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Evolution is the change in the heritable characteristics of biological populations over successive generations. It occurs when evolutionary processes such as natural selection and genetic drift act on genetic variation, resulting in certain characteristics becoming more or less common within a population over successive generations. The process of evolution has given rise to biodiversity at every level of biological organisation.
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.
Restless legs syndrome, (also known as restless leg syndrome (RLS) and Willis–Ekbom disease(WED), is a neurological disorder, usually chronic, that causes an overwhelming urge to move one's legs. There is often an unpleasant feeling in the legs that improves temporarily by moving them. This feeling is often described as aching, tingling, or crawling in nature. Occasionally, arms may also be affected. The feelings generally happen when at rest and therefore can make it hard to sleep. Sleep disruption may leave people with RLS sleepy during the day, with low energy, and irritable or depressed. Additionally, many have limb twitching during sleep, a condition known as periodic limb movement disorder. RLS is not the same as habitual foot-tapping or leg-rocking.
A polydactyl cat is a cat with a congenital physical anomaly called polydactyly, which causes the cat to be born with more than the usual number of toes on one or more of its paws. Cats with this genetically inherited trait are most commonly found along the East Coast of North America and in South West England and Wales.
Haplogroup T is a human mitochondrial DNA (mtDNA) haplogroup. It is believed to have originated around 25,100 years ago in the Near East.
Haplogroup I is a human mitochondrial DNA (mtDNA) haplogroup. It is believed to have originated about 21,000 years ago, during the Last Glacial Maximum (LGM) period in West Asia. The haplogroup is unusual in that it is now widely distributed geographically, but is common in only a few small areas of East Africa, West Asia and Europe. It is especially common among the El Molo and Rendille peoples of Kenya, various regions of Iran, the Lemko people of Slovakia, Poland and Ukraine, the island of Krk in Croatia, the department of Finistère in France and some parts of Scotland and Ireland.
Astigmatism is a type of refractive error due to rotational asymmetry in the eye's refractive power. This results in distorted or blurred vision at any distance. Other symptoms can include eyestrain, headaches, and trouble driving at night. Astigmatism often occurs at birth and can change or develop later in life. If it occurs in early life and is left untreated, it may result in amblyopia.
Haplogroup T-M184, also known as Haplogroup T, is a human Y-chromosome DNA haplogroup. The unique-event polymorphism that defines this clade is the single-nucleotide polymorphism known as M184.
Glutaminase 2 is a protein that in humans is encoded by the GLS2 gene.
Neurexin-3-alpha is a protein that in humans is encoded by the NRXN3 gene.
The genetic history of the British Isles is the subject of research within the larger field of human population genetics. It has developed in parallel with DNA testing technologies capable of identifying genetic similarities and differences between both modern and ancient populations. The conclusions of population genetics regarding the British Isles in turn draw upon and contribute to the larger field of understanding the history of the human occupation of the area, complementing work in linguistics, archaeology, history and genealogy.
In paleoanthropology, the recent African origin of modern humans or the "Out of Africa" theory (OOA) is the most widely accepted model of the geographic origin and early migration of anatomically modern humans. It follows the early expansions of hominins out of Africa, accomplished by Homo erectus and then Homo neanderthalensis.
The Study of Health in Pomerania (SHIP) is a population-based epidemiological study consisting of two independent cohorts. The SHIP investigates common risk factors, subclinical disorders and manifest diseases with highly innovative non-invasive methods in the high-risk population of northeast Germany. The study is not interested in one specific disease. The SHIP study´s main aims include the investigation of health in all its aspects and complexity involving the collection and assessment of data relevant to the prevalence and incidence of common, population-relevant diseases and their risk factors.
In human genetics, Y Haplogroup E-M123 is a Y-chromosome haplogroup, and defined by the single nucleotide polymorphism (SNP) mutation M123. Like its closest relatives within the larger E-M215 haplogroup, E-M123 is found in Asia, Europe and Africa.
Genetic studies on Arabs refers to the analyses of the genetics of ethnic Arab people in the Middle East and North Africa. Arabs are genetically diverse as a result of their intermarriage and mixing with indigenous people of the pre-Islamic Middle East and North Africa following the Arab and Islamic expansion. Genetic ancestry components related to the Arabian Peninsula display an increasing frequency pattern from west to east over North Africa. A similar frequency pattern exist across northeastern Africa with decreasing genetic affinities to groups of the Arabian Peninsula along the Nile river valley across Sudan and the more they go south. This genetic cline of admixture is dated to the time of Arab expansion and immigration to North Africa (Maghreb) and northeast Africa.
Haplogroup R-M269 is the sub-clade of human Y-chromosome haplogroup R1b that is defined by the SNP marker M269. According to ISOGG 2020 it is phylogenetically classified as R1b1a1b. It underwent intensive research and was previously classified as R1b1a2, R1b1c, R1b1b2 and R1b1a1a2.
Transmembrane protein 57 is a protein that in humans is encoded by the TMEM57 gene.
Ubiquitin conjugating enzyme E2 Q2 is a protein that in humans is encoded by the UBE2Q2 gene.
Jonathan Laurence Marchini is a Bayesian statistician and professor of statistical genomics in the Department of Statistics at the University of Oxford, a tutorial fellow in statistics at Somerville College, Oxford and a co-founder and director of Gensci Ltd. He co-leads the Haplotype Reference Consortium.
Igor Rudan is a Croatian-British scientist, science communicator. He is known to lead research projects in global health and genetics, write books, and create insightful documentary series.
References
- ↑ Enrico Massetti, "Reschenpass – Resia Pass", Südtirol and Dolomites, Enrico Massetti Publishing, 2018 ISBN 1329717082.
- 1 2 Cristian Pattaro, Fabio Marroni, Alice Riegler, Deborah Mascalzoni, Irene Pichler, Claudia B Volpato, Umberta Dal Cero, Alessandro De Grandi, Clemens Egger, Agatha Eisendle, Christian Fuchsberger, Martin Gögele, Sara Pedrotti, Gerd K Pinggera, Stefan A Stefanov, Florian D Vogl, Christian J Wiedermann, Thomas Meitinger, Peter P Pramstaller, "The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives", BMC Medical Genetics, vol. 8, p. 29-43, 2007
- ↑ F. Marroni, D. Grazio, C. Pattaro, M. Devoto, P. Pramstaller, "Estimates of genetic and environmental contribution to 45 quantitative traits support sharing of a homogeneous environment in an isolated population from South Tyrol, Italy", Human Heridity, vol. 65, no. 3, pp. 175-182, 2008.
- ↑ Ghazal Zaboli, Adam Ameur, Wilmar Igl, Åsa Johansson, Caroline Hayward, Veronique Vitart, Susan Campbell, Lina Zgaga, Ozren Polasek, Gerd Schmitz, Cornelia van Duijn, Ben Oostra, Peter Pramstaller, Andrew Hicks, Tomas Meitinger, Igor Rudan, Alan Wright, James F Wilson, Harry Campbell, Ulf Gyllensten, "Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits", European Journal of Human Genetics, vol. 20, pp. 77-83, 2012.
- ↑ Ginevra Biino, Paolo Gasparini, Pio D’Adamo, Marina Ciullo, Teresa Nutile, Daniela Toniolo, Cinzia Sala, Cosetta Minelli, Martin Gögele, Carlo L. Balduini, "Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological", British Journal of Haematology, vol. 157, iss. 3, pp. 384-387, May 2012.
- ↑ Wilmar Igl, Åsa Johansson, James F. Wilson, Sarah H. Wild, Ozren Polašek, Caroline Hayward, Veronique Vitart, Nicholas Hastie, Pavao Rudan, Carsten Gnewuch, Gerd Schmitz, Thomas Meitinger, Peter P. Pramstaller, Andrew A. Hicks, Ben A. Oostra, Cornelia M. van Duijn, Igor Rudan, Alan Wright, Harry Campbell, Ulf Gyllensten, "Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels", PLOS Genetics, vol. 6, iss. 1, January 2010.