An unusual haplotype structure on human chromosome 8p23 derived from the inversion polymorphism

Human Mutation

Volumn 29, Issue 10, 2008, Pages 1209-1216

  Deng, Libin ^a,b   Zhang, Yuezheng ^a,b   Kang, Jian ^c   Liu, Tao ^b,d   Zhao, Hongbin ^a,b   Gao, Yang ^a,b   Li, Chaohua ^a   Pan, Hao ^a   Tang, Xiaoli ^a   Wang, Dunmei ^a   Niu, Tianhua ^e   Yang, Huanming ^a   Zeng, Changqing ^a  

^a Chinese Academy of Sciences and China National Center for Bioinformation   (China)

^b UNIVERSITY OF CHINESE ACADEMY OF SCIENCES   (China)

^c TSINGHUA UNIVERSITY   (China)

^d INSTITUTE OF BIOPHYSICS   (China)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Chromosome 8p23; Haplotype; Inversion polymorphism; Natural selection; SNPs

Indexed keywords

ARTICLE; CHROMOSOME 8P; CHROMOSOME INVERSION; CHROMOSOME POLYMORPHISM; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CLUSTER; GENE MAPPING; GENE STRUCTURE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; METAPHASE; NATURAL SELECTION; PHYLOGENY; PRIORITY JOURNAL; RACE DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; GENETIC VARIATION; GENETICS, POPULATION; GENOME, HUMAN; HAPLOTYPES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; PHYLOGENY; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 55349099514     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20775     Document Type: Article

References (25)

1. Akey JM, Zhang G, Zhang K, Jin L, Shriver MD. 2002. Interrogating a high-density SNP map for signatures of natural selection. Genome Res 12:1805-1814.
2. Appel S, Filter M, Reis A, Hennies HC, Bergheim A, Ogilvie E, Arndt S, Simmons A, Lovett M, Hide W, Ramsay M, Reichwald K, Zimmermann W, Rosenthal A. 2002. Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. Eur J Hum Genet 10:17-25.
3. Bansal V, Bashir A, Bafna V. 2007. Evidence for large inversion polymorphisms in the human genome from HapMap data. Genome Res 17:219-230.
4. Chimpanzee Sequencing and Analysis Consortium. 2005. Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437:69-87.
5. Currat M, Excoffier L, Maddison W, Otto SP, Ray N, Whitlock MC, Yeaman S. 2006. Comment on "Ongoing Adaptive Evolution of ASPM, a Brain Size Determinant in Homo sapiens" and "Microcephalin, a Gene Regulating Brain Size, Continues to Evolve Adaptively in Humans". Science 313:172a.
6. Feuk L, Carson AR, Scherer SW. 2006. Structural variation in the human genome. Nat Rev Genet 7:85-97.
7. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D. 2002. The structure of haplotype blocks in the human genome. Science 296:2225-2229.
8. Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O. 2001. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 68:874-883.
9. Hamblin MT, Veuille M. 1999. Population structure among African and derived populations of Drosophila simulans: evidence for ancient subdivision and recent admixture. Genetics 153:305-317.
10. Hoffmann AA, Sgro CM, Weeks AR. 2004. Chromosomal inversion polymorphisms and adaptation. Trends Ecol Evol 19:482-488.
11. International HapMap Consortium. 2005. A haplotype map of the human genome. Nature 437:1299-1320.
12. Kent WJ. 2002. BLAT - the BLAST-like alignment tool. Genome Res 12:656-664.
13. Kumar S, Tamura K, Jakobsen IB, Nei M. 2001. MEGA2: molecular evolutionary genetics analysis software. Bioinformatics 17:1244-1245.
14. Lin Z, Altman RB. 2004. Finding haplotype tagging SNPs by use of principal components analysis. Am J Hum Genet 75:850-861.
15. Munte A, Rozas J, Aguade M, Segarra C. 2005. Chromosomal inversion polymorphism leads to extensive genetic structure: a multilocus survey in Drosophila subobscura. Genetics 169:1573-1581.
16. Pritchard JK, Przeworski M. 2001. Linkage disequilibrium in humans: models and data. Am J Hum Genet 69:1-14.
17. Rozas J, Gullaud M, Blandin G, Aguade M. 2001. DNA variation at the rp49 gene region of Drosophila simulans: evolutionary inferences from an unusual haplotype structure. Genetics 158:1147-1155.
18. Sabeti PC, Reich DE, Higgins JM, Levine HZ, Richter DJ, Schaffner SF, Gabriel SB, Platko JV, Patterson NJ, McDonald GJ, AcKerman HC, Campbell SJ, Altschuler D, Cooper R, Kwiatkowski D, Ward R, Lander ES. 2002. Detecting recent positive selection in the human genome from haplotype structure. Nature 419:832-837.
19. Schneider S, Roessli D, Excoffier L. 2000. Arlequin: a software for population genetics data analysis. Version 2.000. Genetics and Biometry Laboratory, Department of Anthropology, University of Geneva, Geneva, Switzerland.
20. Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, Barnard J, Baker A, Jonasdottir A, Ingason A, Gudnadottir VG, Desnica N, Hicks A, Gylfason A, Gudbjartsson DF, Jonsdottir GM, Sainz J, Agnarsson K, Birgisdottir B, Ghosh S, Olafsdottir A, Cazier JB, Kristjansson K, Frigge ML, Thorgeirsson TE, Gulcher JR, Kong A, Stefansson K. 2005. A common inversion under selection in Europeans. Nat Genet 37:129-137.
21. Stephens M, Donnelly P. 2003. A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73:1162-1169.
22. Sugawara H, Harada N, Ida T, Ishida T, Ledbetter DH, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. 2003. Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics 82:238-244.
23. Tang K, Thornton KR, Stoneking M. 2007. A new approach for using genome scans to detect recent positive selection in the human genome. PLoS Biol 5:e171.
24. Voight BF, Kudaravalli S, Wen X, Pritchard JK. 2006. A map of recent positive selection in the human genome. PLoS Biol 4:e72.
25. Wang ET, Kodama G, Baldi P, Moyzis RK. 2006. Global landscape of recent inferred Darwinian selection for Homo sapiens. Proc Natl Acad Sci USA 103:135-140.