Historical development of analysing large-scale changes in the human genome

Cytogenetic and Genome Research

Volumn 115, Issue 3-4, 2006, Pages 198-204

  Pearson, P L ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA;

ACHIEVEMENT; CHROMOSOME ANALYSIS; CHROMOSOME PAINTING; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DNA CONTENT; DNA DETERMINATION; DNA MICROARRAY; DNA SEQUENCE; FLUORESCENCE ACTIVATED CELL SORTING; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MAPPING; GENETIC CODE; GENETICS; GENOMICS; HISTORY OF MEDICINE; HUMAN; HUMAN GENOME; IN SITU HYBRIDIZATION; KINETICS; MICROSCOPY; NONHUMAN; POLYPLOIDY; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVIEW; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

GENETIC TECHNIQUES; GENOME, HUMAN; GENOMICS; HISTORY, 20TH CENTURY; HUMANS; NUCLEIC ACID HYBRIDIZATION; RESEARCH; SEQUENCE ANALYSIS, DNA;

ECHINOIDEA;

EID: 33751540343     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000095915     Document Type: Review

References (41)

1. Blakeslee A: Distinction between primary and secondary chromosomal mutants in Datura . Proc Natl Acad Sci USA 10:109-116 (1924).
2. Botstein D, White RL, Skolnick M, Davis RW: Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 32:314-331 (1980).
3. Boveri T: Zellenstudien VI. Die Entwicklung dispermer Seeigeleier. Ein Beitrag zur Befruchtungslehre und zur Theorie des Kernes. Jena Z Naturwiss 43:1-292 (1907).
4. Boveri T: Zur Frage der Entstehung maligner Tumoren. (Gustav Fischer, Jena 1914).
5. Britten RJ, Kohne DE: Repeated sequences in DNA. Hundreds of thousands of copies of DNA sequences have been incorporated into the genomes of higher organisms. Science 161:529-540 (1968).
6. Caspersson T: Nukleinsäureketten und Genvermehrung. Chromosoma 1:605 (1940).
7. Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK: A high-resolution survey of deletion polymorphism in the human genome. Nat Genet 38:75-81 (2006).
8. Davies KE, Young BD, Elles RG, Hill ME, Williamson R: Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry. Nature 293:374-376 (1981).
9. Devilee P, van den Broek M, Kuipers-Dijkshoorn N, Kolluri R, Khan PM, et al: At least four different chromosomal regions are involved in loss of heterozygosity in human breast carcinoma. Genomics 5:554-560 (1989).
10. Dib C, Faure S, Fizames C, Samson D, Drouot N, et al: A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154 (1996).
11. Disteche CM, Kunkel LM, Lojewski A, Orkin SH, Eisenhard M, et al: Isolation of mouse X-chromosome specific DNA from an X-enriched lambda phage library derived from flow sorted chromosomes. Cytometry 2:282-286 (1982).
12. Gray JW, Lucas JN, Pinkel D, Awa A: Structural chromosome analysis by whole chromosome painting for assessment of radiation-induced genetic damage. J Radiat Res (Tokyo) 33 Suppl:80-86 (1992).
13. Hardie DC, Gregory TR, Hebert PD: From pixels to picograms: a beginners' guide to genome quantification by Feulgen image analysis densitometry. J Histochem Cytochem 50:735-749 (2002).
14. Harris P, Boyd E, Ferguson-Smith MA: Optimising human chromosome separation for the production of chromosome-specific DNA libraries by flow sorting. Hum Genet 70:59-65 (1985).
15. Henderson AS, Warburton D, Atwood KC: Location of ribosomal DNA in the human chromosome complement. Proc Natl Acad Sci USA 69:3394-3398 (1972).
16. Henking H: in McClung CE (1902) 'The accessory Chromosome: Sex Determinant?'. Biol Bull 3:43-84 (1890).
17. Herzenberg LA, Parks D, Sahaf B, Perez O, Roederer M, Herzenberg LA: The history and future of the fluorescence activated cell sorter and flow cytometry: a view from Stanford. Clin Chem 48:1819-1827 (2002).
18. Jones KW, Corneo G: Location of satellite and homogeneous DNA sequences on human chromosomes. Nat New Biol 233:268-271 (1971).
19. Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, et al: Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258:818-821 (1992).
20. Kan YW, Golbus MS, Dozy AM: Prenatal diagnosis of alpha-thalassemia. Clinical application of molecular hybridization. N Engl J Med 295: 1165-1167 (1976).
21. Kirchhoff M, Rose H, Lundsteen C: High resolution comparative genomic hybridisation in clinical cytogenetics. J Med Genet 38:740-744 (2001).
22. Krepischi-Santos ACV, Vianna-Morgante AM, Jehee FS, Passos-Bueno MR, Knijnenburg J, et al: Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. Cytogenet Genome Res 115:254-261 (2006).
23. Langer-Safer PR, Levine M, Ward DC: Immunological method for mapping genes on Drosophila polytene chromosomes. Proc Natl Acad Sci USA 79:4381-4385 (1982).
24. Ledbetter SA, Nelson DL, Warren ST, Ledbetter DH: Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction. Genomics 6:475-481 (1990).
25. Lejeune J, Gautier M, Turpin R: [Study of somatic chromosomes from 9 mongoloid children]. C R Hebd Seances Acad Sci 248:1721-1722 (1959).
26. Lichter P, Cremer T, Borden J, Manuelidis L, Ward DC: Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum Genet 80:224-234 (1988).
27. Little RD, Porta G, Carle GF, Schlessinger D, D'Urso M: Yeast artificial chromosomes with 200- to 800-kilobase inserts of human DNA containing HLA, V kappa, 5S, and Xq24-Xq28 sequences. Proc Natl Acad Sci USA 86:1598-1602 (1989).
28. Morgan T: An attempt to analyze the constitution of the chromosomes on the basis of sex-limited inheritance in Drosophila . J Exp Zool 11:365-412 (1911).
29. Mullis K, Faloona F, Scharf S, Saiki R, Horn G, Erlich H: Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction. 1986. Biotechnology 24:17-27 (1992).
30. Muto M: Estimation of gene reiteration from hybridization kinetics in moderate deoxyribonucleic acid excess. Biochem J 165:19-25 (1977).
31. Nowell P, Hungerford D: A minute chromosome in human chronic granulocytic leukemia. Science 132:1497-1501 (1960).
32. Price PM, Conover JH, Hirschhorn K: Chromosomal localization of human haemoglobin structural genes. Nature 237:340-342 (1972).
33. Snijders AM, Nowak N, Segraves R, Blackwood S, Brown N, et al: Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 29:263-264 (2001).
34. Stevens N: Studies in spermatogenesis with especial reference to the 'Accessory Chromosome'. (Carnegie Institute of Washington, Washington 1905).
35. Telenius H, Pelmear AH, Tunnacliffe A, Carter NP, Behmel A, et al: Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes. Genes Chromosomes Cancer 4:257-263 (1992).
36. Tjio H, Levan A: The chromosome numbers of man. Hereditas 42:1-6 (1956).
37. Waardenburg P: Das menschliche Auge und seine Erbanlangen, p 44 (The Hague: Martinus Nijhoff, 1932).
38. Wang M, Chen XN, Shouse S, Manson J, Wu Q, et al: Construction and characterization of a human chromosome 2-specific BAC library. Genomics 24:527-534 (1994).
39. Wells D, Delhanty JD: Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod 6:1055-1062 (2000).
40. Wilson E: The chromosomes in relation to the determination of sex in insects. Science 22:500-502 (1905).
41. Yang F, Alkalaeva EZ, Perelman PL, Pardini AT, Harrison WR, et al: Reciprocal chromosome painting among human, aardvark, and elephant (superorder Afrotheria) reveals the likely eutherian ancestral karyotype. Proc Natl Acad Sci USA 100:1062-1066 (2003).