Biomaterial Database

The impact of population expansion and mutation rate heterogeneity on DNA sequence polymorphism. 1996

S Aris-Brosou, and L Excoffier

Institut National Agronomique Paris-Grignon, France.

In order to study the effect of mutation rate heterogeneity on patterns of DNA polymorphism, we simulated samples of DNA sequences with gamma-distributed nucleotide substitution rates in stationary and expanding populations. We find that recent population expansions and mutation rate heterogeneity have similar effects on several polymorphism indicators, like the shape and the mean of the observed pairwise difference distribution, or the number of segregating sites. The inferred size of population expansion thus appears overestimated if nucleotides have dissimilar substitution rates. Interestingly, population expansion and uneven mutation rates have contrasting effects on Tajima's D statistic when acting separately, and the consequence on the associated test of selective neutrality is investigated. The patterns of polymorphism of several human populations analyzed for the mitochondrial control region are examined, mainly showing the difficulty in quantifying the respective contribution of past demographic history and uneven mutation rates from a single sampled evolutionary process. However, substitution rates appear more heterogeneous in the second hypervariable segment of the control region than in the first segment.

UI	MeSH Term	Description	Entries
D008433	Mathematics	The deductive study of shape, quantity, and dependence. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)	Mathematic
D008957	Models, Genetic	Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.	Genetic Models,Genetic Model,Model, Genetic
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D011110	Polymorphism, Genetic	The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.	Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D011156	Population Density	Number of individuals in a population relative to space.	Overpopulation,Population Size,Underpopulation,Densities, Population,Density, Population,Population Densities,Population Sizes
D011336	Probability	The study of chance processes or the relative frequency characterizing a chance process.	Probabilities
D003710	Demography	Statistical interpretation and description of a population with reference to distribution, composition, or structure.	Demographer,Demographic,Demographic and Health Survey,Population Distribution,Accounting, Demographic,Analyses, Demographic,Analyses, Multiregional,Analysis, Period,Brass Technic,Brass Technique,Demographers,Demographic Accounting,Demographic Analysis,Demographic Factor,Demographic Factors,Demographic Impact,Demographic Impacts,Demographic Survey,Demographic Surveys,Demographic and Health Surveys,Demographics,Demography, Historical,Demography, Prehistoric,Factor, Demographic,Factors, Demographic,Family Reconstitution,Historical Demography,Impact, Demographic,Impacts, Demographic,Multiregional Analysis,Period Analysis,Population Spatial Distribution,Prehistoric Demography,Reverse Survival Method,Stable Population Method,Survey, Demographic,Surveys, Demographic,Analyses, Period,Analysis, Demographic,Analysis, Multiregional,Demographic Analyses,Demographies, Historical,Demographies, Prehistoric,Distribution, Population,Distribution, Population Spatial,Distributions, Population,Distributions, Population Spatial,Family Reconstitutions,Historical Demographies,Method, Reverse Survival,Method, Stable Population,Methods, Reverse Survival,Methods, Stable Population,Multiregional Analyses,Period Analyses,Population Distributions,Population Methods, Stable,Population Spatial Distributions,Prehistoric Demographies,Reconstitution, Family,Reconstitutions, Family,Reverse Survival Methods,Spatial Distribution, Population,Spatial Distributions, Population,Stable Population Methods,Technic, Brass,Technique, Brass
D004247	DNA	A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).	DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D004272	DNA, Mitochondrial	Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.	Mitochondrial DNA,mtDNA
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man