Genomes and Genes
Martin S Taylor
Affiliation: University of Oxford
- Sushi gets serious: the draft genome sequence of the pufferfish Fugu rubripesMartin S Taylor
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Genome Biol 3:reviews1025. 2002..The publication of the Fugu rubripes draft genome sequence will take this fish from culinary delicacy to potent tool in deciphering the mysteries of human genome function...
- Evolutionary constraints on the Disrupted in Schizophrenia locusMartin S Taylor
Medical Genetics Section, Molecular Medicine Centre, University of Edinburgh, Crewe Road, Edinburgh EH4 2XU, UK
Genomics 81:67-77. 2003..The amino acid sequence of DISC1 is diverging rapidly, although a putative nuclear localization signal and discrete blocks of coiled coil are specifically conserved features...
- Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomesMartin S Taylor
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK
Genome Res 14:555-66. 2004..There is a specific enrichment of CpG dinucleotides in close proximity to insertion events, and both insertions and deletions are more common in higher G+C content sequences...
- Dynamic and physical clustering of gene expression during epidermal barrier formation in differentiating keratinocytesJennifer M Taylor
Wellcome Trust Centre for Human Genetics, Oxford, England
PLoS ONE 4:e7651. 2009..The findings provide a reference for subsequent understanding of how the barrier functions in health and disease...
- Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsJoe Rainger
Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, Edinburgh EH4 2XU, UK
Am J Hum Genet 94:915-23. 2014..The phenotype associated with the homozygous mutation might be a consequence of complete loss of MAB21L2 RNA binding, although the cellular function of this interaction remains unknown. ..
- Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complexClaire Vandiedonck
Wellcome Trust Centre for Human Genetics, Oxford University, Oxford, UK
Genome Res 21:1042-54. 2011....
- Heterotachy in mammalian promoter evolutionMartin S Taylor
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
PLoS Genet 2:e30. 2006....
- A high-resolution single nucleotide polymorphism genetic map of the mouse genomeSagiv Shifman
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
PLoS Biol 4:e395. 2006..Genetic maps are available from http://gscan.well.ox.ac.uk/#genetic_map and as supporting information to this publication...
- Singleton SNPs in the human genome and implications for genome-wide association studiesXiayi Ke
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
Eur J Hum Genet 16:506-15. 2008....
- Identification of common genetic variation that modulates alternative splicingJeremy Hull
University Department of Paediatrics, John Radcliffe Hospital, Oxford, United Kingdom
PLoS Genet 3:e99. 2007..Our findings suggest that phenotypic variation in splicing patterns is determined by the presence of SNPs within flanking introns or exons. Effects on splicing may represent an important mechanism by which SNPs influence gene function...
- Quantifying single nucleotide variant detection sensitivity in exome sequencingAlison M Meynert
MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, UK
BMC Bioinformatics 14:195. 2013..To fully interpret the polymorphisms identified in a genetic study it is often essential to both detect polymorphisms and to understand where and with what probability real polymorphisms may have been missed...
- Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsKathleen A Williamson
Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK
Am J Hum Genet 94:295-302. 2014..1066G>T mutation in family 132 should result in NMD in transcripts from either TSS. Amelioration of the phenotype by the alternative transcripts provides a plausible explanation for the phenotypic differences between the families...
- Genetic analysis of pathways regulated by the von Hippel-Lindau tumor suppressor in Caenorhabditis elegansTammie Bishop
The Henry Wellcome Building of Genomic Medicine, University of Oxford, Oxford, United Kingdom
PLoS Biol 2:e289. 2004....
- The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermisIan Smyth
Medical Research Council Human Genetics Unit, Crewe Road, Edinburgh EH4 2XU, Scotland, United Kingdom
Proc Natl Acad Sci U S A 101:13560-5. 2004....
- Genome-wide genetic association of complex traits in heterogeneous stock miceWilliam Valdar
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
Nat Genet 38:879-87. 2006..Our data set, freely available at http://gscan.well.ox.ac.uk, provides an entry point to the functional characterization of genes involved in many complex traits...
- Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari
MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK
J Med Genet 51:659-68. 2014..Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS...
- Variant detection sensitivity and biases in whole genome and exome sequencingAlison M Meynert
MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, EH4 2XU Edinburgh, UK
BMC Bioinformatics 15:247. 2014..We set out to quantify and understand how WGS compares with the targeted capture and sequencing of the exome (exome-seq), for the specific purpose of identifying single nucleotide polymorphisms (SNPs) in exome targeted regions...
- Lagging-strand replication shapes the mutational landscape of the genomeMartin A M Reijns
Medical and Developmental Genetics, MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK
Nature 518:502-6. 2015..We observe a mutational cost to chromatin and regulatory protein binding, resulting in mutation hotspots at regulatory elements, with signatures of this process detectable in both yeast and humans. ..
- Sequence characterization of teleost fish melanocortin receptorsDarren W Logan
MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, United Kingdom
Ann N Y Acad Sci 994:319-30. 2003..We have confirmed the sequences of these 10 genes and show the comparison of the amino acid sequences of the encoded proteins with the orthologous receptor in other vertebrates...
- Interaction of the anaphase-promoting complex/cyclosome and proteasome protein complexes with multiubiquitin chain-binding proteinsMichael Seeger
Medical Research Council Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, United Kingdom
J Biol Chem 278:16791-6. 2003..The putative role of Pus1 as a factor involved in allocation of ubiquitinylated substrates for the proteasome is discussed...
- Genome sequence of the Brown Norway rat yields insights into mammalian evolutionRichard A Gibbs
Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, MS BCM226, One Baylor Plaza, Houston, Texas 77030, USA lt http www hgsc bcm tmc edu
Nature 428:493-521. 2004....
- Genome-wide analysis of mammalian promoter architecture and evolutionPiero Carninci
Genome Exploration Research Group, RIKEN Genomic Sciences Center, RIKEN Yokohama Institute, 1 7 22 Suehiro cho, Tsurumi ku, Yokohama, Kanagawa, 230 0045, Japan
Nat Genet 38:626-35. 2006..These data permit genome-scale identification of tissue-specific promoters and analysis of the cis-acting elements associated with them...
- Genomic anatomy of the Tyrp1 (brown) deletion complexIan M Smyth
Medical Research Council Human Genetics Unit, Edinburgh EH4 2XU, United Kingdom
Proc Natl Acad Sci U S A 103:3704-9. 2006..This study provides a molecular insight into the basis of several characterized mouse mutants, which will allow further dissection of this region by targeted or chemical mutagenesis...
- The structure and evolution of the melanocortin and MCH receptors in fish and mammalsDarren W Logan
MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU, UK
Genomics 81:184-91. 2003..Unlike other species, we find the Fugu genes contain introns, one of which is in a conserved location and is probably ancestral. We also detail the differential expression of the zebrafish genes throughout development...