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Coordinates: 51°45′36″N1°15′14″W / 51.760°N 1.254°W
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The Oxford Centre for Gene Function is a multidisciplinary research institute in the University of Oxford, England. It is directed by Frances Ashcroft, Kay Davies and Peter Donnelly.
It involves the departments of Human anatomy and genetics, Physiology, and Statistics.
Coordinates: 51°45′36″N1°15′14″W / 51.760°N 1.254°W
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An allele is one of two, or more, forms of a given gene variant. For example, the ABO blood grouping is controlled by the ABO gene, which has six common alleles. Nearly every living human's phenotype for the ABO gene is some combination of just these six alleles. An allele is one of two, or more, versions of the same gene at the same place on a chromosome. It can also refer to different sequence variations for several-hundred base-pair or more region of the genome that codes for a protein. Alleles can come in different extremes of size. At the lowest possible size an allele can be a single nucleotide polymorphism (SNP). At the higher end, it can be up to several thousand base-pairs long. Most alleles result in little or no observable change in the function of the protein the gene codes for.
Genetics is a branch of biology concerned with the study of genes, genetic variation, and heredity in organisms.
In biology, a mutation is an alteration in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA, which then may undergo error-prone repair, cause an error during other forms of repair, or cause an error during replication. Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements.
Non-coding DNA sequences are components of an organism's DNA that do not encode protein sequences. Some non-coding DNA is transcribed into functional non-coding RNA molecules. Other functions of non-coding DNA include the transcriptional and translational regulation of protein-coding sequences, scaffold attachment regions, origins of DNA replication, centromeres and telomeres. Its RNA counterpart is non-coding RNA.
Pseudogenes are nonfunctional segments of DNA that resemble functional genes. Most arise as superfluous copies of functional genes, either directly by DNA duplication or indirectly by reverse transcription of an mRNA transcript. Pseudogenes are usually identified when genome sequence analysis finds gene-like sequences that lack regulatory sequences needed for transcription or translation, or whose coding sequences are obviously defective due to frameshifts or premature stop codons.
Molecular genetics is a sub-field of biology that addresses how differences in the structures or expression of DNA molecules manifests as variation among organisms. Molecular genetics often applies an "investigative approach" to determine the structure and/or function of genes in an organism's genome using genetic screens. The field of study is based on the merging of several sub-fields in biology: classical Mendelian inheritance, cellular biology, molecular biology, biochemistry, and biotechnology. Researchers search for mutations in a gene or induce mutations in a gene to link a gene sequence to a specific phenotype. Molecular genetics is a powerful methodology for linking mutations to genetic conditions that may aid the search for treatments/cures for various genetics diseases.
Gene duplication is a major mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene. Gene duplications can arise as products of several types of errors in DNA replication and repair machinery as well as through fortuitous capture by selfish genetic elements. Common sources of gene duplications include ectopic recombination, retrotransposition event, aneuploidy, polyploidy, and replication slippage.
In biology, a gene is a basic unit of heredity and a sequence of nucleotides in DNA or RNA that encodes the synthesis of a gene product, either RNA or protein.
Vasopressin receptor 2 (V2R), or arginine vasopressin receptor 2, is a protein that acts as receptor for vasopressin. AVPR2 belongs to the subfamily of G-protein-coupled receptors. Its activity is mediated by the Gs type of G proteins, which stimulate adenylate cyclase.
Dame Kay Elizabeth Davies is a British geneticist. She is Dr Lee's Professor of Anatomy at the University of Oxford and a Fellow of Hertford College, Oxford. She is director of the Medical Research Council (MRC) functional genetics unit, a governor of the Wellcome Trust, a director of the Oxford Centre for Gene Function, and a patron and Senior Member of Oxford University Scientific Society. Her research group has an international reputation for work on Duchenne muscular dystrophy (DMD). In the 1980s, she developed a test which allowed for the screening of foetuses whose mothers have a high risk of carrying DMD.
Hexosaminidase A , also known as HEXA, is an enzyme that in humans is encoded by the HEXA gene, located on the 15th chromosome.
Taste receptor type 2 member 3 is a protein that in humans is encoded by the TAS2R3 gene.
Homeobox protein Hox-A13 is a protein that in humans is encoded by the HOXA13 gene.
Homeobox protein Hox-D3 is a protein that in humans is encoded by the HOXD3 gene.
Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.
Centromere protein J is a protein that in humans is encoded by the CENPJ gene. It is also known as centrosomal P4.1-associated protein (CPAP). During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein.
Cat genetics describes the study of inheritance as it occurs in domestic cats. In feline husbandry it can predict established traits (phenotypes) of the offspring of particular crosses. In medical genetics, cat models are occasionally used to discover the function of homologous human disease genes.
AT-rich interactive domain-containing protein 2 (ARID2) is a protein that in humans is encoded by the ARID2 gene.
The Sir William Dunn School of Pathology is a Department within the University of Oxford. Its research programme includes the cellular and molecular biology of pathogens, the immune response, cancer and cardiovascular disease. It teaches undergraduate and graduate courses in the medical sciences.
The Wellcome Centre for Human Genetics is a human genetics research centre of the Nuffield Department of Medicine in the Medical Sciences Division, University of Oxford, funded by the Wellcome Trust among others.