Cambridge Reference Sequence
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Cambridge Reference Sequence
The Cambridge Reference Sequence (CRS) for human mitochondrial DNA was first announced in 1981. A group led by Fred Sanger at the University of Cambridge had sequenced the mitochondrial genome of one woman of European descent during the 1970s, determining it to have a length of 16,569 base pairs (0.0006% of the nuclear human genome) containing some 37 genes and published this sequence in 1981. When other researchers repeated the sequencing, some striking discrepancies were noted. The original published sequence included eleven errors, including one extra base pair in position 3107, and incorrect assignments of single base pairs. Some of these were the result of contamination with bovine and HeLa specimens. The corrected revised CRS was published by Andrews et al. in 1999. (The original nucleotide numbering was retained to avoid confusion.) The reference sequence belongs to European haplogroup H2a2a1. The revised CRS is designated as rCRS. It is deposited in the GenBank NCBI d ...
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Map Of The Human Mitochondrial Genome
A map is a symbolic depiction emphasizing relationships between elements of some space, such as objects, regions, or themes. Many maps are static, fixed to paper or some other durable medium, while others are dynamic or interactive. Although most commonly used to depict geography, maps may represent any space, real or fictional, without regard to context or scale, such as in brain mapping, DNA mapping, or computer network topology mapping. The space being mapped may be two dimensional, such as the surface of the earth, three dimensional, such as the interior of the earth, or even more abstract spaces of any dimension, such as arise in modeling phenomena having many independent variables. Although the earliest maps known are of the heavens, geographic maps of territory have a very long tradition and exist from ancient times. The word "map" comes from the , wherein ''mappa'' meant 'napkin' or 'cloth' and ''mundi'' 'the world'. Thus, "map" became a shortened term referring to ...
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Human
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, and language. Humans are highly social and tend to live in complex social structures composed of many cooperating and competing groups, from families and kinship networks to political states. Social interactions between humans have established a wide variety of values, social norms, and rituals, which bolster human society. Its intelligence and its desire to understand and influence the environment and to explain and manipulate phenomena have motivated humanity's development of science, philosophy, mythology, religion, and other fields of study. Although some scientists equate the term ''humans'' with all members of the genus ''Homo'', in common usage, it generally refers to ''Homo sapiens'', the only extant member. Anatomically moder ...
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Mitochondrial DNA
Mitochondrial DNA (mtDNA or mDNA) is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert chemical energy from food into a form that cells can use, such as adenosine triphosphate (ATP). Mitochondrial DNA is only a small portion of the DNA in a eukaryotic cell; most of the DNA can be found in the cell nucleus and, in plants and algae, also in plastids such as chloroplasts. Human mitochondrial DNA was the first significant part of the human genome to be sequenced. This sequencing revealed that the human mtDNA includes 16,569 base pairs and encodes 13 proteins. Since animal mtDNA evolves faster than nuclear genetic markers, it represents a mainstay of phylogenetics and evolutionary biology. It also permits an examination of the relatedness of populations, and so has become important in anthropology and biogeography. Origin Nuclear and mitochondrial DNA are thought to be of separate evolutionary origin, with the mtDNA being derived ...
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Fred Sanger
Frederick Sanger (; 13 August 1918 – 19 November 2013) was an English biochemist who received the Nobel Prize in Chemistry twice. He won the 1958 Chemistry Prize for determining the amino acid sequence of insulin and numerous other proteins, demonstrating in the process that each had a unique, definite structure; this was a foundational discovery for the central dogma of molecular biology. At the newly-constructed Laboratory of Molecular Biology in Cambridge, he developed and subsequently refined the first-ever DNA sequencing technique, which vastly expanded the number of feasible experiments in molecular biology and remains in widespread use today. The breakthrough earned him the 1980 Nobel Prize in Chemistry, which he shared with Walter Gilbert and Paul Berg. He is one of only three people to have won multiple Nobel Prizes in the same category (the others being John Bardeen in physics and Karl Barry Sharpless in chemistry), and one of five persons with two Nob ...
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University Of Cambridge
, mottoeng = Literal: From here, light and sacred draughts. Non literal: From this place, we gain enlightenment and precious knowledge. , established = , other_name = The Chancellor, Masters and Scholars of the University of Cambridge , type = Public research university , endowment = £7.121 billion (including colleges) , budget = £2.308 billion (excluding colleges) , chancellor = The Lord Sainsbury of Turville , vice_chancellor = Anthony Freeling , students = 24,450 (2020) , undergrad = 12,850 (2020) , postgrad = 11,600 (2020) , city = Cambridge , country = England , campus_type = , sporting_affiliations = The Sporting Blue , colours = Cambridge Blue , website = , logo = University of Cambridge logo ...
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HeLa
HeLa (; also Hela or hela) is an immortalized cell line used in scientific research. It is the oldest and most commonly used human cell line. The line is derived from cervical cancer cells taken on February 8, 1951, named after Henrietta Lacks, a 31-year-old African-American mother of five, who died of cancer on October 4, 1951. The cell line was found to be remarkably durable and prolific, which allows it to be used extensively in scientific study. The cells from Lacks's cancerous cervical tumor were taken without her knowledge or consent, which was common practice in the United States at the time. Cell biologist George Otto Gey found that they could be kept alive, and developed a cell line. Previously, cells cultured from other human cells would only survive for a few days. Cells from Lacks's tumor behaved differently. History Origin In 1951, a patient named Henrietta Lacks was admitted to the Johns Hopkins Hospital with symptoms of irregular vaginal bleeding, and was s ...
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Haplogroup H (mtDNA)
Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup. The clade is believed to have originated in Southwest Asia, near present day Syria, around 20,000 to 25,000 years ago. Mitochondrial haplogroup H is today predominantly found in Europe, and is believed to have evolved before the Last Glacial Maximum (LGM). It first expanded in the northern Near East and Southern Caucasus soon, and later migrations from Iberia suggest that the clade reached Europe before the Last Glacial Maximum. The haplogroup has also spread to parts of Africa, Siberia and inner Asia. Today, around 40% of all maternal lineages in Europe belong to haplogroup H. Origin Haplogroup H is a descendant of haplogroup HV. The Cambridge Reference Sequence (CRS), which until recently was the human mitochondrial sequence to which all others were compared, belongs to haplogroup H2a2a1 (human mitochondrial sequences should now be compared with the ancestral Reconstructed Sapiens Reference Sequence (RSRS)). Several ...
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National Center For Biotechnology Information
The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health (NIH). It is approved and funded by the government of the United States. The NCBI is located in Bethesda, Maryland, and was founded in 1988 through legislation sponsored by US Congressman Claude Pepper. The NCBI houses a series of databases relevant to biotechnology and biomedicine and is an important resource for bioinformatics tools and services. Major databases include GenBank for DNA sequences and PubMed, a bibliographic database for biomedical literature. Other databases include the NCBI Epigenomics database. All these databases are available online through the Entrez search engine. NCBI was directed by David Lipman, one of the original authors of the BLAST sequence alignment program and a widely respected figure in bioinformatics. GenBank NCBI had responsibility for making available the GenBank DNA seque ...
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Genealogical DNA Test
A genealogical DNA test is a DNA-based test used in genetic genealogy that looks at specific locations of a person's genome in order to find or verify ancestral genealogical relationships, or (with lower reliability) to estimate the ethnic mixture of an individual. Since different testing companies use different ethnic reference groups and different matching algorithms, ethnicity estimates for an individual vary between tests, sometimes dramatically. Three principal types of genealogical DNA tests are available, with each looking at a different part of the genome and being useful for different types of genealogical research: autosomal (atDNA), mitochondrial (mtDNA), and Y-DNA. Autosomal tests may result in a large number of DNA matches to both males and females who have also tested with the same company. Each match will typically show an estimated degree of relatedness, i.e., a close family match, 1st-2nd cousins, 3rd-4th cousins, etc. The furthest degree of relationship is u ...
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Mitochondrial Eve
In human genetics, the Mitochondrial Eve (also ''mt-Eve, mt-MRCA'') 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. In terms of mitochondrial haplogroups, the mt-MRCA is situated at the divergence of macro-haplogroup L into L0 and L1–6. As of 2013, estimates on the age of this split ranged at around 155,000 years ago, consistent with a date later than the speciation of ''Homo sapiens'' but earlier than the recent out-of-Africa dispersal. The male analog to the "Mitochondrial Eve" is the "Y-chromosomal Adam" (or Y-MRCA), the individual from whom all living humans are patrilineally descended. As the identity of both matrilineal and patrilineal MRCAs is dependent on genealogical history (pedigree collapse), they need not ha ...
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Family Tree DNA
FamilyTreeDNA is a division of Gene by Gene, a commercial genetic testing company based in Houston, Texas. FamilyTreeDNA offers analysis of autosomal DNA, YDNA, Y-DNA, and mitochondrial DNA to individuals for genealogical purpose. With a database of more than two million records, it is the most popular company worldwide for Y-DNA and mitochondrial DNA, and the fourth most popular for autosomal DNA. In Europe, it is the most common also for autosomal DNA. FamilyTreeDNA as a division of Gene by Gene were acquired by MYDNA, Inc., an Australian company in January 2021. History Concept and founding (2000–2002) FamilyTreeDNA was founded based on an idea conceived by Bennett Greenspan, a lifelong entrepreneur and genealogy enthusiast. In 1999, Greenspan had entered semi-retirement and was working on his family history. He began work on his mother's Nitz lineage. When faced with a roadblock in his work, he remembered two cases of genetics being used to prove ancestry that had recen ...
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Genetic Genealogy
Genetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to infer genetic relationships between individuals. This application of genetics came to be used by family historians in the 21st century, as DNA tests became affordable. The tests have been promoted by amateur groups, such as surname study groups or regional genealogical groups, as well as research projects such as the Genographic Project. As of 2019, about 30 million people had been tested. As the field developed, the aims of practitioners broadened, with many seeking knowledge of their ancestry beyond the recent centuries, for which traditional pedigrees can be constructed. History The investigation of surnames in genetics can be said to go back to George Darwin, a son of Charles Darwin and Charles' first cousin Emma Darwin. In 1875, George Darwin used surnames to estimate the frequency of first-cousin marriages and calculated t ...
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