Cross-cultural estimation of the human generation interval for use in genetics-based population divergence studies

Fenner, Jack N.

doi:10.1002/ajpa.20188

Cited by 468 publications

(410 citation statements)

References 44 publications

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“…The mutation rate used to estimate all TMRCAs was calculated by averaging the mutation rate values across the 15 STR markers used, as published in the Y Chromosome Haplotype Reference Database (www.yhrd.org, release 37; 0.002635 per locus per generation). A male generation time of 31 years was used, 17,18 and the mean age of all DNA sample donors (55 years) was subsequently added to the resulting TMRCA age estimate. It is also worth mentioning that TMRCA estimates are always subjected to errors inherent to time depth estimates from variable STR mutation rates.…”

Section: Discussionmentioning

confidence: 99%

The relationship between surname frequency and Y chromosome variation in Spain

et al. 2015

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In most societies, surnames are passed down from fathers to sons, just like the Y chromosome. It follows that, theoretically, men sharing the same surnames would also be expected to share related Y chromosomes. Previous investigations have explored such relationships, but so far, the only detailed studies that have been conducted are on samples from the British Isles. In order to provide additional insights into the correlation between surnames and Y chromosomes, we focused on the Spanish population by analysing Y chromosomes from 2121 male volunteers representing 37 surnames. The results suggest that the degree of coancestry within Spanish surnames is highly dependent on surname frequency, in overall agreement with British but not Irish surname studies. Furthermore, a reanalysis of comparative data for all three populations showed that Irish surnames have much greater and older surname descent clusters than Spanish and British ones, suggesting that Irish surnames may have considerably earlier origins than Spanish or British ones. Overall, despite closer geographical ties between Ireland and Britain, our analysis points to substantial similarities in surname origin and development between Britain and Spain, while possibly hinting at unique demographic or social events shaping Irish surname foundation and development.

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Section: Discussionmentioning

confidence: 99%

The relationship between surname frequency and Y chromosome variation in Spain

et al. 2015

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“…32 Assuming a generation time of 28 years for mtDNA, 43 the earliest divergence occurred between the group from Turkey and the other four groups about 11.2-16.8 kya. This event coincides with the second expansion event for the South Caucasus and Iranian groups (Figure 4).…”

Section: Discussionmentioning

confidence: 99%

High-throughput sequencing of complete human mtDNA genomes from the Caucasus and West Asia: high diversity and demographic inferences

Schönberg

Theunert

et al. 2011

Eur J Hum Genet

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To investigate the demographic history of human populations from the Caucasus and surrounding regions, we used highthroughput sequencing to generate 147 complete mtDNA genome sequences from random samples of individuals from three groups from the Caucasus (Armenians, Azeri and Georgians), and one group each from Iran and Turkey. Overall diversity is very high, with 144 different sequences that fall into 97 different haplogroups found among the 147 individuals. Bayesian skyline plots (BSPs) of population size change through time show a population expansion around 40-50 kya, followed by a constant population size, and then another expansion around 15-18 kya for the groups from the Caucasus and Iran. The BSP for Turkey differs the most from the others, with an increase from 35 to 50 kya followed by a prolonged period of constant population size, and no indication of a second period of growth. An approximate Bayesian computation approach was used to estimate divergence times between each pair of populations; the oldest divergence times were between Turkey and the other four groups from the South Caucasus and Iran (B400-600 generations), while the divergence time of the three Caucasus groups from each other was comparable to their divergence time from Iran (average of B360 generations). These results illustrate the value of random sampling of complete mtDNA genome sequences that can be obtained with high-throughput sequencing platforms.

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“…55 Accordingly, the average gen r of this population was estimated to be 0.034 from 400 BC to the present time, assuming 25 years/generation. 56 The calculations were repeated using the gen r value estimated for the last 20 000 years, corresponding to 0.0075. 57 The proportion of MB chromosomes sampled (fc) was first calculated separately for Italy and Germany considering the following parameters: current Italian (60 742 397 inhabitants, http://demo.istat.it/) and German population size (82 438 000 inhabitants, www.destatis.de/); p.Tyr179Cys and p.Gly396Asp allele frequencies in Europeans: 0.3 and 0.7, respectively; 35,42 and the number of chromosomes investigated in the study.…”

Section: Methodsmentioning

confidence: 99%

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

et al. 2013

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MUTYH-associated polyposis (MAP) is an autosomal recessive adenomatous polyposis caused by biallelic germline mutations of the base-excision-repair gene MUTYH. In MAP patients of European origin, the combined allele frequency of the mutations p.Tyr179Cys and p.Gly396Asp ranges between 50 and 82%, while these mutations have not been identified in Far Eastern Asian populations, supporting the hypothesis that a founder effect has occurred at some point in European history. To investigate the natural history of the two common European MUTYH alleles, we genotyped six gene-flanking microsatellite markers in 80 unrelated Italian and German MAP patients segregating one or both mutations and calculated their age in generations (g) by using DMLE þ 2.2 software. Three distinct common haplotypes, one for p.Tyr179Cys and two for p.Gly396Asp, were identified. Estimated mutation ages were 305 g (95% CS: 271-418) for p.Tyr179Cys and 350 g (95% CS: 313-435) for p.Gly396Asp. These results provide evidence for strong founder effects and suggest that the p.Tyr179Cys and p.Gly396Asp mutations derive from ancestors who lived between 5-8 thousand years and 6-9 thousand years B.C., respectively.

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Cross-cultural estimation of the human generation interval for use in genetics-based population divergence studies

Cited by 468 publications

References 44 publications

The relationship between surname frequency and Y chromosome variation in Spain

The relationship between surname frequency and Y chromosome variation in Spain

High-throughput sequencing of complete human mtDNA genomes from the Caucasus and West Asia: high diversity and demographic inferences

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

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