Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations

American Journal of Medical Genetics

Volumn 64, Issue 1, 1996, Pages 220-225

  Eichler, Evan E ^a,b   Nelson, David L ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b LAWRENCE LIVERMORE NATIONAL LABORATORY   (United States)

Author keywords

CGG repeat; fragile X syndrome; mutation rates; population genetics; X linked mental retardation

Indexed keywords

DNA;

ALLELISM; ARTICLE; CLINICAL ARTICLE; ETHNIC DIFFERENCE; FRAGILE X SYNDROME; FREQUENCY ANALYSIS; GENE LOCUS; GENE SEQUENCE; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; POPULATION GENETICS; PRIORITY JOURNAL;

EVOLUTION; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HETEROZYGOTE; HUMANS; MALE; NERVE TISSUE PROTEINS; PEDIGREE; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEATS; VARIATION (GENETICS);

EID: 0029980776     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960712)64:1<220::AID-AJMG40>3.0.CO;2-M     Document Type: Article

References (45)

1. Arinam T, Asano M, Kobayashi K, Yanag, 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 subgroup of normal alleles predisposing to mutate. Hum Genet 92: 431-436.
2. Bell GI, Torney DC (1993): Repetitive DNA sequences: Some considerations for simple sequence repeats. Computers Chem 17:185-190.
3. Bowcock AM, Ruiz-Linares A, Minch E, Kidd JR, Cavalli-Sforza LL (1994): High resolution of human evolutionary trees with polymorphic microsatellites. Nature 368:455-457.
4. Chakravarti A (1992): Fragile X founder effect? Nat Genet 1:237-238.
5. Dorit RL, Akashi H, Gilbert W (1995): Absence of polymorphim at the ZFY locus on the human Y chromosome. Science 268:1183-1185.
6. Edwards A, Hammond HA, Jin L, Caskey CT, Chakraborty R (1992): Genetic variation at five trimeric and tetrameric tandem repeat loci loci in four human population groups. Genomics 12:241-253.
7. Eichler EE, Hammond HA, Macpherson JN, Ward PA, Nelson, DL (1995): Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions. Hum Molec Genet 4:2199-2208.
8. Eichler EE, Holden JJA, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL (1994): Length of uninterrupted CGG repeats determines stability in the FMR1 gene. Nat Genet 8:88-94.
9. Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fenwick RG, Jr., 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.
10. Hästbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E (1992): Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in inland. Nature Genet 2:204-211.
11. Hirst MC, Grewal PK, Davies KE (1994): Precursor arrays for triplet repeat expansion at the fragile X locus. Hum Molec Genet 3: 1553-1560.
12. Horai S, Hayasaka K, Kondo R, Tsugane K, Takahata N (1995): Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proc Natl Acad Sci USA 92:532-536.
13. 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.
14. Kidd JR, Black FL, Weiss KM, Balazs I, Kidd KK (1991): Studies of three Amerindian populations using nuclear DNA polymorphisms. Hum. Biology 63:775-794.
15. Kremer EJ, Yu S, Pritchard M, Nagaraja R, Heitz D, Lynch M, Baker E, Hyland VJ, Little RD, Wada M, Toniolo D, Vincent A, Rousseau F, Schlessinger D, Sutherland GR, Richards RI (1991): Isolation of a human DNA sequence which spans the fragile X. Am J Hum Genet 49:656-661.
16. Kunst CB, Warren ST (1994): Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77: 853-861.
17. Kwiatkowski DJ, Henske EP, Weimer K, Ozelius L, Gusella JF, Haines J (1991): Construction of a GT polymorphism map of human 9q. Genomics 12:229-240.
18. Levinson G, Gutman GA (1986): Slipped-strand mispairing: A major mechanism for DNA sequence evolution. Molec Biol Evol 4:203-221.
19. Morris A, Morton NE, Collins A, Macpherson J, Nelson DL, Sherman S (1995): An n-allele model for progressive amplifcation in the FMR1 locus. Proc Natl Acad Sci USA 92:4833-4837.
20. Morton JE, Rindl PM, Bullock S, Bundey S, Webb T (1995): Fragile X syndrome is less common than previously estimated. J Med Genet 32:144-145.
21. Morton NE, Macpherson JN (1992): Population genetics of the fragile x syndrome: a multiallelic model for the FMR1 locus. Proc Natl Acad Sci USA 89:4215-4217.
22. Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL (1991): Instability of a 550-base pair DNA segment and abnormal ethylation in fragile X syndrome. Science 252:1097-1102.
23. Pieretti M, Zhang F, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL (1991): Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66:817-822.
24. Reiss AL, Kazazian HH, Jr., Krebs CM, McAughan A, Boehm CD, Abrams MT, Nelson DL (1994): Frequency and stability of the fragile X premutation. Hum Molec Genet 3:393-398.
25. Rhoads FA (1984): Fragile-X syndrome in Hawaii: A summary of clinical experience. Am J Med Genet 17:209-214.
26. 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.
27. Riggins GJ, Lokey LK, Chastain JL, Leiner HA, Sherman SL, Wilkinson KD, Warren ST (1992): Human genes containing polymorphic trinucleotide repeats. Nature Genet 2:186-191.
28. Rivera H, Hernandez L, Plascenia J, Sanchez-Corona J, Garcia-Cruz D, Cantu JM (1981): Some observations on the mental deficiency of normo-functional testicular hyperplasia and fra(X)(q28) chromosome syndrome. Ann Genet 24:220-222.
29. Schlötterer C, Tautz D (1992): Slippage synthesis of simple sequence DNA. Nuc Acids Res 20:211-215.
30. Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN (1993): Analysis of a CGG sequence at the FMR-1 locus in the fragile X families and in the general population. Am J Hum Genet 53:1217-1228.
31. Snow K, Tester DJ, Kruckenberg KE, Schaid DJ, Thibodeau SN (1994): Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum Molec Genet 3:1543-1551.
32. Soysa P, Senanayahe M, Mikkelsen M, Poulsen H (1982): Martin-Bell syndrome fra(X) (q28) in a Sri Lankan family. J Ment Defic Res 26:251-257.
33. Sutcliffe JS, Zhang F, Caskey CT, Nelson DL, Warren ST (1992): PCR amplification and analysis of yeast artificial chromosomes. Genomics 13:1303-1306.
34. Turner G, Robinson H, Laing S, Purvis-Smith S (1986): Preventive screening for the fragile X syndrome. N Engl J Med 315:607-699.
35. Turner G, Robinson H, Laing S, van den Berk M, Colley A, Goddard A, Sherman S, Partington M (1992): Population screening for fragile X. Lancet 339:1210-1213.
36. 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 21:807-811.
37. Webb T, Bundey S (1991): Prevalence of fragile X syndrome (letter). J Med Genet 28:358.
38. Webb TP, Bundey S, Thake A, Todd J (1986): The frequency of the fragile X chromosome among schoolchildren in Coventry. J Med Genet 23:396-369.
39. Webb TP, Bundey SE, Thake AI, Todd J (1986): Population incidence and segregation ratios in the Martin Bell syndrome. Am J Hum Genet 23:573-580.
40. n polymorphisms. Genomics 7:524-530.
41. Weissenbach J, Gyapay G, Dib C, Vignal A, Morisette J, Millasseau P, Vaysseix G, Lathrop M (1992): A second-generation linkage map of the human genome. Nature 359:794-801.
42. Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E, Holman K, Mulley JC, Warren ST, Schlessinger D (1991): Fragile X genotype characterized by an unstable region of DNA. Science 252:1179-1181.
43. Zar JH (1984). "Biostatistical Analysis," second Edition. New Jersey: Prentice Hall.
44. Zhong N, Dobkin C, Brown WT (1993): A complex mutable polymrophism located within the fragile X gene. Nat Genet 5:248-253.
45. Ziglschmid AJF (1947). "Das Kleine Geschichtsbuch der Hutterischen Bruder." Ithaka: Carl-Schurz Foundation.