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12. A genetic historical sketch of European gypsies: the perspective from autosomal markers

Author

Gusmao, Alfredo, Valente, Cristina, Gomes, Veronica, Alves, Cintia, Amorim, Antonio, Prata, Maria Joao, and Gusmao, Leonor

Subjects
Genetic research -- Analysis, Romanies -- Analysis, Anthropology/archeology/folklore
Abstract

In this study, 123 unrelated Portuguese Gypsies were analyzed for 15 highly polymorphic autosomal short tandem repeats (STRs). Average gene diversity across the 15 markers was 76.7%, which is lower than that observed in the non-Gypsy Portuguese population. Subsets of STRs were used to perform comparisons with other Gypsy and corresponding host populations. Interestingly, diversity reduction in Gypsy groups compared to their non-Gypsy surrounding populations apparently varied according to an East-West gradient, which parallels their dispersion in Europe as well as a decrease in complexity of their internal structure. Analysis of genetic distances revealed that the average level of genetic differentiation between Gypsy groups was much larger than that observed between the corresponding non-Gypsy populations. The high rate of heterogeneity among Gypsies can be explained by strong genetic drift and limited intergroup gene flow. However, when genetic relationships were addressed through principal component analysis, all Gypsy populations clustered together and was clearly distinguished from other populations, a pattern that suggests their common origin. Concerning the putative ancestral genetic component, admixture analysis did not reveal strong Indian ancestry in the current Gypsy gene pools, in contrast to the high admixture estimates for either Europeans or Western Asians. Am J Phys Anthropol 141:507-514, 2010. [c] 2009 Wiley-Liss, Inc. KEY WORDS microsatellites; STRs; Roma; Portugal; genetic diversity DOI 10.1002/ajpa.21166

Published
2010

14. European Roma groups show complex West Eurasian admixture footprints and a common South Asian genetic origin

Author

Genética, antropología física y fisiología animal, Genetika,antropologia fisikoa eta animalien fisiologia, Font Porterias, Neus, Arauna, Lara R., Poveda Zabala, Alaitz, Bianco, Erica, Rebato Ochoa, Esther Matilde, Prata, Maria Joao, Calafell, Francesc, Comas, David, Genética, antropología física y fisiología animal, Genetika,antropologia fisikoa eta animalien fisiologia, Font Porterias, Neus, Arauna, Lara R., Poveda Zabala, Alaitz, Bianco, Erica, Rebato Ochoa, Esther Matilde, Prata, Maria Joao, Calafell, Francesc, and Comas, David

Abstract

Author summary Human demographic processes and admixture events leave traceable footprints in the genomes of the populations and they can modulate the genetic architecture of complex diseases. Here, we aim to study the Roma people, an admixed population with a particular demographic history recognized as the largest ethnic minority in Europe. Previous studies suggest that they originated in South Asia 1,500 years ago and followed a diaspora towards Europe with extensive admixture with non-Roma West Eurasian groups. However, the genetic components of the Roma have not been deeply characterized. Our study reveals a common South Asian origin of all European Roma, closely related to a Punjabi group from Northwestern India. Through fine-scale haplotype-based methods, we describe a complex West Eurasian genetic component in the Roma groups, identifying a common Balkan ancestry and country-specific admixture footprints consistent with the dispersion through Europe. Our findings provide new insights into the demographic history and recent admixture events that have shaped the genetic composition of European Roma groups and could enable a better genetic characterization of complex disease in this population. The Roma population is the largest transnational ethnic minority in Europe, characterized by a linguistic, cultural and historical heterogeneity. Comparative linguistics and genetic studies have placed the origin of European Roma in the Northwest of India. After their migration across Persia, they entered into the Balkan Peninsula, from where they spread into Europe, arriving in the Iberian Peninsula in the 15th century. Their particular demographic history has genetic implications linked to rare and common diseases. However, the South Asian source of the proto-Roma remains still untargeted and the West Eurasian Roma component has not been yet deeply characterized. Here, in order to describe both the South Asian and West Eurasian ancestries, we analyze previously publish

Published
2019

24. Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

Author

Matos, Liliana, Canals Montferrer, Isaac, Dridi, Larbi, Choi, Yoo, Prata, Maria Joao, Jordan, Peter, Desviat, Lourdes R., Pérez, Belén, Pshezhetsky, Alexey V., Grinberg Vaisman, Daniel Raúl, Alves, Sandra, Vilageliu i Arqués, Lluïsa, and Universitat de Barcelona

Subjects
Medicine(all), Lisosomes, Lysosomal Storage Disease, Mutació (Biologia), Mutation, Genetics(clinical), Pharmacology (medical), Mutation (Biology), Lysosomes, Splicing, Doenças Genéticas
Abstract

Mutations affecting RNA splicing represent more than 20% of the mutant alleles in Sanfilippo syndrome type C, a rare lysosomal storage disorder that causes severe neurodegeneration. Many of these mutations are localized in the conserved donor or acceptor splice sites, while few are found in the nearby nucleotides. METHODS: In this study we tested several therapeutic approaches specifically designed for different splicing mutations depending on how the mutations affect mRNA processing. For three mutations that affect the donor site (c.234 + 1G > A, c.633 + 1G > A and c.1542 + 4dupA), different modified U1 snRNAs recognizing the mutated donor sites, have been developed in an attempt to rescue the normal splicing process. For another mutation that affects an acceptor splice site (c.372-2A > G) and gives rise to a protein lacking four amino acids, a competitive inhibitor of the HGSNAT protein, glucosamine, was tested as a pharmacological chaperone to correct the aberrant folding and to restore the normal trafficking of the protein to the lysosome. RESULTS: Partial correction of c.234 + 1G > A mutation was achieved with a modified U1 snRNA that completely matches the splice donor site suggesting that these molecules may have a therapeutic potential for some splicing mutations. Furthermore, the importance of the splice site sequence context is highlighted as a key factor in the success of this type of therapy. Additionally, glucosamine treatment resulted in an increase in the enzymatic activity, indicating a partial recovery of the correct folding. CONCLUSIONS: We have assayed two therapeutic strategies for different splicing mutations with promising results for the future applications FCT fellowship SFRH/BD/64592/2009 to LM

Published
2014

25. Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language

Author

Rosser, Zoe H., Zerjal, Tatiana, Hurles, Matthew E., Adojaan, Maarja, Alavantic, Dragan, Amorim, Antonio, Amos, William, Armenteros, Manuel, Arroyo, Eduardo, Barbujani, Guido, Beckman, Gunhild, Beckman, Lars, Bertranpetit, Jaume, Bosch, Elena, Bradley, Daniel G., Brede, Gaute, Cooper, Gillian, Corte-Real, Helena B. S. M., de Knijff, Peter, Decorte, Ronny, Dubrova, Yuri E., Evgrafov, Oleg, Gilissen, Anja, Glisic, Sanja, Golge, Mukaddes, Hill, Emmeline W., Jeziorowska, Anna, Kalaydjieva, Luba, Kayser, Manfred, Kivisild, Toomas, Kravchenko, Sergey A., Krumina, Astrida, Kucinskas, Vaidutis, Lavinha, Joao, Livshits, Ludmila A., Malaspina, Patrizia, Maria, Syrrou, McElreavey, Ken, Meitinger, Thomas A., Mikelsaar, Aavo-Valdur, Mitchell, R. John, Nafa, Khedoudja, Nicholson, Jayne, Norby, Soren, Pandya, Arpita, Parik, Juri, Patsalis, Philippos C., Pereira, Luisa, Peterlin, Borut, Pielberg, Gerli, Prata, Maria Joao, Previdere, Carlo, Roewer, Lutz, Rootsi, Siiri, Rubinsztein, D. C., Saillard, Juliette, Santos, Fabricio R., Stefanescu, Gheorghe, Sykes, Bryan C., Tolun, Aslihan, Villems, Richard, Tyler-Smith, Chris, and Jobling, Mark A.

Subjects
Human genetics -- Research, Europeans -- Genetic aspects, Biological sciences
Published
2000

28. STR data for the AmpFlSTR profiler plus loci from Macau (China).

Author

Gusmao, Leonor, Prata, Maria Joao, Sanchez-Diz, Paula, Lareu, Maria Victoria, Carracedo, A., Alves, Cintia, Martins, Natalia, and Amorim, Antonio

Subjects
Population genetics -- Research, Forensic genetics -- Research, Chinese -- Physiological aspects
Published
2001

29. STR data from S. Tome e Principe (Gulf of Guinea, West Africa).

Author

Gusmao, Leonor, Prata, Maria Joao, Miranda, Carlos, Trovoada, Maria de Jesus, and Amorim, Antonio

Subjects
Forensic genetics -- Research, Population genetics -- Research, Africans -- Physiological aspects, French-speaking West Africa -- Demographic aspects
Published
2001

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