Effets fondateurs et variabilité génétique au Québec

Claudia Moreau; Hélène Vézina; Damian Labuda

doi:doi:10.1051/medsci/200723111008

Accès gratuit

Numéro		Med Sci (Paris) Volume 23, Numéro 11, Novembre 2007


Page(s)		1008 - 1013
Section		M/S revues
DOI		http://dx.doi.org/10.1051/medsci/200723111008
Publié en ligne		15 November 2007

Laberge AM, Michaud J, Richter A, et al. Population history and its impact on medical genetics in Quebec. Clin Genet 2005; 68 : 287–301.
Scriver CR. Human genetics: lessons from Quebec populations. Annu Rev Genomics Hum Genet 2001; 2: 69–101.
Yotova V, Labuda D, Zietkiewicz E, et al. Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. Hum Genet 2005; 117 : 177–87.
Charbonneau H, Desjardins B, Légaré J, Denis H. The population of the St-Lawrence Valley, 1608-1760. In : Haines MR, Steckel RH, eds. A population history of North America. New York : Cambridge University Press, 2000 : 99–142.
Henripin J, Péron Y. La transition démographique de la province de Québec. In : Charbonneau H, ed. La population du Québec: études rétrospectives. Trois-Rivières: Éditions du Boréal Express, 1973 : 23–44.
Pouyez C, Lavoie Y. Les Saguenayens. Introduction à l’histoire des populations du Saguenay. Québec : Presses de l’Université du Québec, 1983.
Institut de la statistique du Québec. Gouvernement du Québec. http://www.stat.gouv.qc.ca/regions/profils/region_02_00.htm, 2006.
Desjardins M, Frenette Y, Bélanger J, Hétu B. Histoire de la Gaspésie. Québec : Les presses de l’Université Laval, 1999 : 796 p.
Statistique Canada. Gouvernement du Canada. http://www12.statcan.ca/francais/census01/home/Index.cfm, 2006.
Mayr E. Animal species and evolution. Cambridge: Harvard University Press, 1963 : 812 p.
Fix AG. Migration and colonization in human microevolution. Cambridge, UK : Cambridge University Press, 1999 : 254 p.
Bouchard G. Information génétique et risque de stigmatisation collective. L’exemple du Saguenay-Lac-St-Jean. Med Sci (Paris) 2004; 20 : 933–4.
Jetté R, Gauvreau D, Guérin M. Aux origines d’une région: le peuplement fondateur de Charlevoix avant 1850. In : Bouchard G, de Braekeleer M, eds. Histoire d’un génome. Population et génétique dans l’est du Québec. Québec : Presses de l’Université du Québec, 1991 : 75–106.
Gagnon A, Heyer E. Fragmentation of the Quebec population genetic pool (Canada): evidence from the genetic contribution of founders per region in the 17^th and 18^th centuries. Am J Phys Anthropol 2001; 114 : 30–41.
Gauvreau D, Guérin M, Hamel M. De Charlevoix au Saguenay : mesure et caractéristiques du mouvement migratoire avant 1911. In : Bouchard G, de Braekeleer M, eds. Histoire d’un génome. Population et génétique dans l’est du Québec. Sillery (Québec) : Presses de l’Université du Québec, 1991 : 145–59.
Lavoie EM, Tremblay M, Houde L, Vezina H. Demogenetic study of three populations within a region with strong founder effects. Community Genet 2005; 8 : 152–60.
Austerlitz F, Heyer E. Social transmission of reproductive behavior increases frequency of inherited disorders in a young-expanding population. Proc Natl Acad Sci USA 1998; 95 : 15140–4.
Labuda M, Labuda D, Korab-Laskowska M, et al. Linkage disequilibrium analysis in young populations: pseudo-vitamin D- deficiency rickets and the founder effect in French Canadians. Am J Hum Genet 1996; 59 : 633–43.
Labuda D, Zietkiewicz E, Labuda M. The genetic clock and the age of the founder effect in growing populations: a lesson from French Canadians and Ashkenazim. Am J Hum Genet 1997; 61 : 768–71.
Brais B, Bouchard JP, Xie YG, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 1998; 18 : 164–7.
Roddier K, Thomas T, Marleau G, et al. Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. Neurology 2005; 64 : 1762–7.
Hechtman P, Kaplan F, Bayleran J, et al. More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians. Am J Hum Genet 1990; 47 : 815–22.
Kere J. Human population genetics: lessons from Finland. Annu Rev Genomics Hum Genet 2001; 2 : 103–28.
Jobling MA, Hurles ME, Tyler-Smith C. Human evolutionary genetics: origins, peoples and disease. Garland Science Publishing, 2003 : 458 p.
Gerbault P. Régionalisation de l’effet fondateur au Québec. Mémoire de maîtrise, Université de Montréal, 2006.
Yotova V, Lefebvre JF, Kohany O, et al. Complex structure of the ancestral human population or earlier Speciation of Modern Humans. Am J Hum Genet 2007 (sous presse).
Zietkiewicz E, Yotova V, Gehl D, et al. Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern humans’ diversity. Am J Hum Genet 2003; 73 : 994–1015.
Chakraborty R. Mitochondrial DNA polymorphism reveals hidden heterogeneity within some Asian populations. Am J Hum Genet 1990; 47 : 87–94.
Excoffier L, Laval G, Schneider S. Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evolutionary Bioinformatics Online 2005; 1 : 47-50. http://cmpg.unibe.ch/software/arlequin3/.
Wright S. The genetical structure of populations. Ann Eugen 1951; 15 : 323–54.
Piercy R, Sullivan KM, Benson N, Gill P. The application of mitochondrial DNA typing to the study of white Caucasian genetic identification. Int J Legal Med 1993; 106 : 85–90.
Richards M, Côrte-Real H, Forster P, et al. Paleolithic and neolithic lineages in the European mitochondrial gene pool. Am J Hum Genet 1996; 59 : 185–203.
Rousselet F, Mangin P. Mitochondrial DNA polymorphisms: a study of 50 French Caucasian individuals and application to forensic casework. Int J Legal Med 1998; 111: 292–8.
Helgason A, Hickey E, Goodacre S, et al. mtDna and the islands of the North Atlantic: estimating the proportions of Norse and Gaelic ancestry. Am J Hum Genet 2001; 68 : 723–37.
Dubut V, Chollet L, Murail P, et al. mtDNA polymorphisms in five French groups: importance of regional sampling. Eur J Hum Genet 2004; 12 : 293–300.
Roewer L, Croucher P J, Willuweit S, et al. Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet 2005; 116 : 279–91.

[1] Laberge AM, Michaud J, Richter A, et al. Population history and its impact on medical genetics in Quebec. Clin Genet 2005; 68 : 287–301.

[2] Scriver CR. Human genetics: lessons from Quebec populations. Annu Rev Genomics Hum Genet 2001; 2: 69–101.

[3] Yotova V, Labuda D, Zietkiewicz E, et al. Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. Hum Genet 2005; 117 : 177–87.

[4] Charbonneau H, Desjardins B, Légaré J, Denis H. The population of the St-Lawrence Valley, 1608-1760. In : Haines MR, Steckel RH, eds. A population history of North America. New York : Cambridge University Press, 2000 : 99–142.

[5] Henripin J, Péron Y. La transition démographique de la province de Québec. In : Charbonneau H, ed. La population du Québec: études rétrospectives. Trois-Rivières: Éditions du Boréal Express, 1973 : 23–44.

[6] Pouyez C, Lavoie Y. Les Saguenayens. Introduction à l’histoire des populations du Saguenay. Québec : Presses de l’Université du Québec, 1983.

[7] Institut de la statistique du Québec. Gouvernement du Québec. http://www.stat.gouv.qc.ca/regions/profils/region_02_00.htm, 2006.

[8] Desjardins M, Frenette Y, Bélanger J, Hétu B. Histoire de la Gaspésie. Québec : Les presses de l’Université Laval, 1999 : 796 p.

[9] Statistique Canada. Gouvernement du Canada. http://www12.statcan.ca/francais/census01/home/Index.cfm, 2006.

[10] Mayr E. Animal species and evolution. Cambridge: Harvard University Press, 1963 : 812 p.

[11] Fix AG. Migration and colonization in human microevolution. Cambridge, UK : Cambridge University Press, 1999 : 254 p.

[12] Bouchard G. Information génétique et risque de stigmatisation collective. L’exemple du Saguenay-Lac-St-Jean. Med Sci (Paris) 2004; 20 : 933–4.

[13] Jetté R, Gauvreau D, Guérin M. Aux origines d’une région: le peuplement fondateur de Charlevoix avant 1850. In : Bouchard G, de Braekeleer M, eds. Histoire d’un génome. Population et génétique dans l’est du Québec. Québec : Presses de l’Université du Québec, 1991 : 75–106.

[14] Gagnon A, Heyer E. Fragmentation of the Quebec population genetic pool (Canada): evidence from the genetic contribution of founders per region in the 17^th and 18^th centuries. Am J Phys Anthropol 2001; 114 : 30–41.

[15] Gauvreau D, Guérin M, Hamel M. De Charlevoix au Saguenay : mesure et caractéristiques du mouvement migratoire avant 1911. In : Bouchard G, de Braekeleer M, eds. Histoire d’un génome. Population et génétique dans l’est du Québec. Sillery (Québec) : Presses de l’Université du Québec, 1991 : 145–59.

[16] Lavoie EM, Tremblay M, Houde L, Vezina H. Demogenetic study of three populations within a region with strong founder effects. Community Genet 2005; 8 : 152–60.

[17] Austerlitz F, Heyer E. Social transmission of reproductive behavior increases frequency of inherited disorders in a young-expanding population. Proc Natl Acad Sci USA 1998; 95 : 15140–4.

[18] Labuda M, Labuda D, Korab-Laskowska M, et al. Linkage disequilibrium analysis in young populations: pseudo-vitamin D- deficiency rickets and the founder effect in French Canadians. Am J Hum Genet 1996; 59 : 633–43.

[19] Labuda D, Zietkiewicz E, Labuda M. The genetic clock and the age of the founder effect in growing populations: a lesson from French Canadians and Ashkenazim. Am J Hum Genet 1997; 61 : 768–71.

[20] Brais B, Bouchard JP, Xie YG, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 1998; 18 : 164–7.

[21] Roddier K, Thomas T, Marleau G, et al. Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. Neurology 2005; 64 : 1762–7.

[22] Hechtman P, Kaplan F, Bayleran J, et al. More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians. Am J Hum Genet 1990; 47 : 815–22.

[23] Kere J. Human population genetics: lessons from Finland. Annu Rev Genomics Hum Genet 2001; 2 : 103–28.

[24] Jobling MA, Hurles ME, Tyler-Smith C. Human evolutionary genetics: origins, peoples and disease. Garland Science Publishing, 2003 : 458 p.

[25] Gerbault P. Régionalisation de l’effet fondateur au Québec. Mémoire de maîtrise, Université de Montréal, 2006.

[26] Yotova V, Lefebvre JF, Kohany O, et al. Complex structure of the ancestral human population or earlier Speciation of Modern Humans. Am J Hum Genet 2007 (sous presse).

[27] Zietkiewicz E, Yotova V, Gehl D, et al. Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern humans’ diversity. Am J Hum Genet 2003; 73 : 994–1015.

[28] Chakraborty R. Mitochondrial DNA polymorphism reveals hidden heterogeneity within some Asian populations. Am J Hum Genet 1990; 47 : 87–94.

[29] Excoffier L, Laval G, Schneider S. Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evolutionary Bioinformatics Online 2005; 1 : 47-50. http://cmpg.unibe.ch/software/arlequin3/.

[30] Wright S. The genetical structure of populations. Ann Eugen 1951; 15 : 323–54.

[31] Piercy R, Sullivan KM, Benson N, Gill P. The application of mitochondrial DNA typing to the study of white Caucasian genetic identification. Int J Legal Med 1993; 106 : 85–90.

[32] Richards M, Côrte-Real H, Forster P, et al. Paleolithic and neolithic lineages in the European mitochondrial gene pool. Am J Hum Genet 1996; 59 : 185–203.

[33] Rousselet F, Mangin P. Mitochondrial DNA polymorphisms: a study of 50 French Caucasian individuals and application to forensic casework. Int J Legal Med 1998; 111: 292–8.

[34] Helgason A, Hickey E, Goodacre S, et al. mtDna and the islands of the North Atlantic: estimating the proportions of Norse and Gaelic ancestry. Am J Hum Genet 2001; 68 : 723–37.

[35] Dubut V, Chollet L, Murail P, et al. mtDNA polymorphisms in five French groups: importance of regional sampling. Eur J Hum Genet 2004; 12 : 293–300.

[36] Roewer L, Croucher P J, Willuweit S, et al. Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet 2005; 116 : 279–91.

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