. Aplicación de nuevas tecnologías al estudio de la diversidad genética de las poblaciones humanas (BOS2001-0794)

Dirección General de Investigación Científica y Técnica. Duración: 2001-2003. Investigador principal: Francesc Calafell.

. Detección de la selección mediada por patógenos en las glicoproteínas de la superfície celular humana. Dirección General de Investigación Científica y Técnica

Duración: 2005-2008. IP: Francesc Calafell

2004

100. A. González-Neira, F. Calafell, A. Navarro, O. Lao, H. Cann, D. Comas, J.Bertranpetit. (2004) Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22. Human Genomics, 1:399-409.

99. A. Lopes, F. Calafell, A. Amorim. (2004) Microsatellite variation and evolutionary history of PCDHX/Y gene pair within the Xq21.3/Yp11.2 hominid specific homology block. Molecular Biology and Evolution, 21:2092-10

98. V. Coia, G. Destro-Bisol, F. Verginelli, I. Boschi, F. Cruciani, G. Spedini, V. Pascali,D. Comas, F. Calafell. mtDNA variation in North Cameroon and the back migration from Asia to sub-Saharan Africa. American Journal of Physical Anthropology, in press

97. A.M. Cobo, A. Sáenz, J.J. Poza, M. Urtasun, B. Indakoetxea, J.A. Urtizberea, A. López de Munain, F. Calafell. A common haplotype associated with the Basque 2362AG®TCATCT mutation in muscular calpain3 gene. Human Biology, in press

96. L. Azevedo, C. Climent, L.Vilarinho, F. Calafell, A. Amorim. (2004)Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene. Human Mutation, 24:273

95. S. Plaza, A. Salas, F. Calafell, F. Corte-Real, J.Bertranpetit, A. Carracedo, D. Comas (2004) Insights into the western Bantu dispersal: mtDNA lineages analysis in Angola. Human Genetics, 115:439-447

94. A.M. Andrés, M. Soldevila, O. Lao, V. Volpini, H.T. Jacobs, N. Saitou, I. Hayasaka, F. Calafell, J. Bertranpetit. (2004) Comparative genetics of functional trinucleotide tandem repeats in humans and apes. Journal of Molecular Evolution, 59:329-339

93. K. Fadhlaoui, S. Plaza, F. Calafell, J. Bertranpetit, M. Ben Amor, D. Comas, A. Benammar ElGaaied. (2004) Mitochondrial DNA heterogeneity in Tunisian Berbers. Annals of Human Genetics, 68:222-233.

92. D. Comas, S. Plaza, R. S. Wells, N. Yuldasheva, O. Lao, F. Calafell, J. Bertranpetit. (2004) Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages. European Journal ofHuman Genetics, 12:495-504

91. F. Roubinet, S. Despiau, F. Calafell, F. Jin, J. Bertanpetit, N. Saitou, and A. Blancher. (2004) Evolution of O alleles of the human ABO blood group gene. Transfusion, 44:707-715.

90. G. Destro-Bisol, V. Coia, I. Boschi, F. Verginelli, A. Caglià, V. Pascali, G. Spedini, F. Calafell. (2004) An analysis of variation of mtDNA hypervariable region-1 in Central Africa: implications for the origins of African Pygmies. American Naturalist, 163:212-226.

89. A. Aldea, F. Calafell, J.I. Aróstegui, O. Lao, F. Rius, S. Plaza, M. Masó, J.Vives, J. Yagüe.(2004)The west side story: MEFV haplotype in Spanish FMF patients and in controls. Evidences of high LD and a recombination “hot-spot” at the MEFV locus. Human Mutation, 23:399.

88. D. Comas, H. Schmid, S. Braeuer, C. Flaiz, A. Busquets, F.Calafell, J. Bertranpetit, H.-G. Scheil, W. Huckenbeck, L. Efremovska, H. Schmidt(2004)Alu insertion polymorphisms in the Balkans and the origins of the Aromuns. Annals of Human Genetics, 68:120-127.

87. M. Soldevila, A.M. Andrés, A. Blancher, F. Calafell, M. Ordóñez, M. Pumarola, B. Oliva, J. Aramburu, J. Bertranpetit (2004) Variation of the prion gene in chimpanzees and its implication for prion diseases. Neuroscience Letters, 355: 157-160

86. J. Bertranpetit, F. Calafell, D. Comas, A. González-Neira, A. Navarro. (2004) Structure of linkage disequilibrium in humans: genome factors and population stratification. Cold Spring Harbor Symposia on Quantitative Biology, 68:79-88.

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2003

85. R. Martínez-Arias, F. Calafell, J. Bertranpetit (2003) Pseudogenes: patterns of mutation. In: Nature Encyclopedia of the Human Genome, vol 4., pp. 909-912, Macmillan Publishers Ltd.

84. I. Dupanloup, L. Pereira, G. Bertorelle, F.Calafell, M.J. Prata, A. Amorim, G. Barbujani (2003) A recent shift from polygyny to monogamy in humans is suggested by the analysis of worldwide Y-chromosome diversity. Journal of Molecular Evolution, 57:85-97.

83. J. Clarimón, J. Bertranpetit, F. Calafell, M. Boada, L. Tàrraga, D. Comas. (2003) Association study between Alzheimer’s disease and different genes involved in Ab biosynthesis, aggregation and degradation: suggestive results with BACE1. Journal of Neurology, 250 :956-961.

82. N. Malats, F. Calafell. (2003) Advanced glossary on genetic epidemiology. Journal of Epidemiology and Community Health, 57:562-564.

81. S. Plaza, F. Calafell, A. Helal, N. Bouzerna, G. Lefranc, J. Bertranpetit, D. Comas. (2003) Joining the pillars of Hercules: mtDNA sequences show multidirectional gene flow in the Western Mediterranean. Annals of Human Genetics, 67:312-328.

80. N. Malats, F. Calafell. (2003) Basic glossary on genetic epidemiology. Journal of Epidemiology and Community Health, 57:480-482.

79. M. Soldevila, F. Calafell, A. Andrés, J. Yagüe, A. Helgason, K. Stefánsson, J. Bertranpetit. (2003) Prion susceptibility and protective alleles exhibit marked geographic differences. Human Mutation, 22:104-105

78. J. Clarimon, J. Bertranpetit, F. Calafell, M. Boada, L. Tàrraga, D. Comas (2003) Joint analysis of candidate genes related to Alzheimer's Disease in a Spanish population. Psychiatric Genetics, 13:85-90.

77. F. Calafell, N. Malats. (2003) Basic molecular genetics for epidemiologists. Journal of Epidemiology and Community Health, 57:398-400.

76. O. Lao, A.M. Andrés, E. Mateu, J. Bertranpetit, F. Calafell. (2003) Spatial patterns of cystic fibrosis mutation spectra reflect population history in European populations. European Journal of Human Genetics, 11:385-394.

75. C. Lalueza-Fox, M.T.P. Gilbert, A.J. Martínez-Fuentes, F. Calafell, J. Bertranpetit. (2003) Mitochondrial DNA from pre-Columbian Ciboneys supports early colonization of the Caribbean from South America. American Journal of Phyisical Anthropology, 121:97-108.

74. F. Calafell. (2003) Classifying humans. Nature Genetics, 33:435-436.

73. E. Bosch, F. Calafell, Z. H. Rosser, S. Nørby, N. Lynnerup, M.E. Hurles, M.A. Jobling. (2003) High level of male-biased Scandinavia admixture in the Greenlandic Inuit shown by Y-chromosomal analysis. Human Genetics, 112:353-363.

72. L. Bouqbis, H. Izaabel, O. Akhayat, A. Pérez-Lezaun, F. Calafell, J.Bertranpetit, D. Comas (2003) Association of the CTLA4 promoter region (-1661G allele) with type-1 diabetes in the South Moroccan population. Genes and Immunity, 4:132-137.

71. L. Bouqbis, O. Akhayyat, H.-J. Garchon, F. Calafell, H. Izaabel. (2003) TNFA-TNFB haplotypes modify susceptibility to type I diabetes mellitus independently of HLA class II in a Moroccan population. Tissue Antigens, 81:72-79.

70. A. Andrés, M. Soldevila, N. Saitou, V. Volpini, F. Calafell, J. Bertranpetit. (2003) Understanding the dynamics of the SCA8 locus through a comparative approach. Neuroscience Letters, 336:143-146

69. A.M. Andrés, O. Lao, M. Soldevila, F. Calafell, J. Bertranpetit (2003). Dynamics of CAG repeat loci revealed by the analysis of their variability. Human Mutation, 221:61-70.

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2002

68. L. Azevedo, F. Calafell, L. Vilarinho, A. Amorim. (2002) Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms. Annals of Human Genetics, 66:379-385.

67. E. Mateu, A. Pérez-Lezaun, R. Martínez-Arias, A. Andrés, M. Vallés, J.Bertranpetit, F. Calafell. (2002) The PKLR-GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations. Human Genetics, 110:532-544.

66. F. Calafell, D. Comas, J. Bertranpetit (2002) Why names. Genome Research, 12:219-221.

65. E. Bosch, A.C. Lee, F. Calafell, E. Arroyo, P. Henneman, P. de Knijff, M.A. Jobling (2002) High resolution Y chromosome typing: 19 STRs amplified in three multiplex reactions. Forensic Science International, 125:42-51.

64. E. Mateu, F. Calafell, M.D. Ramos, T. Casals, J. Bertranpetit. (2002) Can a place of origin of the main cystic fibrosis mutations be recognized? American Journal of Human Genetics, 70:257-264

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2001

63. B. Morera, G. Sánchez-Rivera, G. Jiménez-Arce, F. Calafell, A.I. Morales-Cordero (2001) Nicaraguan population data on LDLR, GYPA, D7S8, HBGG, GC and HLA-DQA1 loci. Revista de Biología Tropical 49:1253-1260.

62. A.I. Morales, B. Morera, G. Jiménez-Arce, G. Sánchez-Rivera, F. Calafell, R. Barrantes (2001) Allele frequency of markers LDLR, GYPA, D7S8, HBGG, GC, HLA-DQA1 and D1S80 in the general and minority populations of Costa Rica. Forensic Science International 124:1-4.

61. D. Gresham, B. Morar, P.A. Underhill, G. Passarino, A.A. Lin, C. Wise, D. Angelicheva, F. Calafell, P.J. Oefner, P. Shen, I. Tournev, R. de Pablo, V. Kuĉinskas, A. Pérez-Lezaun, E. Marushiakova, V. Popov, L. Kalaydjieva (2001) Origins and divergence of the Roma (Gypsies). American Journal of Human Genetics, 69:1314-1331.

60. S. Bofill-Mas, M. Formiga-Cruz, P.Clemente-Casares, F. Calafell,R. Gironés. (2001) Potential transmission of human polyomaviruses through the gastrointestinal tract exposed to virions or viral DNA. Journal of Virology, 75:10290-10299.

59. R. Martínez-Arias, E. Mateu, J. Bertranpetit, F. Calafell. (2001) Profiles of accepted mutation: from neutrality in a pseudogene to disease-causing mutation on its homologous gene. Human Genetics, 109:7-10.

58. R. Martínez-Arias, F. Calafell, E. Mateu, D. Comas, A. Andrés, J. Bertranpetit. (2001) Sequence variability of a human pseudogene. Genome Research, 11:1071-1085.

57. C. Lalueza-Fox, F. Luna Calderón, F. Calafell, B. Morera, J. Bertranpetit. (2001) MtDNA from extinct Tainos and the peopling of the Caribbean. Annals of Human Genetics, 65:137-151.

56. X. Domingo-Roura, C. Newman, F. Calafell, D.W. McDonald. (2001) Blood biochemistry reflects seasonal nutritional and reproductive constraints in the Eurasian badger (Meles meles). Physiological and Biochemical Zoology, 74:450-460.

55. Z. Brakez, E. Bosch, H. Izaabel, O. Akhayat, D. Comas, J. Bertranpetit, F. Calafell. (2001) Human mitochondrial DNA sequence variation in the Moroccan population of the Souss area. Annals of Human Biology, 28:295-307.

54. L. Kalaydjieva, D. Gresham, F. Calafell (2001) Genetic studies of the Roma (Gypsies): a review. BMC Medical Genetics 2:5.

53. L. Kalaydjieva, F. Calafell, M.A. Jobling, D. Angelicheva, P. de Knijff, Z.H. Rosser, M.E. Hurles, P. Underhill, I. Tournev, E. Marushiakova, V. Popov (2001) Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages. European Journal of Human Genetics 9:97-104.

52. E. Bosch, F. Calafell, D. Comas, P.J. Oefner, P.A. Underhill, J. Bertranpetit. (2001) High-resolution analysis of human Y-chromosome variation shows a sharp discontinuity and limited gene flow between Northwestern Africa and the Iberian Peninsula. American Journal of Human Genetics, 68:1019-1029.

51. E. Bosch, J. Clarimón, A. Pérez-Lezaun, F. Calafell. (2001) STR data for 21 loci in Northwestern Africa. Forensic Science International, 116:41-51.

50. E. Mateu, F. Calafell, O. Lao, B. Bonné-Tamir, J.R. Kidd, A. Pakstis, K.K. Kidd, J. Bertranpetit. (2001) Worldwide genetic analysis of the CFTR region. American Journal of Human Genetics, 68:103-117.

49. D. Comas, S. Plaza, F. Calafell, A. Sajantila, J. Bertranpetit (2001). Recent insertion of an Alu element within a polymorphic human-specific Alu insertion. Molecular Biology and Evolution, 18:85-88.

48. Calafell F., Grigoreko E.L., Chikanian A.A., Kidd K.K. (2001) Haplotype evolution and linkage disequilibrium: a simulation study. Human Heredity, 51(3):121-132.

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2000

47. D. Comas, F. Calafell, N. Benchemsi, A. Helal, G. Lefranc, M. Stoneking, M.A. Batzer, J. Bertranpetit, A. Sajantila (2000) Alu insertion polymorphisms in Northwest Africa and the Iberian Peninsula: evidence for a strong genetic boundary through the Gibraltar Straits. Human Genetics, 107:312-319.

46. A. Salas, V. Lareu, F. Calafell, J. Bertranpetit, A. Carracedo (2000). mtDNA hypervariable region II (HVII) sequences in human evolution studies. European Journal of Human Genetics, 8:964-974

45. F. Calafell. (2000) The probability distribution of the number of loci indicating exclusion in a core set of STR markers. International Journal of Legal Medicine, 114:61-65.

44. E. Bosch, F. Calafell, A. Pérez-Lezaun, D. Comas, H. Izaabel, O. Akhayat, A. Sefiani, G. Hariti, J.M. Dugoujon, J. Bertranpetit. (2000) Y chromosome STR haplotypes in four populations from Northwestern Africa. International Journal of Legal Medicine, 114:36-40.

43. B. Martínez-Jarreta, A. Prades, F. Calafell, B. Budowle (2000) Mitochondrial DNA HVI and HVII variation in a North-East Spanish population. Journal of Forensic Sciences 45: 1162-1163.

42. S. Önengut, G.N. Kavaslar, E. Battaloglu, P. Serdaroglu, F. Deymeer, C. Özdemir, F. Calafell, A. Tolun. (2000) Deletion pattern in the dystrophin gene in the Anatolian population, and a comparison to Europeans and Indians. Annals of Human Genetics 64:25-31.

41. D. Comas, F. Calafell, N. Bendukidze, L. Fañanás, J. Bertranpetit. (2000) Georgian and Kurd mtDNA sequence analysis shows a lack of correlation between languages and female genetic lineages. American Journal of Physical Anthropology, 112:5-16

40. E. Bosch, F. Calafell, A. Pérez-Lezaun, J. Clarimón, D. Comas, E. Mateu, R. Martínez-Arias, B. Morera, Z. Brakez, O. Akhayat, A. Sefiani, G. Hariti, A. Cambon-Thomsen, J. Bertranpetit. (2000) Genetic structure of Northwestern Africa revealed by STR analysis. European Journal of Human Genetics, 8:360-366.

39. A. Pérez-Lezaun, F.Calafell, J. Clarimón, E. Bosch, E. Mateu, L. Gusmão, A. Amorim, Benchemsi N, Bertranpetit J. (2000) Report on allele frequency data on 13 short tandem repeats in a stratified population sample of the Iberian Peninsula and Northern Africa using the AmpFLSTR Profiler Plus, AmpFLSTR Cofiler and AmpFLSTR Green I PCR amplification kits. International Journal of Legal Medicine 113:208-214.

38. L. Simoni, F. Calafell, D. Pettener, J. Bertranpetit, G. Barbujani. (2000) Reconstructing prehistory from genetic data. American Journal of Human Genetics, 66:1177-1179

37. F. Calafell, A. Pérez-Lezaun, J. Bertranpetit. (2000) Genetic distances and microsatellite diversification in humans. Human Genetics, 106:133-134

36. L. Simoni, F. Calafell, D. Pettener, J. Bertranpetit, G. Barbujani. (2000) Geographic patterns of mtDNA diversity in Europe. American Journal of Human Genetics, 66:262-278.

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Undergraduate course in Human Ecology (co-ordination and 120 hours of lectures, practicals, and tutorials)

• Vocal de Lexicografia de la Societat Catalana de Biologia entre abril de 1988 i abril de 1992. Com a tal, responsable de l'edició dels fascicles de divulgació del lèxic biològic català "Què cal saber?".
• Reviewer per a les revistes “Nature Genetics”, “American Journal of Human Genetics” , “European Journal of Human Genetics”, “Human Genetics”, “Molecular Ecology”, “Annals of Human Genetics”, “Journal of Molecular Evolution”, “American Journal of Physical Anthropology”, “Human Heredity”, “Human Biology”, “Annals of Human Biology”, “Forensic Science International”.
• Revisor de projectes per a la National Science Foundation, USA.
• Membre del consell assessor extern del projecte “ALFRED”, finançat per la National Science Foundation, USA.

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