scholarly journals A comparison of worldwide phonemic and genetic variation in human populations

2015 ◽  
Vol 112 (5) ◽  
pp. 1265-1272 ◽  
Author(s):  
Nicole Creanza ◽  
Merritt Ruhlen ◽  
Trevor J. Pemberton ◽  
Noah A. Rosenberg ◽  
Marcus W. Feldman ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Demographic History ◽  
Horizontal Transmission ◽  
Geographic Distance ◽  
Global Scale ◽  
Human Populations ◽  
Isolated Populations ◽  
Human Dispersal ◽  
Genetic Sampling ◽  
Serial Founder Effect

Worldwide patterns of genetic variation are driven by human demographic history. Here, we test whether this demographic history has left similar signatures on phonemes—sound units that distinguish meaning between words in languages—to those it has left on genes. We analyze, jointly and in parallel, phoneme inventories from 2,082 worldwide languages and microsatellite polymorphisms from 246 worldwide populations. On a global scale, both genetic distance and phonemic distance between populations are significantly correlated with geographic distance. Geographically close language pairs share significantly more phonemes than distant language pairs, whether or not the languages are closely related. The regional geographic axes of greatest phonemic differentiation correspond to axes of genetic differentiation, suggesting that there is a relationship between human dispersal and linguistic variation. However, the geographic distribution of phoneme inventory sizes does not follow the predictions of a serial founder effect during human expansion out of Africa. Furthermore, although geographically isolated populations lose genetic diversity via genetic drift, phonemes are not subject to drift in the same way: within a given geographic radius, languages that are relatively isolated exhibit more variance in number of phonemes than languages with many neighbors. This finding suggests that relatively isolated languages are more susceptible to phonemic change than languages with many neighbors. Within a language family, phoneme evolution along genetic, geographic, or cognate-based linguistic trees predicts similar ancestral phoneme states to those predicted from ancient sources. More genetic sampling could further elucidate the relative roles of vertical and horizontal transmission in phoneme evolution.

scholarly journals Genomic and demographic processes differentially influence genetic variation across the X chromosome

2021 ◽  
Author(s):  
Daniel J. Cotter ◽  
Timothy H. Webster ◽  
Melissa A. Wilson
Keyword(s):  
Genetic Diversity ◽  
Genetic Variation ◽  
Linkage Disequilibrium ◽  
X Chromosome ◽  
Global Scale ◽  
Careful Consideration ◽  
Human Populations ◽  
Evolutionary Forces ◽  
Ideal System ◽  
Demographic Patterns

AbstractMutation, recombination, selection, and demography affect genetic variation across the genome. Increased mutation and recombination both lead to increases in genetic diversity in a region-specific manner, while complex demographic patterns shape patterns of diversity on a more global scale. The X chromosome is particularly interesting because it contains several distinct regions that are subject to different combinations and strengths of these processes, notably the pseudoautosomal regions (PARs) and the X-transposed region (XTR). The X chromosome thus can serve as a unique model for studying how genetic and demographic forces act in different contexts to shape patterns of observed variation. Here we investigate diversity, divergence, and linkage disequilibrium in each region of the X chromosome using genomic data from 26 human populations. We find that both diversity and substitution rate are consistently elevated in PAR1 and the XTR compared to the rest of the X chromosome. In contrast, linkage disequilibrium is lowest in PAR1 and highest on the non-recombining X chromosome, with the XTR falling in between, suggesting that the XTR (usually included in the non-recombining X) may need to be considered separately in future studies. We also observed strong population-specific effects on genetic diversity; not only does genetic variation differ on the X and autosomes among populations, but the effects of linked selection on the X relative to autosomes have been shaped by population-specific history. The substantial variation in patterns of variation across these regions provides insight into the unique evolutionary history contained within the X chromosome.Significance StatementDemography and selection affect the X chromosome differently from non-sex chromosomes. However, the X chromosome can be subdivided into multiple distinct regions that facilitate even more fine-scaled assessment of these processes. Here we study regions of the human X chromosome in 26 populations to find evidence that recombination may be mutagenic in humans and that the X-transposed region may undergo recombination. Further we observe that the effects of selection and demography act differently on the X chromosome relative to the autosomes across human populations. Together, our results highlight profound regional differences across the X chromosome, simultaneously making it an ideal system for exploring the action of evolutionary forces as well as necessitating its careful consideration and treatment in genomic analyses.

scholarly journals Long runs of homozygosity are correlated with marriage preferences across global population samples

2021 ◽  
Author(s):  
Samali Anova Sahoo ◽  
Arslan A. Zaidi ◽  
Santosh Anagol ◽  
Iain Mathieson
Keyword(s):  
Genetic Variation ◽  
Demographic History ◽  
Global Scale ◽  
Detectable Effect ◽  
Human Genetic Variation ◽  
Runs Of Homozygosity ◽  
Expected Number ◽  
Cousin Marriage ◽  
Shared Ancestry ◽  
Global Population

AbstractChildren of consanguineous unions carry long runs of homozygosity (ROH) in their genomes, due to their parents’ recent shared ancestry. This increases the burden of recessive disease in populations with high levels of consanguinity and has been heavily studied in some groups. However, there has been little investigation of the broader effect of consanguinity on patterns of genetic variation on a global scale. Here, we collect published genetic data and information about marriage practices from 396 worldwide populations and show that preference for cousin marriage has a detectable effect on the distribution of long ROH in these samples, increasing the expected number of ROH longer than 10Mb by a factor of 1.5 (P=2.3 × 10−4). Variation in marriage practice and consequent rates of consanguinity is therefore an important aspect of demographic history for the purposes of modeling human genetic variation. However, marriage practices explain a relatively small proportion of the variation in ROH distribution and consequently the ability to predict marriage practices from population genetic samples (for example of ancient populations) is limited.

scholarly journals Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa

2005 ◽  
Vol 102 (44) ◽  
pp. 15942-15947 ◽  
Author(s):  
S. Ramachandran ◽  
O. Deshpande ◽  
C. C. Roseman ◽  
N. A. Rosenberg ◽  
M. W. Feldman ◽  
...  
Keyword(s):  
Founder Effect ◽  
Geographic Distance ◽  
Human Populations ◽  
Serial Founder Effect ◽  
Relationship Of ◽  
The Relationship

scholarly journals The demographic history and mutational load of African hunter-gatherers and farmers

2017 ◽  
Author(s):  
Marie Lopez ◽  
Athanasios Kousathanas ◽  
Hélène Quach ◽  
Christine Harmant ◽  
Patrick Mouguiama-Daouda ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Gene Flow ◽  
Demographic History ◽  
Purifying Selection ◽  
Human Populations ◽  
Mutational Load ◽  
Sequencing Data ◽  
Hunter Gatherers ◽  
African Populations ◽  
The Impact

AbstractThe distribution of deleterious genetic variation across human populations is a key issue in evolutionary biology and medical genetics. However, the impact of different modes of subsistence on recent changes in population size, patterns of gene flow, and deleterious mutational load remains unclear. Here, we report high-coverage exome sequencing data from various populations of rainforest hunter-gatherers and farmers from central Africa. We find that the recent demographic histories of hunter-gatherers and farmers differed considerably, with population collapses for hunter-gatherers and expansions for farmers, accompanied by increased gene flow. We show that purifying selection against deleterious alleles is of similar efficiency across African populations, in contrast with Europeans where we detect weaker purifying selection. Furthermore, the per-individual mutation load of rainforest hunter-gatherers is similar to that of farmers, under both additive and recessive models. Our results indicate that differences in the cultural practices and demographic regimes of African populations have not resulted in large differences in mutational burden, and highlight the beneficial role of gene flow in reshaping the distribution of deleterious genetic variation across human populations.

Significant genetic differences among Heterodera schachtii populations within and among sugar beet production areas

Nematology ◽  
2020 ◽  
Vol 22 (2) ◽  
pp. 165-177 ◽  
Author(s):  
Rasha Haj Nuaima ◽  
Johannes Roeb ◽  
Johannes Hallmann ◽  
Matthias Daub ◽  
Holger Heuer
Keyword(s):  
Genetic Variation ◽  
Genetic Structure ◽  
Population Genetic Structure ◽  
Population Genetic ◽  
Spatial Scales ◽  
Geographic Distance ◽  
Heterodera Schachtii ◽  
Parasitic Nematodes ◽  
Neutral Genetic Variation ◽  
Production Areas

Summary Characterising the non-neutral genetic variation within and among populations of plant-parasitic nematodes is essential to determine factors shaping the population genetic structure. This study describes the genetic variation of the parasitism gene vap1 within and among geographic populations of the beet cyst nematode Heterodera schachtii. Forty populations of H. schachtii were sampled at four spatial scales: 695 km, 49 km, 3.1 km and 0.24 km. DGGE fingerprinting showed significant differences in vap1 patterns among populations. High similarity of vap1 patterns appeared between geographically close populations, and occasionally among distant populations. Analysis of spatially sampled populations within fields revealed an effect of tillage direction on the vap1 similarity for two of four studied fields. Overall, geographic distance and similarity of vap1 patterns of H. schachtii populations were negatively correlated. In conclusion, the population genetic structure was shaped by the interplay between the genetic adaptation and the passive transport of this nematode.

scholarly journals An Ancient Baboon Genome Demonstrates Long-Term Population Continuity in Southern Africa

2020 ◽  
Vol 12 (4) ◽  
pp. 407-412 ◽  
Author(s):  
Iain Mathieson ◽  
Federico Abascal ◽  
Lasse Vinner ◽  
Pontus Skoglund ◽  
Cristina Pomilla ◽  
...  
Keyword(s):  
Southern Africa ◽  
Nonhuman Primates ◽  
Demographic History ◽  
Structured Populations ◽  
Human Populations ◽  
Papio Ursinus ◽  
Anthropological Research ◽  
Population Continuity ◽  
High Degree

Abstract Baboons are one of the most abundant large nonhuman primates and are widely studied in biomedical, behavioral, and anthropological research. Despite this, our knowledge of their evolutionary and demographic history remains incomplete. Here, we report a 0.9-fold coverage genome sequence from a 5800-year-old baboon from the site of Ha Makotoko in Lesotho. The ancient baboon is closely related to present-day Papio ursinus individuals from southern Africa—indicating a high degree of continuity in the southern African baboon population. This level of population continuity is rare in recent human populations but may provide a good model for the evolution of Homo and other large primates over similar timespans in structured populations throughout Africa.

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