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2. Human Y-chromosome SNP characterization by multiplex amplified product-length polymorphism analysis

Author

Jurado Medina, Laura Smeldy, Muzzio, Marina, Schwab, Marisol Elisabet, Bravi Costantino, Maria Leticia, Barreto, Guillermo, and Bailliet, Graciela

Subjects
Ciencias Biológicas, Y chromosome, Otras Ciencias Biológicas, SNP, South America, APLP, CIENCIAS NATURALES Y EXACTAS
Abstract

We designed an allele-specific amplification protocol to optimize Y-chromosome SNP typing, which is an unavoidable step for defining the phylogenetic status of paternal lineages. It allows the simultaneous highly specific definition of up to six mutations in a single reaction by amplification fragment length polymorphism (AFLP) without the need of specialized equipment, at a considerably lower cost than that based on single-base primer extension (SNaPshot™) technology or PCR-RFLP systems, requiring as little as 0.5 ng DNA and compatible with the small fragments characteristic of low-quality DNA. By designation of two primers recognizing the derived and ancestral state for each SNP, which can be differentiated by size by the addition of a noncomplementary nucleotide tail, we could define major Y clades E, F, K, R, Q, and subhaplogroups R1, R1a, R1b, R1b1b, R1b1c, J1, J2, G1, G2, I1, Q1a3, and Q1a3a1 through amplification fragments that ranged between 60 and 158bp. Fil: Jurado Medina, Laura Smeldy. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Muzzio, Marina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina. Universidad Nacional de La Plata. Facultad de Ciencias Naturales y Museo; Argentina Fil: Schwab, Marisol Elisabet. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Bravi Costantino, Maria Leticia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Barreto, Guillermo. Universidad del Valle. Fundación Samanea; Colombia Fil: Bailliet, Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina

Published
2014

3. Population structure in Argentina.

Author

Muzzio, Marina, Motti, Josefina M. B., Paz Sepulveda, Paula B., Yee, Muh-ching, Cooke, Thomas, Santos, María R., Ramallo, Virginia, Alfaro, Emma L., Dipierri, Jose E., Bailliet, Graciela, Bravi, Claudio M., Bustamante, Carlos D., and Kenny, Eimear E.

Subjects
*POPULATION biology, *HUMAN geography, *BIOLOGICAL evolution, *PRINCIPAL components analysis
Abstract

We analyzed 391 samples from 12 Argentinian populations from the Center-West, East and North-West regions with the Illumina Human Exome Beadchip v1.0 (HumanExome-12v1-A). We did Principal Components analysis to infer patterns of populational divergence and migrations. We identified proportions and patterns of European, African and Native American ancestry and found a correlation between distance to Buenos Aires and proportion of Native American ancestry, where the highest proportion corresponds to the Northernmost populations, which is also the furthest from the Argentinian capital. Most of the European sources are from a South European origin, matching historical records, and we see two different Native American components, one that spreads all over Argentina and another specifically Andean. The highest percentages of African ancestry were in the Center West of Argentina, where the old trade routes took the slaves from Buenos Aires to Chile and Peru. Subcontinentaly, sources of this African component are represented by both West Africa and groups influenced by the Bantu expansion, the second slightly higher than the first, unlike North America and the Caribbean, where the main source is West Africa. This is reasonable, considering that a large proportion of the ships arriving at the Southern Hemisphere came from Mozambique, Loango and Angola. [ABSTRACT FROM AUTHOR]

Published
2018
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4. Diferenciación regional de poblaciones nativas de América a partir del análisis de los linajes maternos.

Author

Motti, Josefina M. B., Schwab, Marisol E., Beltramo, Julieta, Jurado-Medina, Laura S., Muzzio, Marina, Ramallo, Virginia, Bailliet, Graciela, and Bravi, Claudio M.

Abstract

Copyright of Intersecciones en Antropología is the property of Universidad Nacional del Centro de la Provincia de Buenos Aires, Facultad de Ciencias Sociales and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2017

5. Native Male Founder Lineages of America

Author

Ramallo, Virginia, Muzzio, Marina, Santos, María Rita, Motti, Josefina María Brenda, Jurado Medina, Laura Smeldy, Bravi, Claudio Marcelo, and Bailliet, Graciela

Subjects
Ciencias Biológicas, Genética y Herencia, SOUTH AMERICA, REGIONAL DIFFERENTIATION, Y- CHROMOSOME LINEAGES, CIENCIAS NATURALES Y EXACTAS
Abstract

Native-American males carry a Y-chromosome lineage characterized by one base-pair polymorphism (M3). All populations from Alaska to the MagellanÕs Strait present this lineage in frequencies higher than 60%. This lineage was considered the ÒfounderÓ, but further information shows that M3 occurred in America, or Siberia shortly before migration to America and so it is actually considered autochthonous. It belongs to the Q haplogroup, shows derivate state for M242, M346, and M3 polymorphisms, and is named subhaplogroup Q1a3a. Another lineage, paragroup Q1a3*, entered America showing derived states for M242 and M346 polymorphisms, and ancestral for M3. It is present in Eurasia and is more frequent in North than in South America. Though found at low frequency, it has not been possible to rule out a genetic bottleneck occurrence during the migration to South America. Fil: Ramallo, Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Muzzio, Marina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Santos, María Rita. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Motti, Josefina María Brenda. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Jurado Medina, Laura Smeldy. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Bravi, Claudio Marcelo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina Fil: Bailliet, Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina

Published
2011

6. Brief Communication: Restricted Geographic Distribution for Y-.Q* Paragroup in South America.

Author

Bailliet, Graciela, Ramallo, Virginia, Muzzio, Marina, Garcia, Angelina, Santos, Maria R., Alfaro, Emma L., Dipierri, José E., Salceda, Susana, Carnese, Francisco R., Bravi, Claudio M., Bianchi, Néstor O., and Demarchi, Darío A.

Subjects
Y chromosome, HUMAN genetic variation, PHYLOGENY, GENETIC polymorphisms, HUMAN geography
Abstract

We analyzed 21 paragroup Q* Y chromosomes from South American aboriginal and urban populations. Our aims were to evaluate the phylogenetic status, geographic distribution, and genetic diversity in these groups of chromosomes and compare the degree of genetic variation in relation to Q1a3a haplotypes. All Q* chromosomes from our series and five samples from North American Q* presented the denvate state for M346, that is present upstream to M3, and determined Q1a3* paragroup. We found a restrictive geographic distribution and low frequency of Q1a3* in South America. We assumed that this low frequency could be reflecting extreme drift effects. However, several estimates of gene diversity do not support the existence of a severe bottleneck. The mean haplotype diversity expected was similar to that for South American Q1a3* and Q1a3a (0.478 and 0.501, respectively). The analysis of previous reports from other research groups and this study shows the highest frequencies of Q* for the West Corner and the Grand Chaco regions of South America. At present, there is no information on whether the phylogenetic status of Q* paragoup described in previous reports is similar to that of Q1a3* paragroup though our results support this possibility. [ABSTRACT FROM AUTHOR]

Published
2009
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