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The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of regulatory RNAs. It also includes promoters and their associated gene-regulatory elements, DNA playing structural and replicatory roles, such as scaffolding regions, telomeres, centromeres, and origins of replication, plus large numbers of transposable elements, inserted viral DNA, non-functional pseudogenes and simple, highly-repetitive sequences. Introns make up a large percentage of non-coding DNA. Some of this non-coding DNA is non-functional junk DNA, such as pseudogenes, but there is no firm consensus on the total amount of junk DNA.
In biology, epigenetics is the study of stable phenotypic changes that do not involve alterations in the DNA sequence. The Greek prefix epi- in epigenetics implies features that are "on top of" or "in addition to" the traditional genetic basis for inheritance. Epigenetics most often involves changes that affect the regulation of gene expression, but the term can also be used to describe any heritable phenotypic change. Such effects on cellular and physiological phenotypic traits may result from external or environmental factors, or be part of normal development.
In biochemistry, the DNA methyltransferase family of enzymes catalyze the transfer of a methyl group to DNA. DNA methylation serves a wide variety of biological functions. All the known DNA methyltransferases use S-adenosyl methionine (SAM) as the methyl donor.
Sir Adrian Peter Bird, is a British geneticist and Buchanan Professor of Genetics at the University of Edinburgh. Bird has spent much of his academic career in Edinburgh, from receiving his PhD in 1970 to working at the MRC Mammalian Genome Unit and later serving as director of the Wellcome Trust Centre for Cell Biology. His research focuses on understanding DNA methylation and CpG islands, and their role in diseases such as Rett syndrome.
Andrew B. Singleton is a British neurogeneticist currently working in the USA. He was born in Guernsey, the Channel Islands in 1972, where he lived until he was 18 years old. His secondary education was conducted at the Guernsey Grammar School. He earned a first class degree in Applied Physiology from Sunderland University and his PhD in neuroscience from the University of Newcastle upon Tyne where he studied the genetics of Alzheimer's disease and other dementias at the Medical Research Council (MRC) Neurochemical Pathology Unit. He moved to the United States in 1999, where he began working at the Mayo Clinic in Jacksonville, Florida studying the genetic basis of Parkinson's disease, ataxia, and dystonia. He moved to the National Institutes of Health in 2001 to head the newly formed Molecular Genetics unit within the Laboratory of Neurogenetics. In 2006 he took over as Chief of the Laboratory of Neurogenetics and became an NIH Distinguished Investigator in the intramural program at the National Institute on Aging (NIA) in 2017. In 2020 he stepped down as the Chief of the Laboratory of Neurogenetics and became the Acting Director of the newly formed Center for Alzheimer's and Related Dementias at the NIA. In 2021 he became the Director of CARD.
Eric Emil Schadt is an American mathematician and computational biologist. He is founder and former chief executive officer of Sema4, a patient-centered health intelligence company, and dean for precision medicine and Mount Sinai Professor in Predictive Health and Computational Biology at the Icahn School of Medicine at Mount Sinai. He was previously founding director of the Icahn Institute for Genomics and Multiscale Biology and chair of the Department of Genetics and Genomics Sciences at the Icahn School of Medicine at Mount Sinai.
An epigenetic clock is a biochemical test that can be used to measure age. The test is based on DNA methylation levels, measuring the accumulation of methyl groups to one's DNA molecules.
Neuroepigenetics is the study of how epigenetic changes to genes affect the nervous system. These changes may effect underlying conditions such as addiction, cognition, and neurological development.
An epigenome-wide association study (EWAS) is an examination of a genome-wide set of quantifiable epigenetic marks, such as DNA methylation, in different individuals to derive associations between epigenetic variation and a particular identifiable phenotype/trait. When patterns change such as DNA methylation at specific loci, discriminating the phenotypically affected cases from control individuals, this is considered an indication that epigenetic perturbation has taken place that is associated, causally or consequentially, with the phenotype.
Epigenetics in forensic science is the application of epigenetics to solving crimes.
Sharon K. Davis is an American social epidemiologist. She is a senior scientist and head of the Social Epidemiology Research Unit at the National Human Genome Research Institute.
Michelle Luciano is a Reader in the School of Philosophy, Psychology and Language Sciences at the University of Edinburgh. Her research focuses on the use of twin studies to estimate genetic and environmental contributions to human behavior.She has conducted research on the relationship between Mediterranean diet and brain volume. She was awarded the Visiting Professor Award to visit Trinity College Dublin in June 2019. She was a lead researcher in a study which identified 42 genetic variants associated with dyslexia and that the genetic risk was similar between sexes, this project was in collaboration with researchers from Max Planck Institute for Psycholinguistics, QIMR Berghofer Medical Research Institute, and 23andMe.
Lori Elizabeth Dodd is an American mathematical statistician specialized in clinical trials methodology, statistical analysis of genomic data, design of clinical trials using biomarkers and imaging modalities, and statistical methods for analyzing biomarkers. She is a statistician in the biostatistics research branch at the National Institute of Allergy and Infectious Diseases.
Robert J. Schmitz is an American plant biologist and epigenomicist at the University of Georgia where he studies the generation and phenotypic consequences of plant epialleles as well as developing new techniques to identify and study cis-regulatory sequences. He is an associate professor in the department of genetics and the UGA Foundation Endowed Pant Sciences Professor.
Wei-Shau Hu is an American geneticist specialized in HIV research, retroviral recombination, RNA packaging, and virus assembly. She is a senior investigator at the National Cancer Institute and head of the viral recombination section. She was an associate professor at West Virginia University.
Nicole Schupf is an American epidemiologist and neuroscientist who is Professor of Epidemiology in Neurology, Psychiatry, the Gertrude H. Sergievsky Center, and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Faculty of Medicine. She studies aging and Alzheimer's disease in individuals with Down syndrome.
Cuilin Zhang is a Chinese-American epidemiologist and physician-scientist researching the roles of genetic and environmental factors in the pathogenesis of gestational diabetes, type 2 diabetes, and obesity and health consequences of these complications. Zhang is a senior investigator and acting chief of the epidemiology branch at the Eunice Kennedy Shriver National Institute of Child Health and Human Development.
Xiaohong Rose Yang is an American biomedical scientist researching the genetics of dysplastic nevus syndrome and chordoma, and etiologic heterogeneity of breast cancer. She is a senior investigator at the National Cancer Institute. Yang leads breast cancer studies in mainland China, Hong Kong, and Malaysia.
Stephanie J. London is an American epidemiologist and physician-scientist specializing in environmental health, respiratory diseases, and genetic susceptibility. She is the deputy chief of the epidemiology branch at the National Institute of Environmental Health Sciences.
Megan A. Clarke is an American cancer epidemiologist who researches anogenital and endometrial cancers. She is a Stadtman investigator in the clinical genetics branch at the National Cancer Institute.
References
- ↑ "Dena HERNANDEZ". National Institute on Aging. Retrieved 2021-10-01.
This article incorporates text from this source, which is in the public domain . - ↑ Hernandez, Dena Michelle Godwin (2016). Genetic variation and DNA methylation in the context of neurological disease (Ph.D. thesis). University College London. OCLC 1166871130.
This article incorporates public domain material from websites or documents of the National Institutes of Health.