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The ancestry of eastern paraguay: A typical south american profile with a uniqu...

Simão, F; Ribeiro, J; Vullo, C; Catelli, L; Gomes, V; Xavier, C; Huber, G; Bodner, M; Quiroz, A; Ferreira, AP; Carvalho, EF; Parson, W; Gusmão, L

Immigrants from diverse origins have arrived in Paraguay and produced important demographic changes in a territory initially inhabited by indigenous Guarani. Few studies have been performed to estimate the proportion of Native ancestry that is still preserved in Paraguay and the role of females and males in admixture processes. Therefore, 548 individuals from eastern Paraguay were genotyped for three marker set...


Twenty Years Later: A Comprehensive Review of the X Chromosome Use in Forensic ...

Gomes, I; Pinto, N; Antão-Sousa, S; Gomes, V; Gusmão, L; Amorim, A

The unique structure of the X chromosome shaped by evolution has led to the present gender-specific genetic differences, which are not shared by its counterpart, the Y chromosome, and neither by the autosomes. In males, recombination between the X and Y chromosomes is limited to the pseudoautosomal regions, PAR1 and PAR2; therefore, in males, the X chromosome is (almost) entirely transmitted to female offspring...


Searching for the roots of the first free African American community

Martínez, B; Simão, F; Gomes, V; Nguidi, M; Amorim, A; Carvalho, EF; Marrugo, J; Gusmão, L

San Basilio de Palenque is an Afro-descendant community near Cartagena, Colombia, founded in the sixteenth century. The recognition of the historical and cultural importance of Palenque has promoted several studies, namely concerning the African roots of its first inhabitants. To deepen the knowledge of the origin and diversity of the Palenque parental lineages, we analysed a sample of 81 individuals for the en...


Evaluation of the Precision of Ancestry Inferences in South American Admixed Po...

Pereira, V; Santangelo, R; Børsting, C; Tvedebrink, T; Almeida, APF; Carvalho, EF; Morling, N; Gusmão, L

Ancestry informative markers (AIMs) are used in forensic genetics to infer biogeographical ancestry (BGA) of individuals and may also have a prominent role in future police and identification investigations. In the last few years, many studies have been published reporting new AIM sets. These sets include markers (usually around 100 or less) selected with different purposes and different population resolutions....


Genetic admixture patterns in argentinian patagonia

Parolin, M; Toscanini, U; Velázquez, I; Llull, C; Berardi, G; Holley, A; Tamburrini, C; Avena, S; Carnese, F; Lanata, J; Carnero, N; Arce, L; Basso, N

As in other Latin American populations, Argentinians are the result of the admixture amongst different continental groups, mainly from America and Europe, and to a lesser extent from Sub-Saharan Africa. However, it is known that the admixture processes did not occur homogeneously throughout the country. Therefore, considering the importance for anthropological, medical and forensic researches, this study aimed ...


Genes from the TAS1R and TAS2R families of taste receptors: Looking for signatu...

Valente, C; Alvarez, L; Marques, PI; Gusmão, L; Amorim, A; Seixas, S; Prata, MJ

Taste perception is crucial in monitoring food intake and, hence, is thought to play a significant role in human evolution. To gain insights into possible adaptive signatures in genes encoding bitter, sweet, and umami taste receptors, we surveyed the available sequence variation data from the 1000 Genomes Project Phase 3 for TAS1R (TAS1R1-3) and TAS2R (TAS2R16 and TAS2R38) families. Our study demonstrated that ...


Latin Americans show wide-spread Converso ancestry and imprint of local Native ...

Chacón-Duque, J; Adhikari, K; Fuentes-Guajardo, M; Mendoza-Revilla, J; Acuña-Alonzo, V; Barquera, R; Quinto-Sánchez, M; Gómez-Valdés, J

Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the intermixing (admixture) of Native Americans, Europeans and Sub-Saharan Africans. Using novel haplotype-based methods, here we infer sub-continental ancestry in over 6,500 Latin Americans and evaluate the impact of regional ancestry variation on physical appearance. We find that Native American ancestry compo...



Resolving the ancestry of Austronesian-speaking populations

Soares, P; Trejaut, JA; Rito, T; Cavadas, B; Hill, C; Eng, KK; Mormina, M; Brandão, A; Fraser, RM; Wang, T-Y; Loo, J-H; Snell, C; Ko, T-M; Amorim, A

There are two very different interpretations of the prehistory of Island Southeast Asia (ISEA), with genetic evidence invoked in support of both. The "out-of-Taiwan" model proposes a major Late Holocene expansion of Neolithic Austronesian speakers from Taiwan. An alternative, proposing that Late Glacial/postglacial sea-level rises triggered largely autochthonous dispersals, accounts for some otherwise enigmatic...


Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary dif...

Oliveira, C; Sousa, S; Pinheiro, H; Karam, R; Bordeira-Carriço, R; Senz, J; Kaurah, P; Carvalho, J; Pereira, R; Gusmão, L; Wen, X; Cipriano, MA

BACKGROUND & AIMS: Hereditary diffuse gastric cancer (HDGC) families carry CDH1 heterozygous germline mutations; their tumors acquire complete CDH1 inactivation through "2nd-hit" mechanisms. Most frequently, this occurs via promoter hypermethylation (epigenetic modification), and less frequently via CDH1 mutations and loss of heterozygosity (LOH). We quantified the different 2nd hits in CDH1 occurring in neopla...


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