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Genetics is a branch of biology concerned with the study of genes, genetic variation, and heredity in organisms.
In the fields of molecular biology and genetics, a genome is all genetic information of an organism. It consists of nucleotide sequences of DNA. The nuclear genome includes protein-coding genes and non-coding genes, the other functional regions of the genome, and any junk DNA if it is present. Algae and plants contain chloroplasts with a chloroplast genome and almost all eukaryotes have mitochondria and a mitochondrial genome.
A race is a categorization of humans based on shared physical or social qualities into groups generally viewed as distinct within a given society. The term came into common usage during the 1500s, when it was used to refer to groups of various kinds, including those characterized by close kinship relations. By the 17th century, the term began to refer to physical (phenotypical) traits, and then later to national affiliations. Modern science regards race as a social construct, an identity which is assigned based on rules made by society. While partly based on physical similarities within groups, race does not have an inherent physical or biological meaning. The concept of race is foundational to racism, the belief that humans can be divided based on the superiority of one race over another.
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 mount of junk DNA.
Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dimensional structural configuration. In contrast to genetics, which refers to the study of individual genes and their roles in inheritance, genomics aims at the collective characterization and quantification of all of an organism's genes, their interrelations and influence on the organism. Genes may direct the production of proteins with the assistance of enzymes and messenger molecules. In turn, proteins make up body structures such as organs and tissues as well as control chemical reactions and carry signals between cells. Genomics also involves the sequencing and analysis of genomes through uses of high throughput DNA sequencing and bioinformatics to assemble and analyze the function and structure of entire genomes. Advances in genomics have triggered a revolution in discovery-based research and systems biology to facilitate understanding of even the most complex biological systems such as the brain.
In human genetics, the Mitochondrial Eve is the matrilineal most recent common ancestor (MRCA) of all living humans. In other words, she is defined as the most recent woman from whom all living humans descend in an unbroken line purely through their mothers and through the mothers of those mothers, back until all lines converge on one woman.
Computational biology refers to the use of data analysis, mathematical modeling and computational simulations to understand biological systems and relationships. An intersection of computer science, biology, and big data, the field also has foundations in applied mathematics, chemistry, and genetics. It differs from biological computing, a subfield of computer engineering which uses bioengineering to build computers.
A population bottleneck or genetic bottleneck is a sharp reduction in the size of a population due to environmental events such as famines, earthquakes, floods, fires, disease, and droughts; or human activities such as specicide, widespread violence or intentional culling, and human population planning. Such events can reduce the variation in the gene pool of a population; thereafter, a smaller population, with a smaller genetic diversity, remains to pass on genes to future generations of offspring through sexual reproduction. Genetic diversity remains lower, increasing only when gene flow from another population occurs or very slowly increasing with time as random mutations occur. This results in a reduction in the robustness of the population and in its ability to adapt to and survive selecting environmental changes, such as climate change or a shift in available resources. Alternatively, if survivors of the bottleneck are the individuals with the greatest genetic fitness, the frequency of the fitter genes within the gene pool is increased, while the pool itself is reduced.
Researchers have investigated the relationship between race and genetics as part of efforts to understand how biology may or may not contribute to human racial categorization.
Conservation genetics is an interdisciplinary subfield of population genetics that aims to understand the dynamics of genes in populations principally to avoid extinction. Therefore, it applies genetic methods to the conservation and restoration of biodiversity. Researchers involved in conservation genetics come from a variety of fields including population genetics, molecular ecology, biology, evolutionary biology, and systematics. Genetic diversity is one of the three fundamental levels of biodiversity, so it is directly important in conservation. Genetic variability influences both the health and long-term survival of populations because decreased genetic diversity has been associated with reduced fitness, such as high juvenile mortality, diminished population growth, reduced immunity, and ultimately, higher extinction risk.
Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism.
The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint. It remains the world's largest collaborative biological project. Planning started after the idea was picked up in 1984 by the US government, the project formally launched in 1990, and was declared essentially complete on April 14, 2003, but included only about 85% of the genome. Level "complete genome" was achieved in May 2021, with a remaining only 0.3% bases covered by potential issues. The final gapless assembly was finished in January 2022.
Masatoshi Nei is a Japanese-born American evolutionary biologist currently affiliated with the Department of Biology at Temple University as a Carnell Professor. He was, until recently, Evan Pugh Professor of Biology at Pennsylvania State University and Director of the Institute of Molecular Evolutionary Genetics; he was there from 1990 to 2015.
Xq28 is a chromosome band and genetic marker situated at the tip of the X chromosome which has been studied since at least 1980. The band contains three distinct regions, totaling about 8 Mbp of genetic information. The marker came to the public eye in 1993 when studies by Dean Hamer and others indicated a link between the Xq28 marker and male sexual orientation.
The Genetic history of Europe deals with the formation, ethnogenesis, and other DNA-specific information about populations indigenous, or living in Europe.
Gephyrin is a protein that in humans is encoded by the GPHN gene.
Chromosome conformation capture techniques are a set of molecular biology methods used to analyze the spatial organization of chromatin in a cell. These methods quantify the number of interactions between genomic loci that are nearby in 3-D space, but may be separated by many nucleotides in the linear genome. Such interactions may result from biological functions, such as promoter-enhancer interactions, or from random polymer looping, where undirected physical motion of chromatin causes loci to collide. Interaction frequencies may be analyzed directly, or they may be converted to distances and used to reconstruct 3-D structures.
The multiregional hypothesis, multiregional evolution (MRE), or polycentric hypothesis is a scientific model that provides an alternative explanation to the more widely accepted "Out of Africa" model of monogenesis for the pattern of human evolution.
There is evidence for interbreeding between archaic and modern humans during the Middle Paleolithic and early Upper Paleolithic. The interbreeding happened in several independent events that included Neanderthals and Denisovans, as well as several unidentified hominins.
The genetic history of Egypt's demographics reflects its geographical location at the crossroads of several major biocultural areas: North Africa, the Sahara, the Middle East, the Mediterranean and sub-Saharan Africa.
References
- ↑ "Washington University in St. Louis Department of Biology Faculty".
- ↑ "Alan Templeton Curriculum Vitae". Washington University in St. Louis. Retrieved 2022-01-12.
- 1 2 Templeton, Alan R. (September 2013). "Biological races in humans". Studies in History and Philosophy of Science Part C: Studies in History and Philosophy of Biological and Biomedical Sciences. 44 (3): 262–271. doi:10.1016/j.shpsc.2013.04.010. PMC 3737365 . PMID 23684745.
- ↑ Templeton, A. R. (2002). "Out of Africa again and again" (PDF). Nature . 416 (6876): 45–51. Bibcode:2002Natur.416...45T. doi:10.1038/416045a. PMID 11882887. S2CID 4397398. Archived from the original (PDF) on 2020-04-12. Retrieved 2017-11-17.
- ↑ A plea to lose the race The Age, July 15, 2004
- ↑ "Big data allows computer engineers to find genetic clues in humans". March 27, 2015.
- ↑ Climer, Sharlee; Templeton, Alan R.; Zhang, Weixiong (March 27, 2015). "Human gephyrin is encompassed within giant functional noncoding yin–yang sequences". Nature Communications. 6: 6534. Bibcode:2015NatCo...6.6534C. doi:10.1038/ncomms7534. PMC 4380243 . PMID 25813846.
