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1.
PLoS One ; 13(8): e0200641, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30067762

RESUMO

The rarity of human remains makes it difficult to apprehend the first settlements in Corsica. It is admitted that initial colonization could have occurred during the Mesolithic period when glaciations would have shortened the open water travel distance from the continent. Mesolithic sites in Corsica show relatively short and irregular occupation, and suggest discontinuous settling of very mobile groups probably traveling by boat. Previous genetic studies on Corsican populations showed internal differentiation and a relatively poor genetic relationship with continental populations, despite intense historical contacts, however local Mesolithic-based genetic inheritance has never been properly estimated. The aim of this study was to explore the Corsican genetic profile of Y-chromosomes in order to trace the genetic signatures back to the first migrations to Corsica. This study included 321 samples from men throughout Corsica; samples from Provence and Tuscany were added to the cohort. All samples were typed for 92 Y-SNPs, and Y-STRs were also analyzed. Results revealed highly differentiated haplogroup patterns among Corsican populations. Haplogroup G had the highest frequency in Corsica, mostly displaying a unique Y-STR profile. When compared with Provence and Tuscany, Corsican populations displayed limited genetic proximity. Corsican populations present a remarkable Y-chromosome genetic mixture. Although the Corsican Y-chromosome profile shows similarities with both Provence and to a lesser extent Tuscany, it mainly displays its own specificity. This study confirms the high level of genetic diversity in Corsican populations and backs genetic contributions from prehistoric migrations associated with the Mesolithic, Neolithic and Metal Age eras, rather than from historical movements to Corsica, respectively attested by frequencies and TMRCA of haplogroups G2a-L91 and G2a-P15, J2a-M241 and J2-DYS445 = 6, R1b-U152 and R1b-U106. These results suggest that marine routes to reach the Corsican coast in many different points may have led to such a genetic heterogeneity.


Assuntos
Cromossomos Humanos Y/genética , Variação Genética , Migração Humana , Cromossomos Humanos Y/classificação , França , Frequência do Gene , Haplótipos , Humanos , Região do Mediterrâneo , Filogenia , Polimorfismo de Nucleotídeo Único , Análise de Componente Principal , População Branca/genética
2.
J AAPOS ; 19(3): 281-4, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25907830

RESUMO

This study evaluated B-scan ultrasound as a technique for assessing glaucoma drainage device (GDD) patency/function in refractory pediatric glaucoma. We retrospectively evaluated 70 eyes of 52 patients after Ahmed (n = 40 eyes), Baerveldt (n = 27 eyes) and Molteno (n = 5 eyes) GDD implantation; 2 eyes each had 2 GDDs. Median age was 6.5 years. Glaucoma diagnoses included primary congenital glaucoma (n = 19) and secondary glaucoma associated with aphakia (n = 16), aniridia (n = 5), Peters anomaly (n = 3), uveitis (n = 2), and other conditions (n = 7). B-scan ultrasound evaluation proved helpful to clinical assessment when the GDD tube was not seen because of opaque corneas (n = 20 eyes), the bleb was not visualized (n = 21 eyes), or IOP was elevated (n = 28 eyes). Ultrasound findings suggesting a nonpatent or malfunctioning GDD were further confirmed by subsequent intraoperative bleb needling (n = 2 eyes) and GDD revision (n = 7 eyes). B-scan ultrasound evaluation can serve as a useful adjunct in evaluating GDD patency/function in selected eyes with refractory pediatric glaucoma and may aid in clinical management.


Assuntos
Segmento Anterior do Olho/diagnóstico por imagem , Implantes para Drenagem de Glaucoma , Glaucoma/cirurgia , Complicações Pós-Operatórias/diagnóstico por imagem , Implantação de Prótese , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Pressão Intraocular , Masculino , Estudos Retrospectivos , Ultrassonografia , Adulto Jovem
3.
Eur J Hum Genet ; 23(1): 124-31, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24667786

RESUMO

R1a-M420 is one of the most widely spread Y-chromosome haplogroups; however, its substructure within Europe and Asia has remained poorly characterized. Using a panel of 16 244 male subjects from 126 populations sampled across Eurasia, we identified 2923 R1a-M420 Y-chromosomes and analyzed them to a highly granular phylogeographic resolution. Whole Y-chromosome sequence analysis of eight R1a and five R1b individuals suggests a divergence time of ∼25,000 (95% CI: 21,300-29,000) years ago and a coalescence time within R1a-M417 of ∼5800 (95% CI: 4800-6800) years. The spatial frequency distributions of R1a sub-haplogroups conclusively indicate two major groups, one found primarily in Europe and the other confined to Central and South Asia. Beyond the major European versus Asian dichotomy, we describe several younger sub-haplogroups. Based on spatial distributions and diversity patterns within the R1a-M420 clade, particularly rare basal branches detected primarily within Iran and eastern Turkey, we conclude that the initial episodes of haplogroup R1a diversification likely occurred in the vicinity of present-day Iran.


Assuntos
Alelos , Cromossomos Humanos Y , Haplótipos , Filogenia , Filogeografia , Ásia , Etnicidade/genética , Europa (Continente) , Evolução Molecular , Frequência do Gene , Ligação Genética , Humanos , Masculino , Repetições de Microssatélites , Polimorfismo de Nucleotídeo Único , Análise Espacial
4.
Nat Commun ; 4: 2928, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24346185

RESUMO

Previous Y-chromosome studies have demonstrated that Ashkenazi Levites, members of a paternally inherited Jewish priestly caste, display a distinctive founder event within R1a, the most prevalent Y-chromosome haplogroup in Eastern Europe. Here we report the analysis of 16 whole R1 sequences and show that a set of 19 unique nucleotide substitutions defines the Ashkenazi R1a lineage. While our survey of one of these, M582, in 2,834 R1a samples reveals its absence in 922 Eastern Europeans, we show it is present in all sampled R1a Ashkenazi Levites, as well as in 33.8% of other R1a Ashkenazi Jewish males and 5.9% of 303 R1a Near Eastern males, where it shows considerably higher diversity. Moreover, the M582 lineage also occurs at low frequencies in non-Ashkenazi Jewish populations. In contrast to the previously suggested Eastern European origin for Ashkenazi Levites, the current data are indicative of a geographic source of the Levite founder lineage in the Near East and its likely presence among pre-Diaspora Hebrews.


Assuntos
Cromossomos Humanos Y , Frequência do Gene , Haplótipos , Judeus/genética , Filogenia , Europa Oriental , Variação Genética , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA
5.
PLoS One ; 8(10): e76748, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24204668

RESUMO

Despite being located at the crossroads of Asia, genetics of the Afghanistan populations have been largely overlooked. It is currently inhabited by five major ethnic populations: Pashtun, Tajik, Hazara, Uzbek and Turkmen. Here we present autosomal from a subset of our samples, mitochondrial and Y- chromosome data from over 500 Afghan samples among these 5 ethnic groups. This Afghan data was supplemented with the same Y-chromosome analyses of samples from Iran, Kyrgyzstan, Mongolia and updated Pakistani samples (HGDP-CEPH). The data presented here was integrated into existing knowledge of pan-Eurasian genetic diversity. The pattern of genetic variation, revealed by structure-like and Principal Component analyses and Analysis of Molecular Variance indicates that the people of Afghanistan are made up of a mosaic of components representing various geographic regions of Eurasian ancestry. The absence of a major Central Asian-specific component indicates that the Hindu Kush, like the gene pool of Central Asian populations in general, is a confluence of gene flows rather than a source of distinctly autochthonous populations that have arisen in situ: a conclusion that is reinforced by the phylogeography of both haploid loci.


Assuntos
Cromossomos Humanos Y/genética , DNA Mitocondrial/genética , Etnicidade/genética , Fluxo Gênico , Afeganistão/etnologia , Análise de Variância , Ásia/etnologia , Povo Asiático/genética , DNA Mitocondrial/química , DNA Mitocondrial/classificação , Europa (Continente)/etnologia , Variação Genética , Genética Populacional/métodos , Geografia , Haplótipos , Humanos , Filogenia , Filogeografia/métodos , Análise de Componente Principal , Análise de Sequência de DNA , População Branca/genética
6.
Science ; 341(6145): 562-5, 2013 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-23908239

RESUMO

The Y chromosome and the mitochondrial genome have been used to estimate when the common patrilineal and matrilineal ancestors of humans lived. We sequenced the genomes of 69 males from nine populations, including two in which we find basal branches of the Y-chromosome tree. We identify ancient phylogenetic structure within African haplogroups and resolve a long-standing ambiguity deep within the tree. Applying equivalent methodologies to the Y chromosome and the mitochondrial genome, we estimate the time to the most recent common ancestor (T(MRCA)) of the Y chromosome to be 120 to 156 thousand years and the mitochondrial genome T(MRCA) to be 99 to 148 thousand years. Our findings suggest that, contrary to previous claims, male lineages do not coalesce significantly more recently than female lineages.


Assuntos
Cromossomos Humanos Y/classificação , Cromossomos Humanos Y/genética , Variação Genética , População Negra/genética , Evolução Molecular , Feminino , Genoma Mitocondrial/genética , Haploidia , Humanos , Masculino , Mutação , Filogenia , Análise de Sequência de DNA , Fatores de Tempo
7.
Eur J Hum Genet ; 20(12): 1275-82, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22588667

RESUMO

Haplogroup G, together with J2 clades, has been associated with the spread of agriculture, especially in the European context. However, interpretations based on simple haplogroup frequency clines do not recognize underlying patterns of genetic diversification. Although progress has been recently made in resolving the haplogroup G phylogeny, a comprehensive survey of the geographic distribution patterns of the significant sub-clades of this haplogroup has not been conducted yet. Here we present the haplogroup frequency distribution and STR variation of 16 informative G sub-clades by evaluating 1472 haplogroup G chromosomes belonging to 98 populations ranging from Europe to Pakistan. Although no basal G-M201* chromosomes were detected in our data set, the homeland of this haplogroup has been estimated to be somewhere nearby eastern Anatolia, Armenia or western Iran, the only areas characterized by the co-presence of deep basal branches as well as the occurrence of high sub-haplogroup diversity. The P303 SNP defines the most frequent and widespread G sub-haplogroup. However, its sub-clades have more localized distribution with the U1-defined branch largely restricted to Near/Middle Eastern and the Caucasus, whereas L497 lineages essentially occur in Europe where they likely originated. In contrast, the only U1 representative in Europe is the G-M527 lineage whose distribution pattern is consistent with regions of Greek colonization. No clinal patterns were detected suggesting that the distributions are rather indicative of isolation by distance and demographic complexities.


Assuntos
Cromossomos Humanos 21-22 e Y/genética , Cromossomos Humanos Y/genética , Filogenia , População Branca/genética , Armênia , Cromossomos Humanos 21-22 e Y/classificação , Cromossomos Humanos Y/classificação , Europa (Continente) , Evolução Molecular , Frequência do Gene , Humanos , Oriente Médio , Polimorfismo de Nucleotídeo Único
8.
BMC Evol Biol ; 11: 69, 2011 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-21401952

RESUMO

BACKGROUND: The process of Greek colonization of the central and western Mediterranean during the Archaic and Classical Eras has been understudied from the perspective of population genetics. To investigate the Y chromosomal demography of Greek colonization in the western Mediterranean, Y-chromosome data consisting of 29 YSNPs and 37 YSTRs were compared from 51 subjects from Provence, 58 subjects from Smyrna and 31 subjects whose paternal ancestry derives from Asia Minor Phokaia, the ancestral embarkation port to the 6th century BCE Greek colonies of Massalia (Marseilles) and Alalie (Aleria, Corsica). RESULTS: 19% of the Phokaian and 12% of the Smyrnian representatives were derived for haplogroup E-V13, characteristic of the Greek and Balkan mainland, while 4% of the Provencal, 4.6% of East Corsican and 1.6% of West Corsican samples were derived for E-V13. An admixture analysis estimated that 17% of the Y-chromosomes of Provence may be attributed to Greek colonization. Using the following putative Neolithic Anatolian lineages: J2a-DYS445 = 6, G2a-M406 and J2a1b1-M92, the data predict a 0% Neolithic contribution to Provence from Anatolia. Estimates of colonial Greek vs. indigenous Celto-Ligurian demography predict a maximum of a 10% Greek contribution, suggesting a Greek male elite-dominant input into the Iron Age Provence population. CONCLUSIONS: Given the origin of viniculture in Provence is ascribed to Massalia, these results suggest that E-V13 may trace the demographic and socio-cultural impact of Greek colonization in Mediterranean Europe, a contribution that appears to be considerably larger than that of a Neolithic pioneer colonization.


Assuntos
Cromossomos Humanos Y/genética , Genética Populacional , França , Grécia , Haplótipos , Humanos , Masculino , Região do Mediterrâneo , Filogenia , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA
9.
Proc Natl Acad Sci U S A ; 108(13): 5154-62, 2011 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-21383195

RESUMO

Africa is inferred to be the continent of origin for all modern human populations, but the details of human prehistory and evolution in Africa remain largely obscure owing to the complex histories of hundreds of distinct populations. We present data for more than 580,000 SNPs for several hunter-gatherer populations: the Hadza and Sandawe of Tanzania, and the ≠Khomani Bushmen of South Africa, including speakers of the nearly extinct N|u language. We find that African hunter-gatherer populations today remain highly differentiated, encompassing major components of variation that are not found in other African populations. Hunter-gatherer populations also tend to have the lowest levels of genome-wide linkage disequilibrium among 27 African populations. We analyzed geographic patterns of linkage disequilibrium and population differentiation, as measured by F(ST), in Africa. The observed patterns are consistent with an origin of modern humans in southern Africa rather than eastern Africa, as is generally assumed. Additionally, genetic variation in African hunter-gatherer populations has been significantly affected by interaction with farmers and herders over the past 5,000 y, through both severe population bottlenecks and sex-biased migration. However, African hunter-gatherer populations continue to maintain the highest levels of genetic diversity in the world.


Assuntos
Evolução Biológica , População Negra/genética , Variação Genética , Genética Populacional , Polimorfismo de Nucleotídeo Único , África , Cultura , Etnicidade/genética , Genoma Humano , Humanos , Desequilíbrio de Ligação
10.
Eur J Hum Genet ; 19(1): 95-101, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20736979

RESUMO

The phylogenetic relationships of numerous branches within the core Y-chromosome haplogroup R-M207 support a West Asian origin of haplogroup R1b, its initial differentiation there followed by a rapid spread of one of its sub-clades carrying the M269 mutation to Europe. Here, we present phylogeographically resolved data for 2043 M269-derived Y-chromosomes from 118 West Asian and European populations assessed for the M412 SNP that largely separates the majority of Central and West European R1b lineages from those observed in Eastern Europe, the Circum-Uralic region, the Near East, the Caucasus and Pakistan. Within the M412 dichotomy, the major S116 sub-clade shows a frequency peak in the upper Danube basin and Paris area with declining frequency toward Italy, Iberia, Southern France and British Isles. Although this frequency pattern closely approximates the spread of the Linearbandkeramik (LBK), Neolithic culture, an advent leading to a number of pre-historic cultural developments during the past ≤10 thousand years, more complex pre-Neolithic scenarios remain possible for the L23(xM412) components in Southeast Europe and elsewhere.


Assuntos
Povo Asiático/genética , Evolução Biológica , Cromossomos Humanos Y/genética , Efeito Fundador , Genética Populacional , População Branca/genética , Emigração e Imigração , Europa (Continente) , Fluxo Gênico , Haplótipos , Humanos , Filogenia
11.
Curr Opin Ophthalmol ; 21(1): 55-9, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19855277

RESUMO

PURPOSE OF REVIEW: Cataract surgery is the most commonly performed intraocular surgery in the pediatric population worldwide. Although the basic surgical techniques have not significantly changed over the last several years, there are many related issues under continual debate and research. These include use of local perioperative anesthesia, capsular management, type and power of intraocular lenses (IOLs), sutured IOLs, and risk of subsequent glaucoma. This review will primarily focus on postsurgical outcomes and IOL-related controversies. RECENT FINDINGS: The just completed Infant Aphakia Treatment Study aims to answer questions regarding visual outcomes with primary IOL implantation versus contact lens use in children less than 7 months old with a unilateral congenital cataract. But correct IOL selection is controversial as recent studies highlight difficulties with biometry measurement and IOL calculations in the entire pediatric population. We also discuss the risk of late suture breakage and dislocation with sutured IOLs and the risks of aphakic glaucoma. SUMMARY: Worldwide experiences with pediatric cataract surgery and IOL implantation are constantly evolving. Expectations of good outcomes by the patients, families, and surgeons are also increasing therefore continued efforts to improve techniques and formulas specific to the pediatric population are critical.


Assuntos
Extração de Catarata , Catarata/congênito , Implante de Lente Intraocular , Anestesia/métodos , Afacia Pós-Catarata/etiologia , Afacia Pós-Catarata/terapia , Humanos , Lactente , Pseudofacia/etiologia , Pseudofacia/terapia , Erros de Refração/prevenção & controle
12.
Eur J Hum Genet ; 18(3): 348-53, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19826455

RESUMO

Haplogroup J1 is a prevalent Y-chromosome lineage within the Near East. We report the frequency and YSTR diversity data for its major sub-clade (J1e). The overall expansion time estimated from 453 chromosomes is 10,000 years. Moreover, the previously described J1 (DYS388=13) chromosomes, frequently found in the Caucasus and eastern Anatolian populations, were ancestral to J1e and displayed an expansion time of 9000 years. For J1e, the Zagros/Taurus mountain region displays the highest haplotype diversity, although the J1e frequency increases toward the peripheral Arabian Peninsula. The southerly pattern of decreasing expansion time estimates is consistent with the serial drift and founder effect processes. The first such migration is predicted to have occurred at the onset of the Neolithic, and accordingly J1e parallels the establishment of rain-fed agriculture and semi-nomadic herders throughout the Fertile Crescent. Subsequently, J1e lineages might have been involved in episodes of the expansion of pastoralists into arid habitats coinciding with the spread of Arabic and other Semitic-speaking populations.


Assuntos
Árabes/genética , Cromossomos Humanos Y/genética , Etnicidade/genética , Genética Populacional , Haplótipos/genética , Idioma , Loci Gênicos/genética , Geografia , Humanos , Repetições de Microssatélites/genética
13.
Eur J Hum Genet ; 18(4): 479-84, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19888303

RESUMO

Human Y-chromosome haplogroup structure is largely circumscribed by continental boundaries. One notable exception to this general pattern is the young haplogroup R1a that exhibits post-Glacial coalescent times and relates the paternal ancestry of more than 10% of men in a wide geographic area extending from South Asia to Central East Europe and South Siberia. Its origin and dispersal patterns are poorly understood as no marker has yet been described that would distinguish European R1a chromosomes from Asian. Here we present frequency and haplotype diversity estimates for more than 2000 R1a chromosomes assessed for several newly discovered SNP markers that introduce the onset of informative R1a subdivisions by geography. Marker M434 has a low frequency and a late origin in West Asia bearing witness to recent gene flow over the Arabian Sea. Conversely, marker M458 has a significant frequency in Europe, exceeding 30% in its core area in Eastern Europe and comprising up to 70% of all M17 chromosomes present there. The diversity and frequency profiles of M458 suggest its origin during the early Holocene and a subsequent expansion likely related to a number of prehistoric cultural developments in the region. Its primary frequency and diversity distribution correlates well with some of the major Central and East European river basins where settled farming was established before its spread further eastward. Importantly, the virtual absence of M458 chromosomes outside Europe speaks against substantial patrilineal gene flow from East Europe to Asia, including to India, at least since the mid-Holocene.


Assuntos
Povo Asiático/genética , Evolução Biológica , Cromossomos Humanos Y/genética , Genética Populacional , Haplótipos/genética , População Branca/genética , Etnicidade , Fluxo Gênico , Humanos , Masculino , Polimorfismo Genético
14.
Croat Med J ; 50(3): 239-49, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19480020

RESUMO

AIM: To determine the human Y-chromosome haplogroup backgrounds of intermediate-sized variant alleles displayed by short tandem repeat (STR) loci DYS392, DYS449, and DYS385, and to evaluate the potential of each intermediate variant to elucidate new phylogenetic substructure within the human Y-chromosome haplogroup tree. METHODS: Molecular characterization of lineages was achieved using a combination of Y-chromosome haplogroup defining binary polymorphisms and up to 37 short tandem repeat loci. DNA sequencing and median-joining network analyses were used to evaluate Y-chromosome lineages displaying intermediate variant alleles. RESULTS: We show that DYS392.2 occurs on a single haplogroup background, specifically I1*-M253, and likely represents a new phylogenetic subdivision in this European haplogroup. Intermediate variants DYS449.2 and DYS385.2 both occur on multiple haplogroup backgrounds, and when evaluated within specific haplogroup contexts, delineate new phylogenetic substructure, with DYS449.2 being informative within haplogroup A-P97 and DYS385.2 in haplogroups D-M145, E1b1a-M2, and R1b*-M343. Sequence analysis of variant alleles observed within the various haplogroup backgrounds showed that the nature of the intermediate variant differed, confirming the mutations arose independently. CONCLUSIONS: Y-chromosome short tandem repeat intermediate variant alleles, while relatively rare, typically occur on multiple haplogroup backgrounds. This distribution indicates that such mutations arise at a rate generally intermediate to those of binary markers and STR loci. As a result, intermediate-sized Y-STR variants can reveal phylogenetic substructure within the Y-chromosome phylogeny not currently detected by either binary or Y-STR markers alone, but only when such variants are evaluated within a haplogroup context.


Assuntos
Cromossomos Humanos Y/genética , Repetições de Microssatélites/genética , Filogenia , Haplótipos , Humanos , Análise de Sequência de DNA
15.
Proc Natl Acad Sci U S A ; 105(31): 10693-8, 2008 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-18678889

RESUMO

Although geneticists have extensively debated the mode by which agriculture diffused from the Near East to Europe, they have not directly examined similar agropastoral diffusions in Africa. It is unclear, for example, whether early instances of sheep, cows, pottery, and other traits of the pastoralist package were transmitted to southern Africa by demic or cultural diffusion. Here, we report a newly discovered Y-chromosome-specific polymorphism that defines haplogroup E3b1f-M293. This polymorphism reveals the monophyletic relationship of the majority of haplotypes of a previously paraphyletic clade, E3b1-M35*, that is widespread in Africa and southern Europe. To elucidate the history of the E3b1f haplogroup, we analyzed this haplogroup in 13 populations from southern and eastern Africa. The geographic distribution of the E3b1f haplogroup, in association with the microsatellite diversity estimates for populations, is consistent with an expansion through Tanzania to southern-central Africa. The data suggest this dispersal was independent of the migration of Bantu-speaking peoples along a similar route. Instead, the phylogeography and microsatellite diversity of the E3b1f lineage correlate with the arrival of the pastoralist economy in southern Africa. Our Y-chromosomal evidence supports a demic diffusion model of pastoralism from eastern to southern Africa approximately 2,000 years ago.


Assuntos
Agricultura/história , Cromossomos Humanos Y/genética , Demografia , Emigração e Imigração/história , Genética Populacional , Cromatografia Líquida de Alta Pressão , Genótipo , Haplótipos/genética , História Antiga , Humanos , Masculino , Repetições de Microssatélites/genética , Modelos Genéticos , Polimorfismo de Nucleotídeo Único/genética , Tanzânia
16.
Croat Med J ; 48(4): 450-9, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17696299

RESUMO

AIM: To determine the human Y-chromosome haplogroup backgrounds of non-consensus DYS458.2 short tandem repeat alleles and evaluate their phylogenetic substructure and frequency in representative samples from the Middle East, Europe, and Pakistan. METHODS: Molecular characterization of lineages was achieved using a combination of Y-chromosome haplogroup defining binary polymorphisms and up to 37 short tandem repeat loci, including DYS388 to construct haplotypes. DNA sequencing of the DYS458 locus and median-joining network analyses were used to evaluate Y-chromosome lineages displaying the DYS458.2 motif. RESULTS: We showed that the DYS458.2 allelic innovation arose independently on at least two distinctive binary haplogroup backgrounds and possibly a third as well. The partial allele length pattern was fixed in all haplogroup J1 chromosomes examined, including its known rare sub-haplogroups. Within the alternative R1b3 associated M405 defined sub-haplogroup, both DYS458.0 and DYS458.2 allele classes occurred. A single chromosome also allocated to the R1b3-M269*(xM405) classification. The physical position of the partial insertion/deletion occurrence within the normal tetramer tract differed distinctly in each haplogroup context. CONCLUSIONS: While unusual DYS458.2 alleles are informative, additional information for other linked polymorphic loci is required when using such non-conforming alleles to infer haplogroup background and common ancestry.


Assuntos
Cromossomos Humanos Y/genética , Frequência do Gene , Haplótipos , Repetições de Microssatélites , Alelos , Europa (Continente) , Genética Populacional , Humanos , Paquistão , Mutação Puntual , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA , Turquia
17.
J Mol Evol ; 65(2): 154-61, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17665087

RESUMO

NYD-SP12 is a recently identified spermatogenesis-related gene with a pivotal role in human testis development. In this study, we analyzed between-species divergence and within-species variation of NYD-SP12 in seven representative primate species, four worldwide human populations, and 124 human clinical subjects. Our results indicate that NYD-SP12 evolves rapidly in both the human and the chimpanzee lineages, which is likely caused by Darwinian positive selection and/or sexual selection. We observed significant interpopulation divergence among human populations, which might be due to the varied demographic histories. In the association analysis, we demonstrated significant frequency discrepancy of a synonymous sequence polymorphism among the clinical groups with different sperm traits.


Assuntos
Evolução Molecular , Variação Genética , Proteínas de Homeodomínio/genética , Espermatogênese/genética , Sequência de Aminoácidos , Animais , Frequência do Gene , Humanos , Dados de Sequência Molecular , Pan troglodytes/genética , Polimorfismo Genético , Primatas/genética , Seleção Genética , Proteínas de Transporte Vesicular
18.
Proc Natl Acad Sci U S A ; 104(21): 8726-30, 2007 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-17496137

RESUMO

Published and new samples of Aboriginal Australians and Melanesians were analyzed for mtDNA (n=172) and Y variation (n=522), and the resulting profiles were compared with the branches known so far within the global mtDNA and the Y chromosome tree. (i) All Australian lineages are confirmed to fall within the mitochondrial founder branches M and N and the Y chromosomal founders C and F, which are associated with the exodus of modern humans from Africa approximately 50-70,000 years ago. The analysis reveals no evidence for any archaic maternal or paternal lineages in Australians, despite some suggestively robust features in the Australian fossil record, thus weakening the argument for continuity with any earlier Homo erectus populations in Southeast Asia. (ii) The tree of complete mtDNA sequences shows that Aboriginal Australians are most closely related to the autochthonous populations of New Guinea/Melanesia, indicating that prehistoric Australia and New Guinea were occupied initially by one and the same Palaeolithic colonization event approximately 50,000 years ago, in agreement with current archaeological evidence. (iii) The deep mtDNA and Y chromosomal branching patterns between Australia and most other populations around the Indian Ocean point to a considerable isolation after the initial arrival. (iv) We detect only minor secondary gene flow into Australia, and this could have taken place before the land bridge between Australia and New Guinea was submerged approximately 8,000 years ago, thus calling into question that certain significant developments in later Australian prehistory (the emergence of a backed-blade lithic industry, and the linguistic dichotomy) were externally motivated.


Assuntos
Cromossomos Humanos Y/genética , DNA Mitocondrial/análise , DNA Mitocondrial/genética , Emigração e Imigração/história , Filogenia , África , Austrália , História Antiga , Humanos , Masculino , Dados de Sequência Molecular , Nova Guiné
19.
Eur J Hum Genet ; 15(2): 204-11, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17149388

RESUMO

A large part of Y chromosome lineages in East European and East Asian human populations belong to haplogroup (hg) NO, which is composed of two sister clades N-M231 and O-M175. The O-clade is relatively old (around 30 thousand years (ky)) and encompasses the vast majority of east and Southeast Asian male lineages, as well as significant proportion of those in Oceanian males. On the other hand, our detailed analysis of hg N suggests that its high frequency in east Europe is due to its more recent expansion westward on a counter-clock northern route from inner Asia/southern Siberia, approximately 12-14 ky ago. The widespread presence of hg N in Siberia, together with its absence in Native Americans, implies its spread happened after the founder event for the Americas. The most frequent subclade N3, arose probably in the region of present day China, and subsequently experienced serial bottlenecks in Siberia and secondary expansions in eastern Europe. Another branch, N2, forms two distinctive subclusters of STR haplotypes, Asian (N2-A) and European (N2-E), the latter now mostly distributed in Finno-Ugric and related populations. These phylogeographic patterns provide evidence consistent with male-mediated counter-clockwise late Pleistocene-Holocene migratory trajectories toward Northwestern Europe from an ancestral East Asian source of Paleolithic heritage.


Assuntos
Cromossomos Humanos Y/classificação , Cromossomos Humanos Y/genética , Genética Populacional , Haplótipos , Sudeste Asiático , Europa Oriental , Humanos , Masculino , Filogenia , Análise de Sequência de DNA
20.
Mol Biol Evol ; 23(11): 2234-44, 2006 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16923821

RESUMO

The human settlement of the Pacific Islands represents one of the most recent major migration events of mankind. Polynesians originated in Asia according to linguistic evidence or in Melanesia according to archaeological evidence. To shed light on the genetic origins of Polynesians, we investigated over 400 Polynesians from 8 island groups, in comparison with over 900 individuals from potential parental populations of Melanesia, Southeast and East Asia, and Australia, by means of Y chromosome (NRY) and mitochondrial DNA (mtDNA) markers. Overall, we classified 94.1% of Polynesian Y chromosomes and 99.8% of Polynesian mtDNAs as of either Melanesian (NRY-DNA: 65.8%, mtDNA: 6%) or Asian (NRY-DNA: 28.3%, mtDNA: 93.8%) origin, suggesting a dual genetic origin of Polynesians in agreement with the "Slow Boat" hypothesis. Our data suggest a pronounced admixture bias in Polynesians toward more Melanesian men than women, perhaps as a result of matrilocal residence in the ancestral Polynesian society. Although dating methods are consistent with somewhat similar entries of NRY/mtDNA haplogroups into Polynesia, haplotype sharing suggests an earlier appearance of Melanesian haplogroups than those from Asia. Surprisingly, we identified gradients in the frequency distribution of some NRY/mtDNA haplogroups across Polynesia and a gradual west-to-east decrease of overall NRY/mtDNA diversity, not only providing evidence for a west-to-east direction of Polynesian settlements but also suggesting that Pacific voyaging was regular rather than haphazard. We also demonstrate that Fiji played a pivotal role in the history of Polynesia: humans probably first migrated to Fiji, and subsequent settlement of Polynesia probably came from Fiji.


Assuntos
Cromossomos Humanos Y , DNA Mitocondrial/genética , Heterogeneidade Genética , Marcadores Genéticos , Tempo , Análise por Conglomerados , Emigração e Imigração , Feminino , Haplótipos , Humanos , Masculino , Melanesia/etnologia , Ilhas do Pacífico , Filogenia , Polinésia/etnologia
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