THE X CHROMOSOME SEQUENCE

An exhibit accompanying
the ESHG 2004 conference in Munich
Saturday June 12th 20:00 h, International Congress Centre Munich
Introduction Literature Sequence Legends Acknowledgements
1910 X-linked mode of inheritance described
Morgan TH (1910) Sex-limited inheritance in drosophila. Science 32, 120-122.
1911 Postulated linkage of colorblindness to the X chromosome in humans
Wilson EB (1911) The sex chromosomes. Arch Mikrosk Anat Entwicklungsmech 77, 249-271.
1912 X chromosome identified under the microscope
Von Winnewater G (1912) Etudes sur la spermatogenese humaine. I. Cellule de Sertoli. II. Heterochromosome et mitoses de l'epithelium seminal. Arch Biol 27, 91-189.
1925 Dominant X-linked inheritance described in humans
Siemens, HW (1925) Über einen, in der menschlichen Pathologie noch nicht beobachteten Vererbungsmodus: Dominant geschlechtsgebundene Vererbung. Arch Rassenbiol 17, 47-61.
1937 First linkage group in man
Bell J, Haldane JBS (1937) The linkage between the genes for colour-blindness and haemophilia in man. Proc Roy Soc London 123B, 119-150.
1949 Barr body identified
Barr ML, Bertram LF (1949) A morphological distinction between neurones of the male and the female and the behavior of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature 163, 676-677.
1953 First X-linked locus identified in the mouse (Ta)
Falconer DS (1953) Total sex linkage in the house mouse. Z Indukt Abstammungs-Vererbungsl 85, 210-219.
1959 X-chromosomal aneuploidies identified
Jacobs PA, Strong JA (1959) A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183, 302-303.
Ford CE, Miller OJ, Polani PE, de Almeida JC, Briggs JH (1959) A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet 1, 711-713.
Barr body shown to be a single X chromosome
Ohno S, Kaplan WD, Kinoshita R (1959) Formation of the sex chromatin by a single X chromosome in liver cells of Rattus norvegicus. Exp Cell Res 18, 415-418.
XO mice discovered
Welshons WJ, Russell LB (1959) The Y-chromosome as the bearer of male-determining factors in the house mouse. Proc Natl Acad Sci USA 45, 560-566.
1961 X-inactivation hypothesis formulated
Lyon MF (1961) Gene action in the X chromosome of the mouse (Mus musculus L). Nature 190, 372-373.
1962 X-inactivation demonstrated in humans
Beutler E, Yeh M, Fairbanks VF (1962) The normal human female as a mosaic of X-chromosome activity: studies using the gene for G-6-PD-deficiency as a marker. Proc Natl Acad Sci USA 48, 9-16.
1963 X-inactivation center postulated
Russell LB (1963) Mammalian X-chromosome action: inactivation limited in spread and in region of origin. Science 140, 976-978.
1967 Compilation of sex-linked gene homologies and formulation of Ohno's law
Ohno S (1967) Sex Chromosomes and Sex-linked Genes. Berlin, Springer.
1972 Male excess for X-linked retardation postulated
Lehrke R (1972) Theory of X-linkage of major intellectual traits. Am J Ment Defic 76, 611-619.
1982 Human hemophilia gene cloned
Choo KH, Gould KG, Rees DJ, Brownlee GG (1982) Molecular cloning of the gene for anti-haemophilic factor IX. Nature 299, 178-180.
1985 Sherman's paradox formulated
Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN, Nielsen KB, Partington MW, Sutherland GR, Turner G, Watson M (1985) Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 69, 289-299.
Comparative map for human and mouse X chromsosomes
Buckle VJ, Edwards JH, Evans EP, Jonasson JA, Lyon MF, Peters J, Searle AC (1985) Comparative maps of human and mouse X chromosomes. Cytogen Cell Genet 40, 594-595.
1986 Tandem arrays and unequal recombination demonstrated
Nathans J, Thomas D, Hogness DS (1986) Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science 232, 193-202.
Nathans J, Piantanida TP, Eddy RL, Shows TB, Hogness DS (1986) Molecular genetics of inherited variation in human color vision. Science 232, 203-210.
First disease genes identified by positional cloning approach
Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH(1986) Cloning the gene for an inherited human disorder - chronic granulomatous disease - on the basis of its chromosomal location. Nature 322, 32-38.
Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM (1986) Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323, 646-650.
1991 Xi-specific transcript (Xist) gene discovered
Borsani G, Tonlorenzi R, Simmler MC, Dandolo L, Arnaud D, Capra V, Grompe M, Pizzuti A, Muzny D, Lawrence C, Willard H, Avner P, Ballabio A (1991) Characterization of a murine gene expressed from the inactive X chromosome. Nature 351, 325-329.
Brockdorff N, Ashworth A, Kay GF, Cooper P, Smith S, McCabe VM, Norris DP, Penny GD, Patel D, Rastan S (1991) Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome. Nature 351, 329-331.
Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, Willard HF (1991) A gene from the region of the of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 349, 38-44.
Positive selection in human genes
Vulliamy TJ, Othman A, Town M, Nathwani A, Falusi AG, Mason PJ, Luzzatto L (1991) Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-. Proc Natl Acad Sci USA 88, 8568-8571.
Unstable triplet expansion discovered
Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST, et al (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 20, 1047-1058.
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 methylation in fragile X syndrome. Science 252, 1097-1102.
Kremer EJ, Pritchard M, Lynch M, Yu S, Holman K, Baker E, Warren ST, Schlessinger D, Sutherland GR, Richards RI (1991) Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252, 1711-1714.
1996 XIST transcript localized to the inactive X chromosome
Clemson CM, McNeil JA, Willard HF, Lawrence JB (1996) XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure. J Cell Biol 132, 259-275.
Xist directly associated with X-inactivation
Penny GD, Kay GF, Sheardown SA, Rastan S, Brockdorf N (1996) The Xist gene is required in cis for X chromosome inactivation. Nature 379, 131-137.
1999 Mutations identified in Rett syndrome
Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23, 185-188.
2000 Gene therapy for an X-linked disorder
Cavazzana-Calvo M, Hacein-Bey S, de Saint Basile G, Gross F, Yvon E, Nusbaum P, Selz F, Hue C, Certain S, Casanova JL, Bousso P, Deist FL, Fischer A (2000) Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 288, 669-672.
2004 Programming of X chromosome imprinting in eutherians described
Okamoto I, Otte AP, Allis CD, Reinberg D, Heard E (2004) Epigenetic dynamics of imprinted X inactivation during early mouse development. Science 303, 644-649.
Mak W, Nesterova TB, de Napoles M, Appanah R, Yamanaka S, Otte AP, Brockdorff N (2004) Reactivation of the paternal X chromosome in early mouse embryos. Science 303, 666-669.
Full annotation of the X chromosome sequence
Ross et al. (2004) The sequence of the X chromosome. Nature in preparation