Superimposing polymorphism: The case of a point mutation within a polymorphic Alu insertion

Human Heredity

Volumn 59, Issue 2, 2005, Pages 109-117

  Martinez, Laisel ^a   Reategui, Erika P ^a   Fonseca, Libia R ^a   Sierra Montes, Julie M ^a   Terreros, Maria C ^a   Pereira Simon, Simone ^a   Herrera, Rene J ^a  

^a FLORIDA INTERNATIONAL UNIVERSITY   (United States)

Author keywords

Alu; COL3A1 gene; Genetic markers; PAI; Polymorphism; SNP

Indexed keywords

ALLELE; ALU SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; COL3A1 GENE; CONTROLLED STUDY; GENE; GENE INSERTION; GENE LOCUS; GENETIC POLYMORPHISM; HUMAN; MAJOR CLINICAL STUDY; POINT MUTATION; POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

AFRICA; ALU ELEMENTS; ASIA; BASE SEQUENCE; COLLAGEN TYPE III; CONTINENTAL POPULATION GROUPS; EUROPE; GENETICS, POPULATION; HUMANS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

PRIMATES;

EID: 21044440763     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000085225     Document Type: Article

References (25)

1. Novick GE, Batzer MA, Deininger PL, Herrera RJ: The mobile genetic element Alu in the human genome. BioScience 1996;46:32-41.
2. Batzer MA, Deininger PL: Alu repeats and human genomic diversity. Nature 2002;3:370-380.
3. Roy-Engel AM, Salem A-H, Oyeniran OO, Deininger L, Hedges DJ, Kilroy GE, Batzer MA, Deininger PL: Active Alu element 'A-tails': Size does matter. Genome Res 2002;12:1333-1344.
4. Zietkiewicz E, Richer C, Sinnett D, Labuda D: Monophyletic origin of Alu elements in primates. J Mol Evol 1998;47:172-182.
5. Watanabe H, Fujiyama A, Hattori M, Taylor TD, Toyoda A, Kuroki Y, Noguchi H, Ben-Kahla A, Lehrach H, Sudbrak R, Kube M, Taenzer S, Galgoczy P, Platzer M, Scharfe M, Nordsiek G, Blocker H, Hellmann I, Khaitovich P, Paabo S, Reinhardt R, Zheng HJ, Zhang XL, Zhu GF, Wang BF, Fu G, Ren SX, Zhao GP, Chen Z, Lee YS, Cheong JE, Choi SH, Wu KM, Liu TT, Hsiao KJ, Tsai SF, Kim CG, OOta S, Kitano T, Kohara Y, Saitou N, Park HS, Wang SY, Yaspo ML, Sakaki Y: DNA sequence and comparative analysis of chimpanzee chromosome 22. Nature 2004;429:382-388.
6. Rowold DJ, Herrera RJ: Alu elements and the human genome. Genetica 2000;108:57-72.
7. Batzer MA, Deininger PL, Hellmann-Blumberg U, Jurka J, Labuda D, Rubin CM, Schmid CW, Zietkiewicz E, Zuckerkandl E: Standardized nomenclature for Alu repeats. J Mol Evol 1996;42:3-6.
8. Britten RJ: Evidence that most human Alu sequences were inserted in a process that ceased about 30 million years ago. Proc Natl Acad Sci USA 1994;91:6148-6150.
9. Milewicz DM, Byers PH, Reveille J, Hughes AL, Duvic M: A dimorphic Alu Sb-like insertion in COL3A1 is ethnic-specific. J Mol Evol 1996;42:117-123.
10. Roy-Engel AM, Carroll ML, Vogel E, Garber RK, Nguyen SV, Salem AH, Batzer MA, Deininger PL: Alu insertion polymorphisms for the study of human genomic diversity. Genetics 2001;159:279-290.
11. Sambrook J, Russell DW: Molecular Cloning: a Laboratory Manual. New York, Cold Spring Harbor Laboratory Press, 2001.
12. Martinez L, Almagro JC, Coll JL, Herrera RJ: Sequence variability in the fibroin-H intron of domesticated and wild silk moths. Insect Biochem Mol Biol 2004;34:343-352.
13. Batzer MA, Stoneking M, Alegria-Hartman M, Bazan H, Kass DH, Shaikh TH, Novick GE, Ioannou PA, Scheer WD, Herrera RJ, Deininger PL: African origin of human-specific polymorphic Alu insertions. Proc Natl Acad Sci USA 1994;91:12288-12292.
14. Comas D, Calafell F, Benchemsi N, Helal A, Lefranc G, Stoneking M, Batzer MA, Bertranpetit J, Sajantila A: Alu insertion polymorphisms in NW Africa and the Iberian Peninsula: Evidence for a strong genetic boundary through the Gibraltar Straits. Hum Genet 2000;107:312-319.
15. De Pancorbo MM, Lopez-Martinez M, Martinez-Bouzas C, Castro A, Fernandez-Fernandez I, Antunez de Mayolo G, Antunez de Mayolo A, Antunez de Mayolo P, Rowold DJ, Herrera RJ: The Basques according to polymorphic Alu insertions. Hum Genet 2001;109:224-233.
16. Watkins WS, Ricker CE, Bamshad MJ, Carroll ML, Nguyen SV, Batzer MA, Harpending HC, Rogers AR, Jorde LB: Patterns of ancestral human diversity: an analysis of Alu-insertion and restriction-site polymorphisms. Am J Hum Genet 2001;68:738-752.
17. Novick GE, Gonzalez T, Garrison J, Novick CC, Batzer MA, Deininger PL, Herrera RJ: The use of polymorphic Alu insertions in human DNA fingerprinting. EXS 1993;67:283-291.
18. Novick GE, Menendez CM, Novick CC, Duncan G, Yunis J, Yunis E, Deininger PL, Batzer MA, Herrera RJ: The use of polymorphic Alu insertions as a new methodological alternative in human paternity testing and child identification. Int Ped 1994;9:60-68.
19. Arcot SS, Wang Z, Weber JL, Deininger PL, Batzer MA: Alu repeats: A source for the genesis of primate microsatellites. Genomics 1995;29:136-144.
20. Jurka J, Pethiyagoda C: Simple repetitive DNA sequences from primates: compilation and analysis. J Mol Evol 1995;40:120-126.
21. Economou EP, Bergen AW, Warren AC, Antonarakis SE: The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. Proc Natl Acad Sci 1990;87:2951-2954.
22. Jobling MA, Tyler-Smith C: The human Y chromosome: an evolutionary marker comes of age. Nature Rev Genet 2003;4:598-612.
23. Underhill PA, Passarino G, Lin AA, Shen P, Mirazon Lahr M, Foley RA, Oefner PJ, Cavalli-Sforza LL: The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations. Ann Hum Genet 2001;65:43-62.
24. Semino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, Beckman LE, De Benedictis G, Francalacci P, Kouvatsi A, Limborska S, Marcikiae M, Mika A, Mika B, Primorac D, Santachiara-Benerecetti AS, Cavalli-Sforza LL, Underhill PA: The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: A Y chromosome perspective. Science 2000;290:1155-1159.
25. Wells RS, Yuldasheva N, Ruzibakiev R, Underhill PA, Evseeva I, Blue-Smith J, Jin L, Su B, Pitchappan R, Shanmugalakshmi S, Balakrishnan K, Read M, Pearson NM, Zerjal T, Webster MT, Zholoshvili I, Jamarjashvili E, Gambarov S, Nikbin B, Dostiev A, Aknazarov O, Zalloua P, Tsoy I, Kitaev M, Mirrakhimov M, Chariev A, Bodmer WF: The Eurasian heartland: a continental perspective on Y-chromosome diversity. Proc Natl Acad Sci USA 2001;98:10244-10249.