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1.
Front Mol Neurosci ; 16: 1079529, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37575969

RESUMO

Introduction: The pathogenic gene CDH23 plays a pivotal role in tip links, which is indispensable for mechanoelectrical transduction in the hair cells. However, the underlying molecular mechanism and signal regulatory networks that influence deafness is still largely unknown. Methods: In this study, a congenital deafness family, whole exome sequencing revealed a new mutation in the pathogenic gene CDH23, subsequently; the mutation has been validated using Sanger sequencing method. Then CRISPR/Cas9 technology was employed to knockout zebrafish cdh23 gene. Startle response experiment was used to compare with wide-type, the response to sound stimulation between wide-type and cdh23-/-. To further illustrate the molecular mechanisms underlying congenital deafness, comparative transcriptomic profiling and multiple bioinformatics analyses were performed. Results: The YO-PRO-1 assay result showed that in cdh23 deficient embryos, the YO-PRO-1 signal in inner ear and lateral line neuromast hair cells were completely lost. Startle response experiment showed that compared with wide-type, the response to sound stimulation decreased significantly in cdh23 mutant larvae. Comparative transcriptomic showed that the candidate genes such as atp1b2b and myof could affect hearing by regulating ATP production and purine metabolism in a synergetic way with cdh23. RT-qPCR results further confirmed the transcriptomics results. Further compensatory experiment showed that ATP treated cdh23-/- embryos can partially recover the mutant phenotype. Conclusion: In conclusion, our study may shed light on deciphering the principal mechanism and provide a potential therapeutic method for congenital hearing loss under the condition of CDH23 mutation.

2.
Innovation (Camb) ; 4(4): 100445, 2023 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-37305856

RESUMO

The hydrogenation of CO2 to methanol, which is restricted by water products, requires a selective removal of water from the reaction system. Here, we show that physically combining hydrophobic polydivinylbenzene with a copper catalyst supported by silica can increase methanol production and CO2 conversion. Mechanistic investigation reveals that the hydrophobic promoter could hinder the oxidation of copper surface by water, maintaining a small fraction of metallic copper species on the copper surface with abundant Cuδ+, resulting in high activity for the hydrogenation. Such a physically mixed catalyst survives the continuous test for 100 h owing to the thermal stability of the polydivinylbenzene promoter.

3.
Eur J Hum Genet ; 30(6): 740-746, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35217804

RESUMO

Northern Pakistan is home to many diverse ethnicities and languages. The region acted as a prime corridor for ancient invasions and population migrations between Western Eurasia and South Asia. Kho, one of the major ethnic groups living in this region, resides in the remote and isolated mountainous region in the Chitral Valley of the Hindu Kush Mountain range. They are culturally and linguistically distinct from the rest of the Pakistani population groups and their genetic ancestry is still unknown. In this study, we generated genome-wide genotype data of ~1 M loci (Illumina WeGene array) for 116 unrelated Kho individuals and carried out comprehensive analyses in the context of worldwide extant and ancient anatomically modern human populations across Eurasia. The results inferred that the Kho can trace a large proportion of their ancestry to the population who migrated south from the Southern Siberian steppes during the second millennium BCE ~110 generations ago. An additional wave of gene flow from a population carrying East Asian ancestry was also identified in the Kho that occurred ~60 generations ago and may possibly be linked to the expansion of the Tibetan Empire during 7th to 9th centuries CE (current era) in the northwestern regions of the Indian sub-continent. We identified several candidate regions suggestive of positive selection in the Kho, that included genes mainly involved in pigmentation, immune responses, muscular development, DNA repair, and tumor suppression.


Assuntos
Etnicidade , Genética Populacional , Povo Asiático/genética , Etnicidade/genética , Fluxo Gênico , Humanos , Paquistão
4.
Leg Med (Tokyo) ; 54: 101987, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34768042

RESUMO

In kinship tests, the investigating of the forensic STRs usually provides decisive information to resolve relationship cases. We describe a parentage case with 3 genetic incompatibilities (D6S1043, D18S51 and D2S1338) between the child and alleged parent. With 90 STR loci and 100 SNP loci, the massively parallel sequencing (MPS)-based genotyping results support the certainty of parentage, and the mismatched alleles were considered to be mutations. MPS can provide additional allele sequence structures that can be used to infer the origins of the mutations. SNPs as supplementary markers can provide effective information to give an unequivocal statement of the parentage.


Assuntos
Impressões Digitais de DNA , Polimorfismo de Nucleotídeo Único , Criança , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Repetições de Microssatélites/genética , Polimorfismo de Nucleotídeo Único/genética , Análise de Sequência de DNA
5.
Chem Sci ; 12(44): 14660-14673, 2021 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-34820082

RESUMO

Conversion of CO2 into chemicals is a promising strategy for CO2 utilization, but its intricate transformation pathways and insufficient product selectivity still pose challenges. Exploiting new catalysts for tuning product selectivity in CO2 hydrogenation is important to improve the viability of this technology, where reverse water-gas shift (RWGS) and methanation as competitive reactions play key roles in controlling product selectivity in CO2 hydrogenation. So far, a series of metal-based catalysts with adjustable strong metal-support interactions, metal surface structure, and local environment of active sites have been developed, significantly tuning the product selectivity in CO2 hydrogenation. Herein, we describe the recent advances in the fundamental understanding of the two reactions in CO2 hydrogenation, in terms of emerging new catalysts which regulate the catalytic structure and switch reaction pathways, where the strong metal-support interactions, metal surface structure, and local environment of the active sites are particularly discussed. They are expected to enable efficient catalyst design for minimizing the deep hydrogenation and controlling the reaction towards the RWGS reaction. Finally, the potential utilization of these strategies for improving the performance of industrial catalysts is examined.

6.
Am J Hum Biol ; 33(3): e23486, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-32851723

RESUMO

OBJECTIVES: The origin and differentiation of Austronesian populations and their languages have long fascinated linguists, archeologists, and geneticists. However, the founding process of Austronesians and when they separated from their close relatives, such as the Daic and Austro-Asiatic populations in the mainland of Asia, remain unclear. In this study, we explored the paternal origin of Malays in Southeast Asia and the early differentiation of Austronesians. MATERIALS AND METHODS: We generated whole Y-chromosome sequences of 50 Malays and co-analyzed 200 sequences from other Austronesians and related populations. We generated a revised phylogenetic tree with time estimation. RESULTS: We identified six founding paternal lineages among the studied Malays samples. These founding lineages showed a surprisingly coincident expansion age at 5000 to 6000 years ago. We also found numerous mostly close related samples of the founding lineages of Malays among populations from Mainland of Asia. CONCLUSION: Our analyses provided a refined phylogenetic resolution for the dominant paternal lineages of Austronesians found by previous studies. We suggested that the co-expansion of numerous founding paternal lineages corresponds to the initial differentiation of the most recent common ancestor of modern Austronesians. The splitting time and divergence pattern in perspective of paternal Y-chromosome evidence are highly consistent with the previous theories of ethnologists, linguists, and archeologists.


Assuntos
Cromossomos Humanos Y/genética , Pool Gênico , Migração Humana , Herança Paterna , Sudeste Asiático , Humanos , Filogenia
7.
Hum Biol ; 91(4): 257-277, 2020 08 06.
Artigo em Inglês | MEDLINE | ID: mdl-32767896

RESUMO

The Fujian Tanka people are officially classified as a southern Han ethnic group, whereas they have customs similar to Daic and Austronesion people. Whether they originated in Han or Daic people, there is no consensus. Three hypotheses have been proposed to explain the origin of this group: (1) the Han Chinese origin, (2) the ancient Daic origin, (3) and the admixture between Daic and Han. This study addressed this issue by analyzing the paternal Y chromosome and maternal mtDNA variation of 62 Fujian Tanka and 25 neighboring Han in Fujian. The southern East Asian predominant haplogroups (e.g., Y-chromosome O1a1a-P203 and O1b1a1a-M95, and mtDNA F2a, M7c1, and F1a1) had relatively high frequencies in Tanka. The interpopulation comparison revealed that the Tanka have a closer affinity with Daic populations than with Han Chinese in paternal lineages but are closely clustered with southern Han populations such as Hakka and Chaoshanese in maternal lineages. Network and haplotype-sharing analyses also support the admixture hypothesis. The Fujian Tanka mainly originate from the ancient indigenous Daic people and have only limited gene flows from Han Chinese populations. Notably, the divergence time inferred by the Tanka-specific haplotypes indicates that the formation of Fujian Tanka was a least 1033.8-1050.6 years before present (the early Northern Song dynasty), indicating that they are an indigenous population, not late Daic migrants from southwestern China.


Assuntos
Cromossomos Humanos Y/genética , DNA Mitocondrial/genética , Genética Populacional/métodos , Povo Asiático/genética , China/etnologia , DNA Mitocondrial/história , Etnicidade/genética , Feminino , Testes Genéticos/métodos , Haplótipos/genética , História Antiga , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genética
8.
Medicine (Baltimore) ; 99(22): e20372, 2020 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-32481420

RESUMO

The present study investigated the effectiveness of a Carisolv III + 0.5% sodium hypochlorite (NaOCl)-based root canal irrigant for smear layer removal.Forty maxillary incisors were randomly divided into 4 groups (n = 10 per group). The canals in group A (experimental) were prepared with 0.5% NaOCl, and Carisolv III and 0.5% NaOCl was used for the final washing; groups B and C (positive controls) used 2% and 5.25% NaOCl, respectively; and group D (negative control) used phosphate-buffered saline (PBS). Ethylenediaminetetraacetic acid (EDTA) was used for all of the groups. A 5-point scoring scale and scanning electron microscopy were used to evaluate the effectiveness of the irrigants. The canals were consistently cleaner in the coronal and middle thirds than in the apical thirds (P < .05).For cleaning the root canals, 5.25% NaOCl was more effective than 2% NaOCl, 0.5% NaOCl + Carisolv III, and phosphate-buffered saline , respectively (P < .05). The 2% NaOCl solution showed similar results to 0.5% NaOCl + Carisolv III (P > .05). The combination of 5.25% NaOCl and 17% EDTA remains the most effective irrigant for removal of the root canal smear layer.A combination of Carisolv III + 0.5% NaOCl (with 17% EDTA) showed a cleaning ability similar to that of 2% NaOCl (with 17% EDTA).


Assuntos
Ácido Glutâmico/uso terapêutico , Leucina/uso terapêutico , Lisina/uso terapêutico , Irrigantes do Canal Radicular/uso terapêutico , Tratamento do Canal Radicular/métodos , Hipoclorito de Sódio/uso terapêutico , Adulto , Cavidade Pulpar/cirurgia , Feminino , Humanos , Técnicas In Vitro , Incisivo/cirurgia , Masculino , Pessoa de Meia-Idade
9.
J Hum Genet ; 65(9): 797-803, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32313196

RESUMO

Aksay Kazakhs are the easternmost branch of Kazakhs, residing in Jiuquan city, the forefront of the ancient Silk Road. However, the genetic diversity of Aksay Kazakhs and its relationships with other Kazakhs still lack attention. To clarify this issue, we analyzed the non-recombining portion of the Y-chromosome from 93 Aksay Kazakhs samples, using a high-resolution analysis of 106 biallelic markers and 17 STRs. The lowest haplogroup diversity (0.38) was observed in Aksay Kazakhs among all studied Kazakh populations. The social and cultural traditions of the Kazakhs shaped their current pattern of genetic variation. Aksay Kazakhs tended to migrate with clans and had limited paternal admixture with neighboring populations. Aksay Kazakhs had the highest frequency (80%) of haplogroup C2b1a3a1-F3796 (previous C3*-Star Cluster) among the investigated Eurasian steppe populations, which was now seen as the genetic marker of Kerei clan. Furthermore, NETWORK analysis indicated that Aksay Kazakhs originated from sub-clan Kerei-Abakh in Kazakhstan with DYS448 = 23. TMRCA estimates of three recent descent clusters detected in C2*-M217 (xM48) network, one of which incorporate nearly all of the C2b1a3a1-F3796 Aksay Kazakhs samples, gave the age range of 976-1405 YA for DC1, 1059-1314 YA for DC2, and 1139-1317 YA for DC3, respectively; this is coherent with the 7th to the 11th centuries Altaic-speaking pastoral nomadic population expansion.


Assuntos
Povo Asiático/genética , Cromossomos Humanos Y/genética , Etnicidade/genética , China , Marcadores Genéticos , Variação Genética , Genética Populacional , Haplótipos , Humanos , Masculino , Filogenia , Polimorfismo de Nucleotídeo Único
10.
Shanghai Kou Qiang Yi Xue ; 29(5): 487-491, 2020 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-33543214

RESUMO

PURPOSE: In order to achieve accurate and minimally invasive root canal treatment and enhance the fracture resistance of tooth tissue after root canal therapy, this study explores digital guided mediated minimally invasive root canal treatment and compares it with conventional root canal treatment to provide a more favorable method for clinical practice. METHODS: Forty freshly extracted first permanent molars were randomly divided into control group and experimental group. Teeth in the control group were treated with conventional root canal treatment, while teeth in the experimental group were treated with precise minimally invasive root canal treatment. The difference between the time of opening of the pulp chamber and the area of the open pores on the total area of the occlusal surface was compared. Loading test was carried out on the subjects using a universal testing machine, and the fracture resistence of the tooth tissues of the two groups were measured. Statistical analysis was performed using SPSS 24.0 software package. RESULTS: In the control group, the time required for opening the pulp chamber was (1.85±0.05) min, the open pore area was (9.18±0.48)% of the total occlusal area, and the load of the tooth tissue was (1.48±0.07) kN. In the experimental group, the time required was (0.72±0.10) min, the open pore area was (3.53±0.13)% of the total occlusal area, and the load of the tooth tissue was (1.81±0.03) kN. The higher the loading value, the stronger the fracture resistance of the tooth tissue. Compared with traditional root canal treatment, digital guided plate mediated minimally invasive root canal treatment had the advantages of short time, small access cavity and strong fracture resistance of tooth tissue. The difference between the two groups was significant (P<0.01). CONCLUSIONS: Digital guided plate-mediated accurate minimally invasive root canal treatment can reduce the occlusal area, shorten the operation time beside the chair, retain more healthy tooth tissue, enhance the fracture resistance of tooth tissue after root canal treatment, and improve the retention rate of affected teeth.


Assuntos
Fraturas dos Dentes , Dente não Vital , Cavidade Pulpar , Humanos , Dente Molar , Preparo de Canal Radicular , Tratamento do Canal Radicular
11.
J Hum Genet ; 64(8): 775-780, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31148597

RESUMO

The Y-chromosome haplogroup C2b1a3a2-F8951 is the paternal lineage of the Aisin Gioro clan, the most important brother branch of the famous Mongolic-speaking population characteristic haplogroup C2*-Star Cluster (C2b1a3a1-F3796). However, investigations on its internal phylogeny are still limited. In this study, we used whole Y-chromosome sequencing to update its phylogenetic tree. In the revised tree, C2b1a3a2-F8951 and C2*-Star Cluster differentiated 3852 years ago (95% CI = 3295-4497). Approximately 3558 years ago (95% CI = 3013-4144), C2b1a3a2-F8951 was divided into two main subclades, C2b1a3a2a-F14753 and C2b1a3a2b-F5483. Currently, samples of C2b1a3a2-F8951 were mainly from the House of Aisin Gioro clan, the Ao family from Daur and some individuals mainly from northeast China. Although other haplogroups are also found in the Ao family, including C2b1a2-M48, C2b1a3a1-F3796, C2a1b-F845, and N1c-M178, the haplogroup C2b1a3a2-F8951 is still the most distinct genetic component. For haplogroup C2b1a3a2-F8951, the time of the most recent common ancestor of the House of Aisin Gioro clan and the Ao family were both very late, just a few hundred years ago. Some family-specific Y-SNPs of the House of Aisin Gioro and the Ao family were also discovered. This revision evidently improved the resolving power of Y-chromosome phylogeny in northeast Asia, deepening our understanding of the origin of these two families, even the Mongolic-speaking population.


Assuntos
Cromossomos Humanos Y , Etnicidade/genética , Genética Populacional , Locos de Características Quantitativas , Alelos , Povo Asiático/genética , China , Ligação Genética , Haplótipos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Filogenia
12.
J Hum Genet ; 64(8): 815-820, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31164702

RESUMO

Genghis Khan's lineage has attracted both academic and general interest because of its mystery and large influence. However, the truth behind the mystery is complicated and continues to confound the scientific study. In this study, we surveyed the molecular genealogy of Northwestern China's Lu clan who claim to be the descendants of the sixth son of Genghis Khan, Toghan. We also investigated living members of the Huo and Tuo clans, who, according to oral tradition, were close male relatives of Lu clan. Using network analysis, we found that the Y-chromosomal haplotypes of Lu clan mainly belong to haplogroup C2b1a1b1-F1756, widely prevalent in Altaic-speaking populations, and are closely related to the Tore clan from Kazakhstan, who claim to be the descendants of the first son of Genghis Khan, Jochi. The most recent common ancestor of the special haplotype cluster that includes the Lu clan and Tore clan lived about 1000 years ago (YA), while the Huo and Tuo clans do not share any Y lineages with the Lu clan. In addition to the reported lineages, such as C3*-Star Cluster, R1b-M343, and Q, our results indicate that haplogroup C2b1a1b1-F1756 might be another candidate of the true Y lineage of Genghis Khan.


Assuntos
Povo Asiático/genética , Genealogia e Heráldica , Núcleo Familiar , Herança Paterna , China , Cromossomos Humanos Y , Loci Gênicos , Haplótipos , Humanos , Masculino , Filogenia , Polimorfismo de Nucleotídeo Único
13.
Am J Phys Anthropol ; 169(2): 341-347, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30889274

RESUMO

OBJECTIVES: The Hui people are the adherents of Muslim faith and distributing throughout China. There are two contrasting hypotheses about the origin and diversification of the Hui people, namely, the demic diffusion involving the mass movement of people or simple cultural diffusion. MATERIALS AND METHODS: We collected 621 unrelated male individuals from 23 Hui populations all over China. We comprehensively genotyped more than 100 informative Y-chromosomal single nucleotide polymorphisms and 17 Y-chromosomal short tandem repeats (STRs) on those samples. RESULTS: Co-analyzed with published worldwide populations, our results suggest the origin of Hui people has involved massive assimilation of indigenous East Asians with about 70% in total of the paternal ancestry could be traced back to East Asia and the left 30% to various regions in West Eurasia. DISCUSSION: The genetic structure of the extant Hui populations was primarily shaped by the indigenous East Asian populations as they contribute the majority part of the paternal lineages of Hui people. The West Eurasian admixture was probably a sex-biased male-driven process since we have not found such a high proportion of West Eurasian gene flow on autosomal STRs and maternal mtDNA.


Assuntos
Povo Asiático/genética , Cromossomos Humanos Y/genética , Etnicidade/genética , Fluxo Gênico/genética , Islamismo , Antropologia Física , China , Genética Populacional , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genética
14.
Eur J Hum Genet ; 26(11): 1687-1696, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-29991739

RESUMO

The expansion of modern humans to the American continent after the Last Glacial Maximum led the way to the present-day distribution of American aborigines. Recent advances in autosomal DNA research and expanded testing of mtDNA lineages has provided a clearer picture of the number and timing of founding lineages. However, both autosomal DNA and mtDNA research have provided unresolved competing theories between the short-term and the long-term models of the Beringian standstill hypothesis. Further, the source of founding paternal lineages of American aborigines and their relationship with ancient Siberia populations remains ambiguous. In this study, we reanalyzed a 7.0 Mbp region of 132 paternal Y-chromosome sequences, including 39 newly reported ones, of male samples from American aborigines and Eurasian populations. Among Eurasian samples, we identified Y-chromosome branches that are most closely related to known American aborigine founding lineages, that is, Q1-L804 links to Q1-M3, Q1-L330 links to Q1-Z780, Q1-M120 links to Q1-B143, and C2-F1756 links to C2-P39. The revised phylogenetic tree and age estimates indicate a narrow timeframe (~15.3-14.3 kya) for the upper time limit of human entry to the American continent. Our analysis suggests that the in situ differentiation of Q-M242 in Central Eurasia and South Siberia region gave rise to numerous sub-lineages older than 15.3 kya, and the founding of Paleo-Indian paternal lineages is part of the great Q1-L53 diffusion throughout the Eurasia after the Last Glacial Maximum. The results of our study will assist in future studies of the history of modern populations in Eurasia and the Americas.


Assuntos
Cromossomos Humanos Y/genética , Migração Humana , Índios Norte-Americanos/genética , Efeito Fundador , Humanos , América do Norte , Polimorfismo Genético , Sibéria
15.
Mol Genet Genomics ; 293(5): 1293-1300, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29923068

RESUMO

Diffusion of Tibeto-Burman populations across the Tibetan Plateau led to the largest human community in a high-altitude environment and has long been a focus of research on high-altitude adaptation, archeology, genetics, and linguistics. However, much uncertainty remains regarding the origin, diversification, and expansion of Tibeto-Burman populations. In this study, we analyzed a 7.0M bp region of 285 Y-chromosome sequences, including 81 newly reported ones, from male samples from Tibeto-Burman populations and other related Eastern Asian populations. We identified several paternal lineages specific to Tibeto-Burman populations, and most of these lineages emerged between 6000 and 2500 years ago. A phylogenetic tree and lineage dating both support the hypothesis that the establishment of Tibeto-Burman ancestral groups was triggered by Neolithic expansions from the middle Yellow River Basin and admixtures with local populations on the Tibetan Plateau who survived the Paleolithic Age. Furthermore, according to the geographical distributions of the haplogroups, we propose that there are two Neolithic expansion origins for all modern Tibeto-Burman populations. Our research provides a clear scenario about the sources, admixture process and later diffusion process of the ancestor population of all Tibeto-Burman populations.


Assuntos
Adaptação Fisiológica/genética , Altitude , Cromossomos Humanos Y/genética , Genética Populacional , Haplótipos/genética , Humanos , Linguística , Masculino , Mianmar/epidemiologia , Polimorfismo de Nucleotídeo Único/genética , Tibet/epidemiologia
16.
Eur J Hum Genet ; 26(2): 230-237, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29358612

RESUMO

The Y-chromosome haplogroup C3*-Star Cluster (revised to C2*-ST in this study) was proposed to be the Y-profile of Genghis Khan. Here, we re-examined the origin of C2*-ST and its associations with Genghis Khan and Mongol populations. We analyzed 34 Y-chromosome sequences of haplogroup C2*-ST and its most closely related lineage. We redefined this paternal lineage as C2b1a3a1-F3796 and generated a highly revised phylogenetic tree of the haplogroup, including 36 sub-lineages and 265 non-private Y-chromosome variants. We performed a comprehensive analysis and age estimation of this lineage in eastern Eurasia, including 18,210 individuals from 292 populations. We discovered that the origin of populations with high frequencies of C2*-ST can be traced to either an ancient Niru'un Mongol clan or ordinary Mongol tribes. Importantly, the age of the most recent common ancestor of C2*-ST (2576 years, 95% CI = 1975-3178) and its sub-lineages, and their expansion patterns, are consistent with the diffusion of all Mongolic-speaking populations, rather than Genghis Khan himself or his close male relatives. We concluded that haplogroup C2*-ST is one of the founder paternal lineages of all Mongolic-speaking populations, and direct evidence of an association between C2*-ST and Genghis Khan has yet to be discovered.


Assuntos
Povo Asiático/genética , Cromossomos Humanos Y/genética , Evolução Molecular , Efeito Fundador , Haplótipos , Humanos , Masculino
17.
Mol Genet Genomics ; 293(3): 657-663, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29288348

RESUMO

The Y-chromosome haplogroup C2c1a1a1-M407 is a predominant paternal lineage in Mongolic-speaking populations, especially in Buryats and Kalmyks. However, the origin and internal phylogeny of C2c1a1a1-M407 have not been investigated in detail. In this study, we analyzed twenty-three Y-chromosome sequences of haplogroup C2c1a1a1-M407 and its most closely related clades. We generated a high-resolution phylogenetic tree of haplogroup C2c1a1a1-M407 and its upstream clade C2c1a1-CTS2657, including 32 subclades and 144 non-private Y-chromosome polymorphisms. We discover that all available C2c1a1a1-M407 samples from Mongolic-speaking populations belong to its newly defined downstream clade C2c1a1a1b-F8465, whereas all samples of C2c1a1-CTS2657(xF8465) come from northern Han Chinese, Korean, and Japanese. Furthermore, we observe that C2c1a1a1b-F8465 and its subclade C2c1a1a1b1-F8536 expanded at approximately 0.86 and 0.44 thousand years ago, respectively. Therefore, we conclude that C2c1a1a1-M407 in Mongolic-speaking populations has originated from northeastern Asia. C2c1a1a1b1-F8536, the newly defined subclade of C2c1a1a1-M407, probably represents the genetic relationships between ancient Oyrats, modern Kalmyks, Mongolians, and Buryats.


Assuntos
Povo Asiático/etnologia , Cromossomos Humanos Y/genética , Análise de Sequência de DNA/métodos , Povo Asiático/genética , China/etnologia , Genética Populacional , Haplótipos , Humanos , Japão/etnologia , Filogenia , República da Coreia/etnologia
18.
Mol Genet Genomics ; 293(1): 107-117, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28884289

RESUMO

The human Y-chromosome has proven to be a powerful tool for tracing the paternal history of human populations and genealogical ancestors. The human Y-chromosome haplogroup Q is the most frequent haplogroup in the Americas. Previous studies have traced the origin of haplogroup Q to the region around Central Asia and Southern Siberia. Although the diversity of haplogroup Q in the Americas has been studied in detail, investigations on the diffusion of haplogroup Q in Eurasia and Africa are still limited. In this study, we collected 39 samples from China and Russia, investigated 432 samples from previous studies of haplogroup Q, and analyzed the single nucleotide polymorphism (SNP) subclades Q1a1a1-M120, Q1a2a1-L54, Q1a1b-M25, Q1a2-M346, Q1a2a1a2-L804, Q1a2b2-F1161, Q1b1a-M378, and Q1b1a1-L245. Through NETWORK and BATWING analyses, we found that the subclades of haplogroup Q continued to disperse from Central Asia and Southern Siberia during the past 10,000 years. Apart from its migration through the Beringia to the Americas, haplogroup Q also moved from Asia to the south and to the west during the Neolithic period, and subsequently to the whole of Eurasia and part of Africa.


Assuntos
Cromossomos Humanos Y/genética , Genética Populacional , Haplótipos/genética , Migração Humana , Ásia , China , Humanos , Repetições de Microssatélites/genética , Filogenia , Polimorfismo de Nucleotídeo Único , Sibéria
19.
J Hum Genet ; 62(10): 915-918, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28566770

RESUMO

In previous studies, a specific paternal lineage with a null value for the Y-chromosome short tandem repeat (Y-STR) marker DYS448 was identified as common among Mongolic- and Turkic-speaking populations. This paternal lineage (temporarily named C3*-DYS448del) was determined to be M217+, M93-, P39-, M48-, M407-, and P53.1-, and its origin and phylogeny remain ambiguous. Here, we analyzed Y-chromosome sequences of 10 male that are related this paternal lineage and redefined it as C3b1a1a1a-F1756 (C3b-F1756). We generated a highly revised phylogenetic tree of haplogroup C3b-F1756, including 21 sub-clades and 360 non-private Y-chromosome polymorphisms. Additionally, we performed a comprehensive analysis of the C3*-DYS448del lineage in eastern Eurasia, including 18 270 samples from 297 populations. Whole Y-chromosome sequences, Y-STR haplotypes, and frequency data were used to generate a distribution map, a network, and age estimations for lineage C3*-DYS448del and its sub-lineages. Considering the historical records of the studied populations, we propose that two major sub-branches of C3b-F1756 may correspond to early expansions of ancestors of modern Mongolic- and Turkic-speaking populations. The large number of newly defined Y-chromosome polymorphisms and the revised phylogenetic tree for C3b-F1756 will assist in investigation of the early history of Altaic-speaking populations in the future.


Assuntos
Cromossomos Humanos Y , Etnicidade/genética , Haplótipos , Repetições de Microssatélites , Herança Paterna , Filogenia , Locos de Características Quantitativas , Evolução Molecular , Marcadores Genéticos , Humanos , Masculino , Mongólia , Polimorfismo de Nucleotídeo Único , Turquia
20.
World J Gastroenterol ; 23(14): 2601-2612, 2017 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-28465645

RESUMO

AIM: To investigate the expression and clinical pathological significance of ROR2 and WNT5a in gallbladder squamous/adenosquamous carcinoma (SC/ASC) and adenocarcinoma (AC). METHODS: EnVision immunohistochemistry was used to stain for ROR2 and WNT5a in 46 SC/ASC patients and 80 AC patients. RESULTS: Poorly differentiated AC among AC patients aged > 45 years were significantly more frequent compared with SC/ASC patients, while tumors with a maximal diameter > 3 cm in the SC/ASC group were significantly more frequent compared with the AC group. Positive ROR2 and WNT5a expression was significantly lower in SC/ASC or AC with a maximal mass diameter ≤ 3 cm, a TNM stage of I + II, no lymph node metastasis, no surrounding invasion, and radical resection than in patients with a maximal mass diameter > 3 cm, TNM stage IV, lymph node metastasis, surrounding invasion, and no resection. Positive ROR2 expression in patients with highly differentiated SC/ASC was significantly lower than in patients with poorly differentiated SC/ASC. Positive ROR2 and WNT5a expression levels in highly differentiated AC were significantly lower than in poorly differentiated AC. Kaplan-Meier survival analysis showed that differentiation degree, maximal mass diameter, TNM stage, lymph node metastasis, surrounding invasion, surgical procedure and the ROR2 and WNT5a expression levels were closely related to average survival of SC/ASC or AC. The survival of SC/ASC or AC patients with positive expression of ROR2 and WNT5a was significantly shorter than that of patients with negative expression results. Cox multivariate analysis revealed that poor differentiation, a maximal diameter of the mass ≥ 3 cm, TNM stage III or IV, lymph node metastasis, surrounding invasion, unresected surgery and positive ROR2 or WNT5a expression in the SC/ASC or AC patients were negatively correlated with the postoperative survival rate and positively correlated with mortality, which are risk factors and independent prognostic predictors. CONCLUSION: SC/ASC or AC patients with positive ROR2 or WNT5a expression generally have a poor prognosis.


Assuntos
Adenocarcinoma/química , Biomarcadores Tumorais/análise , Carcinoma Adenoescamoso/química , Neoplasias da Vesícula Biliar/química , Receptores Órfãos Semelhantes a Receptor Tirosina Quinase/análise , Proteína Wnt-5a/análise , Adenocarcinoma/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma Adenoescamoso/mortalidade , Carcinoma Adenoescamoso/patologia , Carcinoma Adenoescamoso/cirurgia , Diferenciação Celular , Distribuição de Qui-Quadrado , China , Feminino , Neoplasias da Vesícula Biliar/mortalidade , Neoplasias da Vesícula Biliar/patologia , Neoplasias da Vesícula Biliar/cirurgia , Humanos , Imuno-Histoquímica , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Invasividade Neoplásica , Estadiamento de Neoplasias , Modelos de Riscos Proporcionais , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Regulação para Cima
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