Genetic heritage of Croatians in the Southeastern European gene pool—Y chromosome analysis of the Croatian continental and Island population

Šarac, Jelena; Šarić, Tena; Auguštin, Dubravka Havaš; Novokmet, Natalija; Vekarić, Nenad; Mustać, Mate; Grahovac, Blaženka; Kapović, Miljenko; Nevajda, Branimir; Glasnović, Anton; Missoni, Saša; Rootsi, Siiri; Rudan, Pavao

doi:10.1002/ajhb.22876

Cited by 16 publications

(37 citation statements)

References 43 publications

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“…The available data indicate that the frequency of I-M170 is over 70% in Herzegovina, approximately 50% in central and eastern regions of BiH, approximately 35% in the north of BiH, 63% in Dubrovnik and 38% in Montenegro [6–10]. The global peak of I-M170 frequencies was documented among Croats in Herzegovina (73.3%; 71.1% I2a1-P37.2) [8].…”

Section: Introductionmentioning

confidence: 99%

The mountains of giants: an anthropometric survey of male youths in Bosnia and Herzegovina

et al. 2017

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The aim of this anthropometric survey, conducted between 2015 and 2016 in Bosnia and Herzegovina (BiH), was to map local geographical differences in male stature and some other anthropometric characteristics (sitting height, arm span). In addition, to investigate the main environmental factors influencing physical growth, the documented values of height would be compared with available nutritional and socioeconomic statistics. Anthropometric data were collected in 3192 boys aged approximately 18.3 years (17–20 years), from 97 schools in 37 towns. When corrected for population size in the examined regions, the average height of young males in BiH is 181.2 cm (181.4 cm in the Bosniak-Croat Federation, 180.9 cm in Republika Srpska). The regional variation is considerable—from 179.7 cm in the region of Doboj to 184.5 cm in the region of Trebinje. These results fill a long-term gap in the anthropological research of the Western Balkans and confirm older reports that the population of the Dinaric Alps is distinguished by extraordinary physical stature. Together with the Dutch, Montenegrins and Dalmatians, men from Herzegovina (183.4 cm) can be regarded as the tallest in the world. Because both nutritional standards and socioeconomic conditions are still deeply suboptimal, the most likely explanation of this exceptional height lies in specific genetic factors associated with the spread of Y haplogroup I-M170. The genetic potential for height in this region could then be the greatest in the world. Future studies should further elucidate the roots of this intriguing phenomenon, which touches an important aspect of human biodiversity.

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Section: Introductionmentioning

confidence: 99%

The mountains of giants: an anthropometric survey of male youths in Bosnia and Herzegovina

et al. 2017

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“…In the course of identifying carriers we established by junction PCR that the ePAR was present within the two sister I2a sub-lineages I-L1286 and I-L1294, both of which occur predominantly within Northwestern Europe, but was absent from two Hungarian males within the I-M423 sub-haplogroup as determined by resequencing of 3.7 Mb of Y-specific DNA [ 66 ] (see S3B Fig ). The majority of I-P37.2 men belong to the sub-lineage I-M423, which is predominantly found within Southeastern Europe, and rarely encountered in Northwestern Europe [ 67 ], hence its probable absence from the dataset tested by Mensah et al . So, whilst we would expect to find haplogroup-I2a ePAR carriers at a frequency of approximately 1% among Northwest European men as originally reported [ 11 ], we would expect only a minority of I2a men in Southwest Europe to be carriers of the ePAR.…”

Section: Discussionmentioning

confidence: 99%

Recombination hotspots in an extended human pseudoautosomal domain predicted from double-strand break maps and characterized by sperm-based crossover analysis

et al. 2018

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The human X and Y chromosomes are heteromorphic but share a region of homology at the tips of their short arms, pseudoautosomal region 1 (PAR1), that supports obligate crossover in male meiosis. Although the boundary between pseudoautosomal and sex-specific DNA has traditionally been regarded as conserved among primates, it was recently discovered that the boundary position varies among human males, due to a translocation of ~110 kb from the X to the Y chromosome that creates an extended PAR1 (ePAR). This event has occurred at least twice in human evolution. So far, only limited evidence has been presented to suggest this extension is recombinationally active. Here, we sought direct proof by examining thousands of gametes from each of two ePAR-carrying men, for two subregions chosen on the basis of previously published male X-chromosomal meiotic double-strand break (DSB) maps. Crossover activity comparable to that seen at autosomal hotspots was observed between the X and the ePAR borne on the Y chromosome both at a distal and a proximal site within the 110-kb extension. Other hallmarks of classic recombination hotspots included evidence of transmission distortion and GC-biased gene conversion. We observed good correspondence between the male DSB clusters and historical recombination activity of this region in the X chromosomes of females, as ascertained from linkage disequilibrium analysis; this suggests that this region is similarly primed for crossover in both male and female germlines, although sex-specific differences may also exist. Extensive resequencing and inference of ePAR haplotypes, placed in the framework of the Y phylogeny as ascertained by both Y microsatellites and single nucleotide polymorphisms, allowed us to estimate a minimum rate of crossover over the entire ePAR region of 6-fold greater than genome average, comparable with pedigree estimates of PAR1 activity generally. We conclude ePAR very likely contributes to the critical crossover function of PAR1.

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“…All we can say at the moment is that North European populations carrying high frequencies of I-M170 indeed do carry single nucleotide polymorphisms (SNPs) associated with tall stature (Robinson et al, 2015). Remarkably, regional data on I-M170 frequencies from Herzegovina, Bosnia, the Zadar county in Dalmatia and Dubrovnik (Peričić et al, 2005;Šarac et al, 2016) fit the relationship between height and I-M170 at the country level, although height is still lower than expected, especially in the case of the Zadar county. This can be explained by the very small size of the Zadar genetic sample (n=25).…”

Section: S1-s4mentioning

confidence: 99%

The coast of giants: An anthropometric survey of high schoolers on the Adriatic coast of Croatia

Grasgruber

Prce²,

Stračárová

et al. 2017

Preprint

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Genetic heritage of Croatians in the Southeastern European gene pool—Y chromosome analysis of the Croatian continental and Island population

Cited by 16 publications

References 43 publications

The mountains of giants: an anthropometric survey of male youths in Bosnia and Herzegovina

The mountains of giants: an anthropometric survey of male youths in Bosnia and Herzegovina

Recombination hotspots in an extended human pseudoautosomal domain predicted from double-strand break maps and characterized by sperm-based crossover analysis

The coast of giants: An anthropometric survey of high schoolers on the Adriatic coast of Croatia

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