The Genom of Homo sapiens.pdf

88 BERTRANPETIT ET AL.1999. Population studies of polymorphisms of the serotonintransporter protein gene. Am. J. Med. Genet. 88: 61.Hastbacka J., de la Chapelle A., Kaitila I., Sistonen P., WeaverA., and Lander E. 1992. Linkage disequilibrium mapping inisolated founder populations: Diastrophic dysplasia in Finland.Nat. Genet. 23: 204.Hudson R. 1990. Gene genealogies and the coalescent process.Oxf. Surv. Evol. Biol. 7: 1._______ . 2001. Linkage disequilibrium and recombination. InHandbook of statistical genetics (ed. D. Balding et al.), p. 309.Wiley & Sons, New York.Jeffreys A.J. and Neumann R. 2002. Reciprocal crossover asymmetryand meiotic drive in a human recombination hot spot.Nat. Genet. 31: 267.Kaessmann H., Zollner S., Gustafsson A.C., Wiebe V., Laan M.,Lundeberg J., Uhlen M., and Paabo S. 2002. Extensive linkagedisequilibrium in small human populations in Eurasia.Am. J. Hum. Genet. 70: 673.Kauppi L., Sajantila A., and Jefrreys A. 2003. Recombinationhotspots rather than population history dominate linkage disequilibriumin the MHC class II region. Hum. Mol. Genet. 121: 33.Kidd J.R., Pakstis A.J., Zhao H., Lu R.B., Okonofua F.E.,Odunsi A., Grigorenko E., Tamir B.B., Friedlaender J.,Schulz L.O., Parnas J., and Kidd K.K. 2000. Haplotypes andlinkage disequilibrium at the phenylalanine hydroxylase locus,PAH, in a global representation of populations. Am. J.Hum. Genet. 66: 1882.Kidd K.K., Morar B., Castiglione C.M., Zhao H., Pakstis A.J.,Speed W.C., Bonne-Tamir B., Lu R.B., Goldman D., Lee C.,Nam Y.S., Grandy D.K., Jenkins T., and Kidd J.R. 1998. Aglobal survey of haplotype frequencies and linkage disequilibriumat the DRD2 locus. Hum. Genet. 103: 211.Kong A., Gudbjartsson D.F., Sainz J., Jonsdottir G.M., GudjonssonS.A., Richardsson B., Sigurdardottir S., Barnard J., HallbeckB., Masson G., Shlien A., Palsson S.T., Frigge M.L.,Thorgeirsson T.E., Gulcher J.R., and Stefansson K. 2002. Ahigh-resolution recombination map of the human genome.Nat. Genet. 31: 241.Kruglyak L. 1999. Prospects for whole-genome linkage disequilibriummapping of common disease genes. Nat. Genet. 22: 139.Laan M. and Pääbo S. 1997. Demographic history and linkagedisequilibrium in human populations. Nat. Genet. 17: 435.Martinez-Arias R., Calafell F., Mateu E., Comas D., Andres A.,and Bertranpetit J. 2001. Sequence variability of a humanpseudogene. Gen. Res. 11: 1071.Mateu E., Perez-Lezaun A., Martinez-Arias R., Andres A.,Valles M., Bertranpetit J., and Calafell F. 2002. PKLR-GBAregion shows almost complete linkage disequilibrium over70 kb in a set of worldwide populations. Hum. Genet. 110:532.Mateu E., Calafell F., Lao O., Bonne-Tamir B., Kidd J.R., PakstisA., Kidd K.K., and Bertranpetit J. 2001. Worldwide geneticanalysis of the CFTR region. Am. J. Hum. Genet. 68: 103.Meng Z., Zaykin D.V., Xu C.F., Wagner M., and Ehm M.G.2003. Selection of genetic markers for association analyses,using linkage disequilibrium and haplotypes. Am. J. Hum.Genet. 73: 115.Navarro A. and Barton N.H. 2002. The effect of multilocus balancingselection on neutral variability. Genetics 161: 849.Navarro A., Betran E., Zapata C., and Ruiz A. 1996. Dynamicsof gametic disequilibria between loci linked to chromosomeinversions: The recombination redistributing effect of inversions.Genet. Res. 67: 67.Nordborg M. and Tavare S. 2002. Linkage disequilibrium: Whathistory has to tell us. Trends Genet. 18: 83.Osier M.V., Pakstis A.J., Soodyall H., Comas D., Goldman D.,Odunsi A., Okonofua F., Parnas J., Schulz L.O., BertranpetitJ., Bonne-Tamir B., Lu R.B., Kidd J.R., and Kidd K.K. 2002.A global perspective on genetic variation at the ADH genesreveals unusual patterns of linkage disequilibrium and diversity.Am. J. Hum. Genet. 71: 84.Patil N., Berno A.J., Hinds D.A., Barrett W.A., Doshi J.M.,Hacker C.R., Kautzer C.R., Lee D.H., Marjoribanks C., Mc-Donough D.P., Nguyen B.T., Norris M.C., Sheehan J.B., ShenN., Stern D., Stokowski R.P., Thomas D.J., Trulson M.O.,Vyas K.R., Frazer K.A., Fodor S.P., and Cox D.R. 2001.Blocks of limited haplotype diversity revealed by high-resolutionscanning of human chromosome 21. Science 294: 1719.Pérez-Lezaun A., Calafell F., Mateu E., Comas D., Ruiz-Pacheco R., and Bertranpetit J. 1997. Microsatellite variationand the differentiation of modern humans. Hum. Genet. 99: 1.Pritchard J.K. 2001. Are rare variants responsible for susceptibilityto complex diseases? Am. J. Hum. Genet. 69: 124.Pritchard J. and Przeworski M. 2001. Linkage disequilibrium inhumans: Models and data. Am. J. Hum. Genet. 69: 1.Przeworski M. and Wall J.D. 2001. Why is there so little intrageniclinkage disequilibrium in humans? Genet. Res. 77: 143.Przeworski M., Hudson R.R., and Di Rienzo A. 2000. Adjustingthe focus on human variation. Trends Genet. 16: 296.Reich D.E. and Lander E.S. 2001. On the allelic spectrum of humandisease. Trends Genet. 17: 502.Reich D.E., Schaffner S.F., Daly M.J., McVean G., Mullikin J.C.,Higgins J.M., Richter D.J., Lander E.S., and Altshuler D. 2002.Human genome sequence variation and the influence of genehistory, mutation and recombination. Nat. Genet. 32: 135.Reich D.E., Cargill M., Bolk S., Ireland J., Sabeti P.C., RichterD.J., Lavery T., Kouyoumjian R., Farhadian S.F., Ward R.,and Lander E.S. 2001. Linkage disequilibrium in the humangenome. Nature 411: 199.Romualdi C., Balding D., Nasidze I.S., Risch G., Robichaux M.,Sherry S.T., Stoneking M., Batzer M.A., and Barbujani G.2002. Patterns of human diversity, within and among continents,inferred from biallelic DNA polymorphisms. GenomeRes. 12: 602.Sabeti P.C., Reich D.E., Higgins J.M., Levine H.Z., Richter D.J.,Schaffner S.F., Gabriel S.B., Platko J.V., Patterson N.J., Mc-Donald G.J., Ackerman H.C., Campbell S.J., Altshuler D.,Cooper R., Kwiatkowski D., Ward R., and Lander E.S. 2002.Detecting recent positive selection in the human genome fromhaplotype structure. Nature 419: 832.Stumpf M.P. 2002. Haplotype diversity and the block structureof linkage disequilibrium. Trends Genet. 18: 226.Tishkoff S.A., Dietzsch E., Speed W., Pakstis A.J., Kidd J.R.,Cheung K., Bonne-Tamir B., Santachiara-Benerecetti A.S.,Moral P., and Krings M. 1996. Global patterns of linkage disequilibriumat the CD4 locus and modern human origins. Science271: 1380.Tishkoff S.A., Goldman A., Calafell F., Speed W.C., DeinardA.S., Bonne-Tamir B., Kidd J.R., Pakstis A.J., Jenkins T., andKidd K.K. 1998. A global haplotype analysis of the myotonicdystrophy locus: Implications for the evolution of modern humansand for the origin of myotonic dystrophy mutations. Am.J. Hum. Genet. 62: 1389.Tishkoff S.A., Pakstis A.J., Stoneking M., Kidd J.R., Destro-Bisol G., Sanjantila A., Lu R.B., Deinard A.S., Sirugo G.,Jenkins T., Kidd K.K., and Clark A.G. 2000. Short tandem-repeatpolymorphism/alu haplotype variation at the PLAT locus:Implications for modern human origins. Am. J. Hum.Genet. 67: 901.Tishkoff S.A., Varkonyi R., Cahinhinan N., Abbes S., ArgyropoulosG., Destro-Bisol G., Drousiotou A., Dangerfield B.,Lefranc G., Loiselet J., Piro A., Stoneking M., Tagarelli A.,Tagarelli G., Touma E.H., Williams S.M., and Clark A.G.2001. Haplotype diversity and linkage disequilibrium at humanG6PD: Recent origin of alleles that confer malarial resistance.Science 293: 455.Wall J.D. and Pritchard J.K. 2003a. Assessing the performanceof the haplotype block model of linkage disequilibrium. Am.J. Hum. Genet. 73: 502.—-. 2003b. Haplotype blocks and linkage disequilibrium in thehuman genome. Nat. Rev. Genet. 4: 587.Zhang K., Calabrese P., Nordborg M., and Sun F. 2002. Haplotypeblock structure and its applications to association studies:Power and study designs. Am. J. Hum. Genet. 71: 1386.Zhang K., Akey J.M., Wang N., Xiong M., Chakraborty R., andJin L. 2003. Randomly distributed crossovers may generateblock-like patterns of linkage disequilibrium: An act of geneticdrift. Hum. Genet. 113: 51.