Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population

American Journal of Medical Genetics

Volumn 64, Issue 1, 1996, Pages 216-219

  Chiurazzi, P ^a,c   Destro Bisol, G ^b   Genuardi, M ^a   Oostra, B A ^c   Spedini, G ^b   Neri, G ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

Africa; FMR1 locus microsatellite markers; gene diversity

Indexed keywords

AFRICA; ALLELISM; ARTICLE; CLINICAL ARTICLE; EVOLUTION; FEMALE; FRAGILE X SYNDROME; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; POPULATION GENETICS; PRIORITY JOURNAL;

AFRICA SOUTH OF THE SAHARA; CHROMOSOME MAPPING; DNA, SATELLITE; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HETEROZYGOTE; HUMANS; MALE; NERVE TISSUE PROTEINS; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEATS; VARIATION (GENETICS);

PRIMATES;

EID: 0029941133     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960712)64:1<216::AID-AJMG39>3.0.CO;2-O     Document Type: Article

References (31)

1. Arinami T, Asano M, Kobayashi K, Yanagi H, Hamaguchi H (1993): Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a sub-group of normal alleles predisposing to mutate. Hum Genet 92: 431-436.
2. Bowcock AM, Ruiz-Linares A, Tomfohrde J, Minch E, Kidd JR, Cavalli-Sforza LL (1994): High resolution of human evolutionary trees with polymorphic microsatellites. Nature 368:455-457.
3. Cavalli-Sforza LL (1991): Genes, peoples and languages. Sci Am 265:72-78.
4. Cavalli-Sforza LL, Piazza A (1993): Human genomic diversity in Europe: A summary of recent research and prospects for the future. Eur J Hum Genet 1:3-18.
5. Chiurazzi P, Genuardi M, Kozak L, Giovannucci-Uzielli ML, Bussani C, Dagna-Bricarelli F, Grasso M, Perrone L, Sebastio G, Sperandeo MP, Oostra BA, Neri G (1996): Fragile X founder chromosomes in Italy: Few initial events and possible explanation for their heterogeneity. Am J Med Genet 64:209-215.
6. Deelen W, Bakker C, Halley DJJ, Oostra BA (1994): Conservation of CGG region in FMR1 gene in mammals. Am J Med Genet 51:513-516.
7. Deka R, Jin L, Shriver MD, Yu LM, DeCroo S, Hundrieser J, Bunker CH, Ferrell RE, Chakraborty R (1995): Population genetics of dinucleotide (CA)(GT) polymorphism in world populations. Am J Hum Genet 56:461-474.
8. Destro-Bisol G, Presciuttini S, d'Aloja E, Dobosz M, Spedini G, Pascali VL (1994): Genetic variation at the ApoB 3′ HVR, D2S44, and D7S21 loci in the Ewondo ethnic group of Cameroon. Am J Hum Genet 55:168-174.
9. Di Rienzo A, Peterson AC, Garza JC, Valdes AM, Slatkin M, Freimer NB (1994): Mutational processes of simple-sequence repeat loci in human populations. Proc Natl Acad Sci 91:3166-3170.
10. Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fenwick RG, Warren ST, Oostra BA, Nelson DL, Caskey CT (1991): Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 67:1047-1058.
11. Gibbons A (1995): Out of Africa-at last? Science 267:1272-1273.
12. Goldman A, Ramsay M, Jenkins T (1994): Absence of myotonic dystrophy in southern African negroids is associated with a significantly lower number of CTG trinucleotide repeats. J Med Genet 31:37-40.
13. Greenberg JH (1980): Classification des langues d'Afrique. In J. Ki Zerbo (ed): "Histoire generale d'Afrique" tome I. Paris: Jeune Afrique/Unesco, pp 321-338.
14. Howard-Peebles PN, Stoddard GR (1980): Race distribution in X-linked mental retardation with macro-orchidism and fragile site in Xq. Am J Hum Genet 32:629-630.
15. Macpherson JN, Bullman H, Youings SA, Jacobs PA (1994): Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation. Hum Mol Genet 3:399-405.
16. Mandel JL (1994): Trinucleotide diseases on the rise. Nat Genet 7: 453-455.
17. Nei M (1987): "Molecular Evolutionary Genetics." New York: Columbia University Press.
18. Paabo S (1995): The Y chromosome and the origin of all of us (men). Science 268:1141-1142.
19. Richards RI, Holman K, Kozman H, Kremer E, Lynch M, Pritchard M, Yu S, Mulley J, Sutherland GR (1991): Fragile X syndrome: genetic localization by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. J Med Genet 28:818-823.
20. Richards RI, Holman K, Friend K, Kremer E, Hillen D, Staples A, Brown WT, Goonewardena P, Tarleton J, Schwartz C, Sutherland GR (1992): Evidence of founder chromosomes in fragile X syndrome. Nat Genet 1:257-260.
21. Richards RI, Kondo I, Holman Kn K, Yamauchi M, Seki N, Kishi K, Staples A, Sutherland GR, Hori T (1994): Haplotype analysis at the FRAXA locus in the Japanese population. Am J Med Genet 51:412-416.
22. Riggins GJ, Sherman SL, Oostra BA, Sutcliffe JS, Feitell D, Nelson DL, van Oost BA, Smits APT, Ramos FJ, Pfender E, Kuhl DPA, Caskey CT, Warren ST (1992): Characterization of a highly polymorphic dinucleotide repeat 150 kb proximal to the fragile X site. Am J Med Genet 43:237-243.
23. Rogers AR, Jorde LB (1995): Genetic evidence of modern human origins. Human Biology 67:1-36.
24. Rubinsztein DC, Amos W, Leggo J, Goodburn S, Jain S, Li SH, Margolis RL, Ross CA, Ferguson-Smith MA (1995): Microsatellite evolution-evidence for directionality and variation in rate between species. Nat Genet 10:337-343.
25. Spedini G, Destro-Bisol G (1988): Etude anthropologique au Cameroun. Le peuplement ancien. Données archeologiques, linguistiques at anthropologiques. Antropologia Contemporanea 11:93-112.
26. Sutherland GR, Hecht F (1985): Racial distribution. In: "Fragile sites on human chromosomes." Oxford University Press, p 177.
27. Turner G, Webb T, Wake S, Robinson H (1996): The prevalence of the fragile X syndrome. Am J Med Genet 64:196-197.
28. Venter PA, Gericke GS, Dawson B, Op't Hof J (1981): A marker X chromosome associated with nonspecific male mental retardation. S Afr Med J 60:807-811.
29. Watkins WS, Bamshad M, Jorde LB (1995): Population genetics of trinucleotide repeat polymorphism. Hum Mol Genet 4:1485-1491.
30. Zhong N, Liu X, Gou S, Houck GE Jr, Li S, Dobkin C, Brown WT (1994): Distribution of FMR1 and associated microsatellite alleles in a normal Chinese population. Am J Med Genet 51:417-422.
31. Zhong N, Yang W, Dobkin C, Brown WT (1995): Fragile X gene instability: Anchoring AGGs and linked microsatellites. Am J Hum Genet 57:351-361.