Biologia futura: confessions in genes
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REVIEW
Biologia futura: confessions in genes Horolma Pamjav1 · Krisztina Krizsán1 Received: 8 June 2020 / Accepted: 7 October 2020 © Akadémiai Kiadó Zrt. 2020
Abstract Y-DNA and mtDNA have been a widely used tool not only in forensic genetic applications but in human evolutionary and population genetic studies. Its paternal or maternal inheritance and lack of recombination have offered the opportunity to explore genealogical relationships among individuals and to study the frequency differences of paternal and maternal clades among human populations at continental and regional levels. It is unbelievable, but true, that the disadvantages of paternal and maternal lineages in forensic genetic studies, i.e., everyone within a family have the same paternal or maternal haplotype and haplogroup, become advantages in human evolutionary studies, i.e., reveal the genetic history of successful mothers and successful fathers. Thanks to these amazing properties of haploid markers, they provide tools for mapping the migration routes of human populations during prehistoric and historical periods, separately as maternal and paternal lineages, and together as the genetic history of a population. Keywords Human migration history · History of ancient mothers and fathers · Hungarian population history
Introduction Human history is tightly related with a history of population migration. Patterns of genetic diversity provide information about population history because each major demographic event left an imprint on genomic diversity of populations. These demographic signatures are passed from generation to generation; thus, the genomes of modern individuals reflect their demographic history. Studies for evolutionary history have benefited from analyses of the non-recombining region of the Y chromosome (NRY) and mitochondrial DNA (mtDNA). Because these regions of human genome are not shuffled by recombination, they are transmitted intact from one generation to the next, revealing the paternal and maternal lineages of a population. Populations share Y chromosome or mtDNA lineages as a result of common origins or gene flow (admixture). Use of the Y-DNA and mtDNA has been extensively studied and used in migration studies and in the analysis of population history and origins (Wells et al. 2001; Cinnioglu et al. 2004; Nasidze et al. 2005; Pakendorf et al. 2007). Y chromosome markers * Horolma Pamjav [email protected] 1
Institute of Forensic Genetics, Hungarian Institute for Forensic Sciences, PO: 314/4, Budapest 1903, Hungary
tend to show restricted regional distribution, or population specificity, making them ideal in marking unique migration events (Hammer et al. 1997). The variation of the Y chromosome and mtDNA between different population groups can be used to estimate the time back to common ancestors. There has been significant progress in reconstructing the detailed genealogical branching order of the tree topologies for both the non-recombining region of the Y chromosome and mtDNA (Jobling and Tyler-Smith 2003; Underhill
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