2003/01/01 by P. A. Underhill · 22 citations
Biochemistry, Genetics and Molecular Biology · #Forensic and Genetic Research #Genetic diversity and population structure #Race, Genetics, and Society #Evolutionary biology #Biology #Population #Genome #Common descent #Locus (genetics) #Human evolution #Human genome #Genetics #Molecular evolution #Genetic variation #Population size #Population genomics #Population genetics #Genomics #Gene #Phylogenetic tree
paper · doi:10.1101/sqb.2003.68.487
published in Cold Spring Harbor Symposia on Quantitative Biology 68(0), 487-494 (Cold Spring Harbor Laboratory Press)
openalex publication_date 2003/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/14
DNA molecules are organic elements of informationstorage imbued with imperfect copying processes. Thus,they are fundamental repositories of an organism's evolutionary history. The field of human molecular evolutionis predicated on the concept that patterns of DNA sequence variation in living populations encode aspects ofhuman heritage shaped by a constellation of evolutionaryinfluences. The framework of genetic variability in thegenome reflects both evolutionary adaptive processesthat are locus-specific and population-level forces that affect all the components of the genome equally. Geneticresearch often focuses on distinguishing inconsistenciesin patterns of variation between genomic regions to helpbridge the gap between particular genes and traits, including matters of function and malfunction. Alternatively, genomic DNA is also an archive of those aspectsof human evolutionary processes reflective of population-level forces like drift, subdivision, size fluctuation,and migration. By studying the degree of genetic molecular variation, one can, in principle, reconstruct pastevents such as expansions and settlements from whichorigins of specific populations can be predicted (Cavalli-Sforza et al. 1994). However, since the bulk of commonvariation in the genome occurs between individuals, thedifference between populations is low, making it morechallenging to investigate ambiguities concerning affinities and origins of populations. It is the component of between-population variance that best provides insights intothe evolution of the spectrum of extant populations (Cavalli-Sforza and Feldman 2003). In addition, determiningthe migratory patterns of our ancestors and their timing,as well as the amount of population admixture due to suchmigrations, has been experimentally less tractable. Consequently, such issues are often simply ignored when reconstructing population phylogenies where little or nomigration is implicitly assumed...