linked to communication. studying Comparison are Moreover, brain. is an important organism several...
Gorillas are humans' closest living relatives after chimpanzees, and of comparable importance for the study human origins evolution. Here we present assembly analysis a genome sequence western lowland gorilla, compare whole genomes all extant great ape genera. We propose synthesis genetic fossil evidence consistent with placing human–chimpanzee human–chimpanzee–gorilla speciation events at approximately 6 10 million years ago. In 30% genome, gorilla is closer to or chimpanzee than latter...
We present a draft genome sequence of the platypus, Ornithorhynchus anatinus. This monotreme exhibits fascinating combination reptilian and mammalian characters. For example, platypuses have coat fur adapted to an aquatic lifestyle; platypus females lactate, yet lay eggs; males are equipped with venom similar that reptiles. Analysis first aligned these features genetic innovations. find reptile proteins been co-opted independently from same gene families; milk protein genes conserved despite...
Long transcripts that do not encode protein have only rarely been the subject of experimental scrutiny. Presumably, this is owing to current lack evidence their functionality, thereby leaving an impression that, instead, they represent “transcriptional noise.” Here, we describe analysis 3122 long and full-length, noncoding RNAs (“macroRNAs”) from mouse, compare sequences promoters with orthologous sequence human rat. We considered three independent signatures purifying selection related...
The discovery of a living coelacanth specimen in 1938 was remarkable, as this lineage lobe-finned fish thought to have become extinct 70 million years ago. modern looks remarkably similar many its ancient relatives, and evolutionary proximity our own ancestors provides glimpse the that first walked on land. Here we report genome sequence African coelacanth, Latimeria chalumnae. Through phylogenomic analysis, conclude lungfish, not is closest relative tetrapods. Coelacanth protein-coding...
The evolution of the amniotic egg was one great evolutionary innovations in history life, freeing vertebrates from an obligatory connection to water and thus permitting conquest terrestrial environments. Among amniotes, genome sequences are available for mammals birds, but not non-avian reptiles. Here we report sequence North American green anole lizard, Anolis carolinensis. We find that A. carolinensis microchromosomes highly syntenic with chicken microchromosomes, yet do exhibit high GC...