Short Tandem-Repeat Polymorphism/Alu Haplotype Variation at the PLAT Locus: Implications for Modern Human Origins S.A. Tishkoff, A.J. Pakstis, M. Stoneking,

Slides:

Advertisements

Similar presentations

What does it mean, in practice? 100%. Members of our community are only slightly less different from us than members of distant populations 85% 100%

Advertisements

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.

Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea Fernando L. Mendez, Joseph C.

Current sequencing technology makes microhaplotypes a powerful new type of genetic marker for forensics Kenneth K. Kidd, Andrew J. Pakstis, William C.

Michael Dannemann, Janet Kelso The American Journal of Human Genetics

The Heritage of Pathogen Pressures and Ancient Demography in the Human Innate- Immunity CD209/CD209L Region Luis B. Barreiro, Etienne Patin, Olivier Neyrolles,

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Barbara Arredi, Estella S

CYP3A Variation and the Evolution of Salt-Sensitivity Variants

Ancestral Asian Source(s) of New World Y-Chromosome Founder Haplotypes

Human Diallelic Insertion/Deletion Polymorphisms

Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Human Toll-like Receptors Michael Dannemann, Aida M.

An Extensive Analysis of Y-Chromosomal Microsatellite Haplotypes in Globally Dispersed Human Populations Manfred Kayser, Michael Krawczak, Laurent Excoffier,

Y-Chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age Bing Su, Junhua Xiao, Peter Underhill, Ranjan.

Meta-analysis of Genetic-Linkage Analysis of Quantitative-Trait Loci

Evidence for Balancing Selection from Nucleotide Sequence Analyses of Human G6PD Brian C. Verrelli, John H. McDonald, George Argyropoulos, Giovanni Destro-Bisol,

A Back Migration from Asia to Sub-Saharan Africa Is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes Fulvio Cruciani, Piero Santolamazza,

Haplotypes and Linkage Disequilibrium at the Phenylalanine Hydroxylase Locus, PAH, in a Global Representation of Populations Judith R. Kidd, Andrew J.

Alessia Ranciaro, Michael C. Campbell, Jibril B

Polymorphisms in the Low-Density Lipoprotein Receptor–Related Protein 5 (LRP5) Gene Are Associated with Variation in Vertebral Bone Mass, Vertebral Bone.

Proportioning Whole-Genome Single-Nucleotide–Polymorphism Diversity for the Identification of Geographic Population Structure and Genetic Ancestry Oscar.

Michael Dannemann, Janet Kelso The American Journal of Human Genetics

Geographically Separate Increases in the Frequency of the Derived ADH1B*47His Allele in Eastern and Western Asia Hui Li, Namita Mukherjee, Usha Soundararajan,

Structural Analysis of Insulin Minisatellite Alleles Reveals Unusually Large Differences in Diversity between Africans and Non-Africans John D.H. Stead,

The β-Globin Recombinational Hotspot Reduces the Effects of Strong Selection around HbC, a Recently Arisen Mutation Providing Resistance to Malaria Elizabeth.

CYP3A Variation and the Evolution of Salt-Sensitivity Variants

Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion Rýdvan S. Özen, Bora E. Baysal,

Howard B. Yeon, Noralane M. Lindor, J.G. Seidman, Christine E. Seidman

Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region

Ellen E. Quillen, Mark D. Shriver Journal of Investigative Dermatology

Contrasting Effects of Natural Selection on Human and Chimpanzee CC Chemokine Receptor 5 Stephen Wooding, Anne C. Stone, Diane M. Dunn, Srinivas Mummidi,

Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin Shagufta Khaliq,

NRY haplogroups distribution in sub-Saharan Africa and Bantu expansion

Haplotypes at ATM Identify Coding-Sequence Variation and Indicate a Region of Extensive Linkage Disequilibrium Penelope E. Bonnen, Michael D. Story,

A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24 C. Kok, M.L. Kennerson, P.J. Spring, A.J. Ing,

E. Wang, Y. -C. Ding, P. Flodman, J. R. Kidd, K. K. Kidd, D. L

Multiple Origins of Ashkenazi Levites: Y Chromosome Evidence for Both Near Eastern and European Ancestries Doron M. Behar, Mark G. Thomas, Karl Skorecki,

Different Genetic Components in the Ethiopian Population, Identified by mtDNA and Y- Chromosome Polymorphisms Giuseppe Passarino, Ornella Semino, Lluís.

Koji Suzuki, Tania Bustos, Richard A. Spritz

Shuhua Xu, Wei Huang, Ji Qian, Li Jin

Erratum The American Journal of Human Genetics

Microhaplotype loci are a powerful new type of forensic marker

Evidence for Variable Selective Pressures at MC1R

Benjamin A. Rybicki, Robert C. Elston

Dara G. Torgerson, Daniel Capurso, Rasika A. Mathias, Penelope E

Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11.

Benjamin A. Rybicki, José L. Walewski, Mary J

Genetic Analysis of Meiotic Recombination in Humans by Use of Sperm Typing: Reduced Recombination within a Heterozygous Paracentric Inversion of Chromosome.

Haplotype Diversity across 100 Candidate Genes for Inflammation, Lipid Metabolism, and Blood Pressure Regulation in Two Populations Dana C. Crawford,

Human Population Genetic Structure and Inference of Group Membership

Ethnicity and Human Genetic Linkage Maps

Volume 78, Issue 7, Pages (October 2010)

Yoav Gilad, Carlos D. Bustamante, Doron Lancet, Svante Pääbo

Rational Inferences about Departures from Hardy-Weinberg Equilibrium

Features of Evolution and Expansion of Modern Humans, Inferred from Genomewide Microsatellite Markers Lev A. Zhivotovsky, Noah A. Rosenberg, Marcus W.

Jung-Ying Tzeng, Chih-Hao Wang, Jau-Tsuen Kao, Chuhsing Kate Hsiao

Haplotypes and Linkage Disequilibrium at the Phenylalanine Hydroxylase Locus, PAH, in a Global Representation of Populations Judith R. Kidd, Andrew J.

Lactase Haplotype Diversity in the Old World

Can a Place of Origin of the Main Cystic Fibrosis Mutations Be Identified? Eva Mateu, Francesc Calafell, Maria Dolors Ramos, Teresa Casals, Jaume Bertranpetit

A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea Fernando L. Mendez, Joseph C.

The Heritage of Pathogen Pressures and Ancient Demography in the Human Innate- Immunity CD209/CD209L Region Luis B. Barreiro, Etienne Patin, Olivier Neyrolles,

Brian C. Verrelli, Sarah A. Tishkoff

A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13 I.A. Meijer, C.K. Hand, K.K. Grewal, M.G. Stefanelli, E.J. Ives,

Haplotypes in the Dystrophin DNA Segment Point to a Mosaic Origin of Modern Human Diversity Ewa Ziętkiewicz, Vania Yotova, Dominik Gehl, Tina Wambach,

Mapping of a New SGBS Locus to Chromosome Xp22 in a Family with a Severe Form of Simpson-Golabi-Behmel Syndrome L.M. Brzustowicz, S. Farrell, M.B. Khan,

The Size Distribution of Homozygous Segments in the Human Genome

Genetic Analysis of Families with Parkinson Disease that Carry the Ala53Thr Mutation in the Gene Encoding α-Synuclein Aglaia Athanassiadou, Gerassimos.

Presentation transcript:

Short Tandem-Repeat Polymorphism/Alu Haplotype Variation at the PLAT Locus: Implications for Modern Human Origins S.A. Tishkoff, A.J. Pakstis, M. Stoneking, J.R. Kidd, G. Destro-Bisol, A. Sanjantila, R.-b. Lu, A.S. Deinard, G. Sirugo, T. Jenkins, K.K. Kidd, A.G. Clark The American Journal of Human Genetics Volume 67, Issue 4, Pages 901-925 (October 2000) DOI: 10.1086/303068 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Diagram of PLAT gene structure, showing location of the polymorphic PLAT Alu and the (CA)n-1 and (CA)n-2 STRPs used in the haplotype analysis. Exons are shown as blackened boxes. The American Journal of Human Genetics 2000 67, 901-925DOI: (10.1086/303068) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 Global distribution of populations included in the PLAT haplotype study. 1 = Biaka; 2 = Mbuti; 3 = Wolof; 4 = Ewondo; 5 = Bamileke; 6 = Bantu-speakers; 7 = Herero; 8 = Zu/Wasi !Kung San; 9 = Kwengo; 10 = Nama; 11 = Va/Sekele !Kung San; 12 = Ethiopians; 13 = Somali; 14 = Papua New Guineans; 15 = Micronesians; 16 = Nasioi Melanesians; 17 = Ami; 18 = Atayal; 19 = Chinese; 20 = Japanese; 21 = Yakut; 22 = Yemenites; 23 = Druze; 24 = Danes; 25 = Finns; 26 = Maya; 27 = Cheyenne; 28 = Ticuna; 29 = Surui; 30 = Karitiana. The American Journal of Human Genetics 2000 67, 901-925DOI: (10.1086/303068) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 Haplotype-frequency distributions of (CA)n-1 STRPs (A) and (CA)n-2 STRPs (B), on Alu(+) and Alu(−) chromosomes from a globally diverse subset of the populations included in this study. STRP allele sizes are shown on the X-axis. Alu(+) haplotypes are shown as unblackened bars, and Alu(−) haplotypes are shown as blackened bars. The American Journal of Human Genetics 2000 67, 901-925DOI: (10.1086/303068) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 Haplotype-frequency distributions of (CA)n-1 STRPs (A) and (CA)n-2 STRPs (B), on Alu(+) and Alu(−) chromosomes from a globally diverse subset of the populations included in this study. STRP allele sizes are shown on the X-axis. Alu(+) haplotypes are shown as unblackened bars, and Alu(−) haplotypes are shown as blackened bars. The American Journal of Human Genetics 2000 67, 901-925DOI: (10.1086/303068) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 4 PCA plot of populations, based on haplotype-frequency variation. ○ = Sub-Saharan African populations; + = northeastern-African populations; ▵ = European and Middle Eastern populations; * = Oceanic populations; ○ = Asian populations; ▪ = New World populations; 1 = Biaka; 2 = Mbuti; 3 = Bantu-speakers; 4 = Ewondo; 5 = Bamileke; 6 = Wolof; 7 = Herero; 8 = Zu/Wasi !Kung San; 9 = Kwengo; 10 = Nama; 11 = Va/Sekele !Kung San; 12 = Ethiopians; 13 = Somali; 14= Papua New Guineans; 15 = Micronesians; 16 = Nasioi Melanesians; 17 = Ami; 18 = Atayal; 19 = Chinese; 20 = Japanese; 21 = Yakut; 22 = Yemenites; 23 = Danes; 24 = Druze; 25 = Finns; 26 = Maya; 27 = Cheyenne; 28 = Ticuna; 29 = Surui; 30 = Karitiana. The American Journal of Human Genetics 2000 67, 901-925DOI: (10.1086/303068) Copyright © 2000 The American Society of Human Genetics Terms and Conditions