Evolutionary History of the ADRB2 Gene in Humans

Slides:



Advertisements
Similar presentations
F B Allele group II E G U S V W Rec OS1 Substitution Rec OS2 Rec OS3 A B C Rec OS1 Rec OS2 Rec OS3 (-530 ~ -86) (-86 ~ +49) Fig. S1 Intragenic recombination.
Advertisements

A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea  Fernando L. Mendez, Joseph C.
A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color  Richard A. Sturm, David L.
Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa  Alan J. Mears, Linn Gieser, Denise.
The Heritage of Pathogen Pressures and Ancient Demography in the Human Innate- Immunity CD209/CD209L Region  Luis B. Barreiro, Etienne Patin, Olivier Neyrolles,
Florian J. Clemente, Alexia Cardona, Charlotte E. Inchley, Benjamin M
Genomic Patterns of Homozygosity in Worldwide Human Populations
Recent Male-Mediated Gene Flow over a Linguistic Barrier in Iberia, Suggested by Analysis of a Y-Chromosomal DNA Polymorphism  Matthew E. Hurles, Reiner.
CYP3A Variation and the Evolution of Salt-Sensitivity Variants
Jacek Majewski  The American Journal of Human Genetics 
Lucia Elena Alvarado Arnez, BS, Evaristo N
Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Human Toll-like Receptors  Michael Dannemann, Aida M.
Allan Award Lecture: On Jumping Fields and “Jumping Genes”
Evidence for Balancing Selection from Nucleotide Sequence Analyses of Human G6PD  Brian C. Verrelli, John H. McDonald, George Argyropoulos, Giovanni Destro-Bisol,
Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease
A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color  Richard A. Sturm, David L.
Haplotype Estimation Using Sequencing Reads
Tuuli Lappalainen, Stephen B. Montgomery, Alexandra C
Ethiopian Mitochondrial DNA Heritage: Tracking Gene Flow Across and Around the Gate of Tears  Toomas Kivisild, Maere Reidla, Ene Metspalu, Alexandra Rosa,
Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract  Christina L. Liquori, Yoshio Ikeda, Marcy Weatherspoon,
AZFc Deletions and Spermatogenic Failure: A Population-Based Survey of 20,000 Y Chromosomes  Steven G. Rozen, Janet D. Marszalek, Kathryn Irenze, Helen.
Maternal History of Oceania from Complete mtDNA Genomes: Contrasting Ancient Diversity with Recent Homogenization Due to the Austronesian Expansion  Ana T.
Emily C. Walsh, Kristie A. Mather, Stephen F
CYP3A Variation and the Evolution of Salt-Sensitivity Variants
Recent Male-Mediated Gene Flow over a Linguistic Barrier in Iberia, Suggested by Analysis of a Y-Chromosomal DNA Polymorphism  Matthew E. Hurles, Reiner.
Patterns of Genetic Coding Variation in a Native American Population before and after European Contact  John Lindo, Mary Rogers, Elizabeth K. Mallott,
John D. Rioux, Valerie A. Stone, Mark J
Analysis of High-Resolution HapMap of DTNBP1 (Dysbindin) Suggests No Consistency between Reported Common Variant Associations and Schizophrenia  Mousumi.
Characteristics of Neutral and Deleterious Protein-Coding Variation among Individuals and Populations  Wenqing Fu, Rachel M. Gittelman, Michael J. Bamshad,
Mamoru Kato, Yusuke Nakamura, Tatsuhiko Tsunoda 
Human Genomic Deletions Mediated by Recombination between Alu Elements
Haplotypes at ATM Identify Coding-Sequence Variation and Indicate a Region of Extensive Linkage Disequilibrium  Penelope E. Bonnen, Michael D. Story,
A Comprehensive Analysis of Recently Integrated Human Ta L1 Elements
A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation  David L. Duffy, Grant W. Montgomery, Wei.
E. Wang, Y. -C. Ding, P. Flodman, J. R. Kidd, K. K. Kidd, D. L
CAG Expansion in the Huntington Disease Gene Is Associated with a Specific and Targetable Predisposing Haplogroup  Simon C. Warby, Alexandre Montpetit,
Gene Conversion between the X Chromosome and the Male-Specific Region of the Y Chromosome at a Translocation Hotspot  Zoë H. Rosser, Patricia Balaresque,
Disrupted in Schizophrenia 1 (DISC1): Association with Schizophrenia, Schizoaffective Disorder, and Bipolar Disorder  Colin A. Hodgkinson, David Goldman,
Highly Punctuated Patterns of Population Structure on the X Chromosome and Implications for African Evolutionary History  Charla A. Lambert, Caitlin F.
Michael A. Rogers, Hermelita Winter, Christian Wolf, Jürgen Schweizer 
Complex Signatures of Natural Selection at the Duffy Blood Group Locus
Molecular Analysis of the β-Globin Gene Cluster in the Niokholo Mandenka Population Reveals a Recent Origin of the βS Senegal Mutation  Mathias Currat,
A modest but significant effect of CGB5 gene promoter polymorphisms in modulating the risk of recurrent miscarriage  Kristiina Rull, M.D., Ph.D., Ole.
Evidence for Variable Selective Pressures at MC1R
Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase  Daniel Shriner, Charles N. Rotimi  The.
Janet M. Young, RaeLynn M. Endicott, Sean S
Complete Haplotype Sequence of the Human Immunoglobulin Heavy-Chain Variable, Diversity, and Joining Genes and Characterization of Allelic and Copy-Number.
Phylogenetic Network for European mtDNA
Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium  Christopher S. Carlson,
Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations  Wen-Ya Ko, Prianka Rajan, Felicia Gomez, Laura.
A Second Recombination Hotspot Associated with SHOX Deletions
Stephen Wooding, Un-kyung Kim, Michael J
S. Fernandes, S. Paracchini, L. H. Meyer, G. Floridia, C
Are Variants in the CAPN10 Gene Related to Risk of Type 2 Diabetes
A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23  Young-Ae Lee, Howard P.
NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes  Jenny Douglas,
Anne C. Stone, Mark Stoneking  The American Journal of Human Genetics 
On the Etruscan Mitochondrial DNA Contribution to Modern Humans
Lactase Haplotype Diversity in the Old World
Matthew A. Saunders, Jeffrey M. Good, Elizabeth C. Lawrence, Robert E
Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related.
A Highly Unstable Recent Mutation in Human mtDNA
Messages through Bottlenecks: On the Combined Use of Slow and Fast Evolving Polymorphic Markers on the Human Y Chromosome  Peter de Knijff  The American.
A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea  Fernando L. Mendez, Joseph C.
Darryl Y. Nishimura, Ruth E. Swiderski, Charles C. Searby, Erik M
Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Human Toll-like Receptors  Michael Dannemann, Aida M.
The Heritage of Pathogen Pressures and Ancient Demography in the Human Innate- Immunity CD209/CD209L Region  Luis B. Barreiro, Etienne Patin, Olivier Neyrolles,
Warfarin Pharmacogenetics: CYP2C9 and VKORC1 Genotypes Predict Different Sensitivity and Resistance Frequencies in the Ashkenazi and Sephardi Jewish.
Allan Award Lecture: On Jumping Fields and “Jumping Genes”
Haplotypes in the Dystrophin DNA Segment Point to a Mosaic Origin of Modern Human Diversity  Ewa Ziętkiewicz, Vania Yotova, Dominik Gehl, Tina Wambach,
Presentation transcript:

Evolutionary History of the ADRB2 Gene in Humans Richard H. Wilson, Colin N. Moran, John J. Cole, Yannis P. Pitsiladis, Mark E.S. Bailey  The American Journal of Human Genetics  Volume 86, Issue 3, Pages 490-493 (March 2010) DOI: 10.1016/j.ajhg.2010.01.031 Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 1 Evolutionary Network for the Common Haplotypes of Human ADRB2 Substituted and polymorphic sites in ADRB2 are listed along the branches the mutation occurred in. Sites different in macaque but identical in human and chimpanzee are counted but not listed. Nodes connecting lines represent common ancestral haplotypes and are labeled. Sites are coded by position in the aligned human sequence relative to the first base of the initiation codon, derived allele, and whether the change involved insertion or deletion. Insertions and deletions were treated as single mutational events for calculation of the network regardless of the number of bases altered. Within the C tract at position 1275, the coappearance of adjacent G and C inserted bases were treated as a single mutation (see Table 1). Major haplogroups are indicated in shaded boxes. Within each box, these are coded as Cagliani et al. haplogroup (e.g., “HC2”), Hawkins et al. haplogroup (e.g., “2.1”), and C16/C27 functional SNP haplogroup (e.g., “GG”). GCt refers to the rare C164 derived haplotype not considered by Cagliani et al.1 Branches rejoining below a node represent formation of a new haplotype via recombination. Regions contributed by each parental haplotype and regions of recombination are indicated with “<” and “>.” Rare, population-specific polymorphic sites have not been shown on this network. The American Journal of Human Genetics 2010 86, 490-493DOI: (10.1016/j.ajhg.2010.01.031) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 2 Substitution and Polymorphism Rates across the ADRB2 Region Number of substitutions per kbp are plotted, on a logarithmic scale, versus position along the genomic region analyzed for central points in a sliding window of 500 bp, with step size of 200 bp. Base position 1 is the first base of the initiation codon. The black and white bar represents the ADRB2 coding region and UTRs, respectively. The American Journal of Human Genetics 2010 86, 490-493DOI: (10.1016/j.ajhg.2010.01.031) Copyright © 2010 The American Society of Human Genetics Terms and Conditions