Brief communication: Restricted geographic distribution for Y‐Q* paragroup in South America

Bailliet, Graciela; Ramallo, Virgínia; Muzzio, Marina; García, Angelina; Santos, Maria Rita de Morais Chaves; Alfaro, Emma; Dipierri, José Edgardo; Salceda, Susana Alicia; Carnese, Francisco R.; Bravi, Cláudio M.; Bianchi, Néstor O.; Demarchi, Darío Alfredo

doi:10.1002/ajpa.21133

Cited by 49 publications

(74 citation statements)

References 23 publications

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“…However, normozoospermic and fertile controls were predominantly from the Metropolitan region or from Santiago (99 % and 96 %, respectively). [2,5,18,22,23,40,46]. Several studies based on DNA mitochondrial and autosomal microsatellite markers are consistent with a founder effect occurring within the North American subcontinent, before the peopling of Central and South America [30,42].…”

Section: Resultsmentioning

confidence: 77%

Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case–control study

Lardone

Marengo

Parada-Bustamante

et al. 2013

J Assist Reprod Genet

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Purpose To determine the prevalence of South Amerindian Y chromosome in Chilean patients with spermatogenic failure and their association with classical and/or AZFc-partial Y chromosome deletions. Methods We studied 400 men, 218 with secretory azo/oligozoospermia (cases) and 182 controls (116 fertile and/or normozoospermic, and 66 azoospermic with normal spermatogenesis). After a complete testicular characterization (physical evaluation, hormonal and/or biopsy) peripheral blood was drawn to obtain DNA for Y chromosome microdeletions, AZFc-partial deletions and biallelic analysis by allele specific polymerase chain reaction (PCR) of the M3 (rs3894) single nucleotide polymorphism (SNP). Results Classical AZF microdeletions were found in 23 cases (Y-microdeleted). AZFc-partial deletions were observed in 10 cases (6 "gr/gr", 3 "b2/b3" and 1 "b1/b3") and 4 controls (4 "gr/gr"). The AZFc-partial deletions were mainly associated with the absence of DAZ1/DAZ2 (64 %). No significant differences in the prevalence of AZFc-partial deletions were observed between cases and controls. We observed a significant higher proportion of the Q1a3a haplogroup in Y-microdeleted men compared to patients with spermatogenic failure without deletions and control men (P<0.01 and P<0.05, respectively by Bonferroni test). Among them, patients with AZFb deletions had an increased prevalence of the Q1a3a haplogroup compared to controls, cases without deletions and to those with complete or partial-AZFc deletions (P<0.01, Bonferroni test). Conclusions The Q1a3a South Amerindian lineage seems to increase the susceptibility to non AZFc microdeletions. On the other hand, in Chilean population the AZFc-partial deletions ("gr/gr", "b1/b3" and/or "b2/b3") does not seem to predispose to severe spermatogenic impairment.

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Section: Resultsmentioning

confidence: 77%

Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case–control study

Lardone

Marengo

Parada-Bustamante

et al. 2013

J Assist Reprod Genet

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“…Interestingly, two samples in the HS Yanesha display the basal M346-Q1a3* mutation but not the downstream M3-Q1a3a1 marker. This pattern is very rare in South America (Bailliet et al, 2009). One individual from the IS Yanesha belongs to haplogroup M2-E1b1a* which is more common in subSaharan Africa (De Filippo et al, 2011).…”

Section: Results Y Chromosomementioning

confidence: 99%

BetweenAndes andAmazon: The genetic profile of theArawak‐speakingYanesha

Barbieri

Heggarty

Yao

et al. 2014

American J Phys Anthropol

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The Yanesha are a Peruvian population who inhabit an environment transitional between the Andes and Amazonia. They present cultural traits characteristic of both regions, including in the language they speak: Yanesha belongs to the Arawak language family (which very likely originated in the Amazon/Orinoco lowlands), but has been strongly influenced by Quechua, the most widespread language family of the Andes. Given their location and cultural make-up, the Yanesha make for an ideal case study for investigating language and population dynamics across the Andes-Amazonia divide.In this study, we analyze data from high and mid-altitude Yanesha villages, both Y chromosome (17 STRs and 16 SNPs diagnostic for assigning haplogroups) and mtDNA data (control region sequences and 3 SNPs and one INDEL diagnostic for assigning haplogroups). We uncover sex-biased genetic trends that probably arose in different stages: first, a male-biased gene flow from Andean regions, genetically consistent with highland Quechua-speakers and probably dating back to Inca expansion; and second, traces of European contact consistent with Y chromosome lineages from Italy and Tyrol, in line with historically documented migrations. Most research in the history, archaeology and linguistics of South America has long been characterized by perceptions of a sharp divide between the Andes and Amazonia; our results serve as a clear case-study confirming demographic flows across that 'divide'. Am J Phys Anthropol 155:600-609,

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“…Q1a3a2 has been found mostly in indigenous populations of the northern Amazonian regions (Bortolini et al, 2003) while there is no detailed information for the distributions of both other Q1a3a groups. Haplogroup Q * upstream to Q1a3a * is the second most frequent group while C * was found only in very few indigenous South American individuals on the northern coast (Bortolini et al, 2003;Bailliet et al, 2009).…”

Section: Y-chromosomal Haplogroup Analysismentioning

confidence: 94%

Diachronic Investigations of Mitochondrial and Y-Chromosomal Genetic Markers in Pre-Columbian Andean Highlanders from South Peru

Fehren‐Schmitz¹,

Warnberg²,

Reindel

et al. 2010

Annals of Human Genetics

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SummaryThis study examines the reciprocal effects of cultural evolution, and population dynamics in pre-Columbian southern Peru by the analysis of DNA from pre-Columbian populations that lived in the fringe area between the Andean highlands and the Pacific coast. The main objective is to reveal whether the transition from the Middle Horizon (MH: 650-1000 AD) to the Late Intermediate Period (LIP: 1000-1400 AD) was accompanied or influenced by population dynamic processes. Tooth samples from 90 individuals from several archaeological sites, dating to the MH and LIP, in the research area were collected to analyse mitochodrial, and Y-chromosomal genetic markers. Coding region polymorphisms were successfully analysed and replicated for 72 individuals, as were control region sequences for 65 individuals and Ychromosomal single nucleotide polymorphisms (SNPs) for 19 individuals, and these were compared to a large set of ancient and modern indigenous South American populations. The diachronic comparison of the upper valley samples from both time periods reveals no genetic discontinuities accompanying the cultural dynamic processes. A high genetic affinity for other ancient and modern highland populations can be observed, suggesting genetic continuity in the Andean highlands at the latest from the MH. A significant matrilineal differentiation to ancient Peruvian coastal populations can be observed suggesting a differential population history.

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Brief communication: Restricted geographic distribution for Y‐Q* paragroup in South America

Cited by 49 publications

References 23 publications

Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case–control study

Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case–control study

BetweenAndes andAmazon: The genetic profile of theArawak‐speakingYanesha

Diachronic Investigations of Mitochondrial and Y-Chromosomal Genetic Markers in Pre-Columbian Andean Highlanders from South Peru

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