GENETIC HETEROGENEITY AND PROCESSES OF PEOPLING IN HUMAN POPULATIONS
UNESCO Codes
2402.02, 2402.03, 2409.03Group membership
Jose A. Peña
Miguel A. Alfonso-Sánchez
Luis Gómez-Pérez
Ibone Espinosa
In collaboration with
Ana M. Pérez-Miranda
Susana García-Obregón
Genomic Research Service UPV/EHU
| ::: RESEARCH DESCRIPTION |
The systematic study of different types of molecular polymorphisms in a human population can provide detailed information on the demographic and microevolutionary processes that have affected it over time. Such polymorphisms include a number of DNA markers located in the non-recombining region of the Y-chromosome (NRY) with the potential to provide information on male-specific patterns of migration in the past, namely Y-chromosomal short tandem repeats and single nucleotide polymorphisms (Y-STRs, Y-SNPs), whereas analyses of the mitochondrial DNA (mtDNA) can assist in the clarification female-mediated migration episodes. Still other polymorphisms are useful for describing the joint evolution of the maternal and paternal lineages. At a different level, there are molecular markers that have changed little throughout evolution, such as Alu elements and SNPs, whereas other markers stand out as having high mutation rates, such as STRs. The more conservative of these polymorphisms are considered to be suitable markers for studying population phylogenetics due to their abundance in the genome and their low mutation rates. The less conservative, hypervariable DNA markers reveal data on the most recent micro-evolutionary changes undergone by a given population.
| ::: KEY PUBLICATIONS |
| ::: 2012 |
García-Obregón S, Alfonso-Sánchez MA, Pérez-Miranda AM, Gómez-Pérez L, de Parcorbo MM, Peña JA (2012) Ancestry markers from the human chromosome 6: Alu repeats from the MHC in autochthonous Basques.
Human Immunology http://dx.doi.org/10.1016/j.humimm.2012.04.010
| ::: 2011 |
Gómez-Pérez L, Alfonso-Sánchez MA, Sánchez D, García-Obregón S, Espinosa I, Martínez-Jarreta B, De Pancorbo MM, Peña JA (2011) Alu polymorphisms in the Waorani tribe from the Ecuadorian Amazon reflect the effects of isolation and genetic drift.
Am J Hum Biol. 2011 23(6):790-5.Cardoso S, Alfonso-Sánchez MA, Valverde L, Odriozola A, Pérez-Miranda AM, Peña JA, M. de Pancorbo M (2011) The maternal legacy of Basques in Northern Navarre: New insights into the mitochondrial DNA diversity of the franco-cantabrian area
American Journal of Physical Anthropology DOI 10.1002/ajpa.21532Gómez-Pérez L, Alfonso-Sánchez MA, Dipierri JE, Alfaro E, García-Obregón S, M. de Pancorbo M, Bailliet G, Peña JA (2011) Microevolutionary processes due to landscape features in the province of Jujuy (Argentina)
American Journal of Human Biology 23:177-184
| ::: 2010 |
García-Obregón S, Alfonso-Sánchez MA, Pérez-Miranda AM, Gómez-Pérez L, M. de Pancorbo M, Peña JA (2010) Genetic variability in autochthonous basques from Guipuzcoa: a view from MHC microsatellites
International Journal of Immunogenetics 37: 279-287Gómez-Pérez L, Alfonso-Sánchez MA, Pérez-Miranda AM, García-Obregón S, Builes JJ, Bravo ML, M. de Pancorbo M, Peña JA (2010) Genetic admixture estimates by alu elements in afro-colombian and mestizo populations from Antioquia, Colombia
Annals of Human Biology 37: 488-500Alfonso-Sánchez MA, Pérez-Miranda AM, García-Obregón S, Peña JA (2010) An evolutionary approach to the high frequency of the delta F508 CFTR mutation in european populations
Medical Hypotheses 74: 989-992
| ::: 2009 |
Cardoso S, Merino M, Gómez-Pérez L, Alfonso-Sánchez MA, Dipierri JE, Alfaro E, Valverde L, Odriozola A, B CM, Peña JA, De Pancorbo MM (2009) Mitochondrial DNA control region in native population from the province of Jujuy (Northwestern Argentina)
Forensic Science International: Genetics Supplement Series 2: 340- 341
| ::: 2008 |
Alfonso-Sánchez MA, Cardoso S, Martínez-Bouzas C, Peña JA , Herrera RJ, Castro A, Fernández-Fernández I, De Pancorbo MM (2008) Mitochondrial DNA Haplogroup Diversity in Basques: A reassessment Based on HVI and HVII Polymorphisms.
American Journal of Human Biology 20: 154-164Cardoso S, Alfonso-Sánchez MA, González-Andrade F, Valverde L, Odriozola A, Pérez-Miranda AM, Peña JA, Martínez-Jarreta B, De Pancorbo MM (2008) Mitochondrial DNA in Huaroni (Ecuadorian amerindians): A new variant in haplogroup A2.
Forensic Science International: Genetics Supplement Series
| ::: 2007 |
García-Obregón S, Alfonso-Sánchez MA , Pérez-Miranda AM, Pancorbo MM, Peña JA (2007) Polymorphic Alu insertions and the genetic structure of Iberian Basques.
Journal of Human Genetics 52: 317-327Gómez-Pérez, L., Alfonso-Sánchez, M.A., Pérez-Miranda, A.M., de Pancorbo, M.M., Peña, J.A., 2007, Utilidad de las inserciones Alu en los estudios de mestizaje
Antropo, 14, 29-36. www.didac.ehu.es/antropo
| ::: 2006 |
Peña JA, García-Obregón S, Pérez-Miranda AM, Pancorbo MM, Alfonso-Sánchez MA (2006) Gene flow in the Iberian Peninsula determined from Y-chromosome STR loci
American Journal of Human Biology 18, 532-539Alfonso-Sánchez MA, Martínez-Bouzas C, Castro A, Peña JA, Fernández-Fernández I, Herrera RJ, de Pancorbo MM (2006) Sequence polymorphisms of the mtDNA control region in a human isolate: The Georgians from Swanetia.
Journal of Human Genetics 51, 429-439García-Obregón S, Alfonso-Sánchez MA, Pérez-Miranda AM, Vidales C, Arroyo D, Peña JA (2006) Genetic position of Valencia (Spain) in the Mediterranean basin according to ALU insertions
American Journal of Human Biology 18, 187-195Fernández-Mestre M, Alfonso-Sánchez MA, Gendzekhadze K, Layrisse Z, Peña JA (2006) Genetic polymorphisms at four STR loci from the HLA region in a Venezuelan population
Journal of Forensic Sciences 51, 703-704Pérez-Miranda AM, Alfonso-Sánchez MA, Peña JA, Herrera RJ (2006) Qatari DNA variation at a crossroad of human migrations
Human Heredity 61, 67-79
|
::: 2005 |
Pérez-Miranda AM, Alfonso-Sánchez MA, Kalantar A, Peña JA, de Pancorbo MM, Herrera RJ (2005) Allele frequencies of 13 STR loci in autochthonous basques from the province of Vizcaya (Spain).
Forensic Science International 152, 259-262Pérez-Miranda AM, Alfonso-Sánchez MA, Kalantar A, García-Obregón S, de Pancorbo MM, Peña JA, Herrera RJ (2005) Microsatellite data support subpopulation structuring among basques.
Journal of Human Genetics 50, 403-414Pérez-Miranda AM, Alfonso-Sánchez MA, Peña A, de Pancorbo MM, Herrera MJ (2005) Genetic polymorphism at 13 STR loci in autochthonous basques from Alava province (Spain).
Legal Medicine 7, 58-61
| ::: 2004 |
Peña, J.A., Alfonso-Sánchez, M.A., Pérez-Miranda, A., García-Obregón, S. (2004) Flujo génico y presiones selectivas en Europa. Una aproximación a partir de clinas de ADN codificante y no codificante.
Antropo 8, 117-122. http://www.didac.ehu.es/antropo/Pérez-Miranda AM, Alfonso-Sánchez MA, Vidales MC, Calderón R, Peña JA (2004) Genetic polymorphism and linkage disequilibrium of the HLA-DP region in Basques from Navarre (Spain).
Tissue Antigens, 64: 264-275Pontes ML, Peña JA, Alfonso-Sánchez MA, Abrantes D, Lima G, Pereira MJ, Fernández-Fernández I, Castro A, Pinheiro MF, de Pancorbo MM (2004) Y chromosome STRs in the North of Portugal.
International Congress Series 1261: 350-352Lima G, Peña JA, Alfonso-Sánchez MA, Pontes ML, Abrantes D, Pereira MJ, Fernández-Fernández I, Castro A, Pinheiro MF, de Pancorbo MM (2004) Analysis of the HVI and HVII regions of mitochondrial DNA in 100 individuals from North of Portugal.
International Congress Series 1261: 366-368
| ::: 2003 |
Pérez-Miranda A, Alfonso-Sánchez M, Peña JA, Calderón R (2003) HLA-DQA1 polymorphism in autochthonous Basques from Navarre (Spain): Genetic position within European and Mediterranean scopes.
Tissue Antigens, 61:465-474Calderón R, Carrión M, Pérez-Miranda A, Peña JA, Dugoujon JM, Crouau-Roy B (2003) Allele variation of DYS19 and Y-alu insertion (yap) polymorphisms in Basques. An insight into the peopling of Europe and Mediterranean space.
Human Biology, 75: 117-127
| ::: 2002 |
Peña JA, Alfonso-Sánchez MA, García-Obregón S, Pérez-Miranda A (2002) Persistencia de actividad lactasa en población residente en el País Vasco.
Antropo, 3:51-60 http://www.didac.ehu.es/antropo/Peña JA, Alfonso-Sánchez MA, García-Obregón S, Pérez-Miranda A (2002) Aislamiento por distancia en poblaciones europeas sobre la base de polimorfismos genéticos séricos.
Antropo, 2:31-39 http://www.didac.ehu.es/antropo/Peña JA, Calderón R, Pérez-Miranda A, Vidales C, Dugoujon JM, Carrión M and Crouau-Roy B (2002) Microsatellite DNA markers from HLA region (D6S105, D6S265 and TNFA) in autochthonous basques from Northern Navarre (Spain).
Annals of Human Biology, 29:176-191
| ::: 1998-2001 |
Calderón R, Perez-Miranda A, Peña JA, Vidales C, Aresti U, Dugoujon JM (2000) The genetic position of the autochthonous subpopulation of Northern Navarre (Spain) in relation to the other Basque subpopulations. A study based on GM and KM immunoglobulin allotypes.
Human Biology, 72: 619-640Dipierri JE, Alfaro E, Peña JA, Constans J, Dugoujon JM (2000) GM, KM immunoglobulin allotypes and other serum genetic markers (HP, GC, PI and TF) among South American populations living at different altitudes (Jujuy Province, Argentina): Admixture estimates.
Human Biology, 72:305-319Martinez-Labarga C, Rickards O, Scacchi R, Corbo RM, Biondi G, Peña JA, Varas de Vieira C, Guevara A, Mesa MS and de Stefano GF (1999) Genetic population structure of two African-american communities of Esmeraldas (Ecuador).
American Journal of Physical Anthropology, 109:159-174Calderón R, Vidales C, Peña JA, Perez-Miranda A and Dugoujon JM (1998) Immunoglobulin allotypes (GM and KM) in Basques from Spain: Approach to the origin of the Basque population.
Human Biology, 70:667-698Papiha SS, Calderón R, Sertedaki A, Peña JA, Zhong Y and Chakraborty R (1998) Study of three hypervariable DNA loci (D1S7; D7S22 and D12S11) in three European populations.
Annals of Human Biology, 25(1):29-41Mastana SS, Calderon R, Peña JA, Reddy PH, Papiha SS (1998) Anthropology of the Apolipoprotein E (Apo E) gene: Low frequency of Apo E4 allele in basques and in tribal (Baiga) populations of India.
Annals of Human Biology, 25:137-143García Fernández E, Arrieta A, Riñón M, Maruri N, Arranz MC, Peña JA, García Masdevall MD (1997) Genetic polymorphisms of HLA class I and class II system in the Basque population.
Transplantation Proceedings, 29(8):3707-3709
@ 1997-2011, Jose A. Peña