Human genome sequence and variation

Vogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition)

Volumn , Issue , 2010, Pages 31-53

  Antonarakis, Stylianos E ^a  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84857149176     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-37654-5_3     Document Type: Chapter

References (153)

1. No authors listed (1992) A comprehensive genetic linkage map of the human genome. NIH/CEPH Collaborative Mapping Group. Science 258:67-86.
2. ENCODE Project Consortium (2004) The ENCODE (ENCyclopedia Of DNA Elements) Project. Science 306:636-640.
3. International Human Genome Sequencing Consortium (2004) Finishing the euchromatic sequence of the human genome. Nature 431:931-945.
4. Wellcome Trust Case Control Consortium (2007) Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature 447: 661-678.
5. Aaltonen LA, Peltomäki P, Leach FS, Sistonen P, Pylkkänen L et al (1993) Clues to pathogenesis of familial colorectal cancer. Science 260:812-816.
6. Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P (2005) A haplotype map of the human genome. Nature 437:1299-1320.
7. Amaral PP, Dinger ME, Mercer TR, Mattick JS (2008) The eukaryotic genome as an RNA machine. Science 319:1787-1789.
8. Anagnou NP, O'Brien SJ, Shimada T, Nash WG, Chen MJ, Nienhuis AW (1984) Chromosomal organization of the human dihydrofolate reductase genes: dispersion, selective amplifi cation, and a novel form of polymorphism. Proc Natl Acad Sci USA 81:5170-5174.
9. Antonacci F, Kidd JM, Marques-Bonet T, Ventura M, Siswara P et al (2009) Characterization of six human disease- Associated inversion polymorphisms. Hum Mol Genet 18:2555-2566.
10. Antonarakis SE (1989) Diagnosis of genetic disorders at the DNA level. N Engl J Med 320:153-163.
11. Antonarakis SE (1991) Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group. N Engl J Med 324:872-876.
12. Antonarakis SE (1994) Genome linkage scanning: Systematic or intelligent? Nat Genet 8:211-212.
13. Antonarakis SE, Avramopoulos D, Blouin JL, Talbot CC Jr, Schinzel AA (1993) Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age. Nat Genet 3:146-150.
14. Antonarakis SE, Petersen MB, McInnis MG, Adelsberger PA, Schinzel AA et al (1992) The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. Am J Hum Genet 50:544-550.
15. Armour JA, Jeffreys AJ (1992) Biology and applications of human minisatellite loci. Curr Opin Genet Dev 2:850-856.
16. Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV et al (2002) Recent segmental duplications in the human genome. Science 297:1003-1007.
17. Ballabio A (1993) The rise and fall of positional cloning. Nat Genet 3:277-279.
18. Batzer MA, Deininger PL (2002) Alu repeats and human genomic diversity. Nat Rev Genet 3:370-379.
19. Birney E, Stamatoyannopoulos JA, Dutta A, Guigo R, Gingeras TR et al (2007) Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447:799-816.
20. Blouin JL, Dombroski BA, Nath SK, Lasseter VK, Wolyniec PS et al (1998) Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet 20:70-73.
21. Boehm CD, Antonarakis SE, Phillips JA 3rd, Stetten G, Kazazian HH Jr (1983) Prenatal diagnosis using DNA polymorphisms Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia. N Engl J Med 308:1054-1058.
22. Brady T, Lee YN, Ronen K, Malani N, Berry CC et al (2009) Integration target site selection by a resurrected human endogenous retrovirus. Genes Dev 23:633-642.
23. Brown CJ, Hendrich BD, Rupert JL, Lafreniere RG, Xing Y et al (1992) The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell 71:527-542.
24. Brown WR, MacKinnon PJ, Villasante A, Spurr N, Buckle VJ, Dobson MJ (1990) Structure and polymorphism of human telomere-associated DNA. Cell 63:119-132.
25. Carter NP (2007) Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet 39:S16-S21.
26. Cavaille J, Seitz H, Paulsen M, Ferguson-Smith AC, Bachellerie JP (2002) Identification of tandemlyrepeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region. Hum Mol Genet 11:1527-1538.
27. Cavenee WK, Dryja TP, Phillips RA, Benedict WF, Godbout R et al (1983) Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 305:779-784.
28. Chakravarti A, Buetow KH, Antonarakis SE, Waber PG, Boehm CD, Kazazian HH (1984) Nonuniform recombination within the human beta-globin gene cluster. Am J Hum Genet 36:1239-1258.
29. Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q et al (1997) Homologous recombination of a fl anking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 17:154-163.
30. Choo K, Vissel B, Nagy A, Earle E, Kalitsis P (1991) A survey of the genomic distribution of alpha satellite DNA on all the human chromosomes, and derivation of a new consensus sequence. Nucleic Acids Res 19:1179-1182.
31. Choo KH, Earle E, McQuillan C (1990) A homologous subfamily of satellite III DNA on human chromosomes 14 and 22. Nucleic Acids Res 18:5641-5648.
32. Cohen D, Chumakov I, Weissenbach J (1993) A first-generation physical map of the human genome. Nature 366:698-701.
33. Collins FS (1990) Identifying human disease genes by positional cloning. Harvey Lect 86:149-164.
34. International HapMap Consortium (2003) The International HapMap Project. Nature 426:789-796.
35. Craig-Holmes AP, Shaw MW (1971) Polymorphism of human constitutive heterochromatin. Science 174: 702-704.
36. Cserpan I, Katona R, Praznovszky T, Novak E, Rozsavolgyi M et al (2002) The chAB4 and NF1-related long-range multisequence DNA families are contiguous in the centromeric heterochromatin of several human chromosomes. Nucleic Acids Res 30:2899-2905.
37. Deininger PL, Batzer MA (1999) Alu repeats and human disease. Mol Genet Metab 67:183-193.
38. Deloukas P, Earthrowl ME, Grafham DV, Rubenfield M, French L et al (2004) The DNA sequence and comparative analysis of human chromosome 10. Nature 429:375-381.
39. Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG et al (2001) The DNA sequence and comparative analysis of human chromosome 20. Nature 414:865-871.
40. Denoeud F, Kapranov P, Ucla C, Frankish A, Castelo R et al (2007) Prominent use of distal 5 ¢ transcription start sites and discovery of a large number of additional exons in ENCODE regions. Genome Res 17:746-759.
41. Dermitzakis ET, Reymond A, Antonarakis SE (2005) Conserved non-genic sequences-an unexpected feature of mammalian genomes. Nat Rev Genet 6:151-157.
42. Dermitzakis ET, Reymond A, Lyle R, Scamuffa N, Ucla C et al (2002) Numerous potentially functional but non-genic conserved sequences on human chromosome 21. Nature 420:578-582.
43. Dib C, Faure S, Fizames C, Samson D, Drouot N et al (1996) A comprehensive genetic map of the human genome based on 5, 264 microsatellites. Nature 380:152-154.
44. Djebali S, Kapranov P, Foissac S, Lagarde J, Reymond A et al (2008) Efficient targeted transcript discovery via array-based normalization of RACE libraries. Nat Methods 5:629-635.
45. Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL et al (2004) The DNA sequence and analysis of human chromosome 13. Nature 428:522-528.
46. Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR et al (1999) The DNA sequence of human chromosome 22. Nature 402:489-495.
47. Fearon ER, Vogelstein B, Feinberg AP (1984) Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumours. Nature 309:176-178.
48. Finn RD, Tate J, Mistry J, Coggill PC, Sammut SJ et al (2008) The Pfam protein families database. Nucleic Acids Res 36:D281-D288.
49. Foster EA, Jobling MA, Taylor PG, Donnelly P, de Knijff P et al (1998) Jefferson fathered slave's last child. Nature 396:27-28.
50. Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL et al (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature 449:851-861.
51. Gill P, Ivanov PL, Kimpton C, Piercy R, Benson N et al (1994) Identification of the remains of the Romanov family by DNA analysis. Nat Genet 6:130-135.
52. Gill P, Jeffreys AJ, Werrett DJ (1985) Forensic application of DNA 'fingerprints'. Nature 318:577-579.
53. Gonzalez IL, Sylvester JE (2001) Human rDNA: evolutionary patterns within the genes and tandem arrays derived from multiple chromosomes. Genomics 73: 255-263.
54. Goossens M, Dozy AM, Embury SH, Zachariades Z, Hadjiminas MG et al (1980) Triplicated alpha-globin loci in humans. Proc Natl Acad Sci USA 77:518-521.
55. Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D et al (2006) The DNA sequence and biological annotation of human chromosome 1. Nature 441:315-321.
56. Griffi ths-Jones S, Bateman A, Marshall M, Khanna A, Eddy SR (2003) Rfam: An RNA family database. Nucleic Acids Res 31:439-441.
57. Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J et al (2004) The DNA sequence and biology of human chromosome 19. Nature 428:529-535.
58. Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA et al (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306:234-236.
59. Guttman M, Amit I, Garber M, French C, Lin MF et al (2009) Chromatin signature reveals over a thousand highly conserved large noncoding RNAs in mammals. Nature 458:223-227.
60. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C et al (1994) The 1993-94 Genethon human genetic linkage map. Nat Genet 7:246-339.
61. Harrow J, Denoeud F, Frankish A, Reymond A, Chen CK (2006) GENCODE: Producing a reference annotation for ENCODE. Genome Biol 7([Suppl 1]:S4):1-9.
62. Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T et al (2000) The DNA sequence of human chromosome 21. Nature 405:311-319.
63. Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C et al (2003) The DNA sequence and analysis of human chromosome 14. Nature 421:601-607.
64. Hewitt JE, Lyle R, Clark LN, Valleley EM, Wright TJ et al (1994) Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 3:1287-1295.
65. Higgs DR, Weatherall DJ (2009) The alpha thalassaemias. Cell Mol Life Sci 66:1154-1162.
66. Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH et al (2003) The DNA sequence of human chromosome 7. Nature 424:157-164.
67. Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH et al (2005) Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature 434:724-731.
68. Hollis M, Hindley J (1988) Satellite II DNA of human lymphocytes: Tandem repeats of a simple sequence element. Nucleic Acids Res 16:363.
69. Hudson TJ, Stein LD, Gerety SS, Ma J, Castle AB et al (1995) An STS-based map of the human genome. Science 270:1945-1954.
70. Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE et al (2004) DNA sequence and analysis of human chromosome 9. Nature 429:369-374.
71. Jeffreys AJ, MacLeod A, Tamaki K, Neil DL, Monckton DG (1991) Minisatellite repeat coding as a digital approach to DNA typing. Nature 354:204-209.
72. Jeffreys AJ, Wilson V, Thein SL (1985) Hypervariable 'minisatellite' regions in human DNA. Nature 314:67-73.
73. Kalitsis P, Earle E, Vissel B, Shaffer LG, Choo KH (1993) A chromosome 13-specifi c human satellite I DNA subfamily with minor presence on chromosome 21: further studies on Robertsonian translocations. Genomics 16:104-112.
74. Kan YW, Dozy AM (1978) Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci USA 75:5631-5635.
75. Katayama S, Tomaru Y, Kasukawa T, Waki K, Nakanishi M et al (2005) Antisense transcription in the mammalian transcriptome. Science 309:1564-1566.
76. Kazazian HH Jr (2004) Mobile elements: drivers of genome evolution. Science 303:1626-1632.
77. Kazazian HH Jr, Goodier JL (2002) LINE drive. retrotransposition and genome instability. Cell 110:277-280.
78. Kazazian HH Jr, Wong C, Youssoufian H, Scott AF, Phillips DG, Antonarakis SE (1988) Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature 332:164-166.
79. Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N et al (2008) Mapping and sequencing of structural variation from eight human genomes. Nature 453:56-64.
80. King DC, Taylor J, Zhang Y, Cheng Y, Lawson HA et al (2007) Finding cis -regulatory elements using comparative genomics: Some lessons from ENCODE data. Genome Res 17:775-786.
81. Knowlton RG, Cohen-Haguenauer O, Van Cong N, Frezal J, Brown VA et al (1985) A polymorphic DNA marker linked to cystic fi brosis is located on chromosome 7. Nature 318:380-382.
82. Kuo BA, Gonzalez IL, Gillespie DA, Sylvester JE (1996) Human ribosomal RNA variants from a single individual and their expression in different tissues. Nucleic Acids Res 24:4817-4824.
83. Kurnit DM, Roy S, Stewart GD, Schwedock J, Neve RL et al (1986) The 724 family of DNA sequences is interspersed about the pericentromeric regions of human acrocentric chromosomes. Cytogenet Cell Genet 43: 109-116.
84. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC et al (2001) Initial sequencing and analysis of the human genome. Nature 409:860-921.
85. Levy S, Sutton G, Ng PC, Feuk L, Halpern AL et al (2007) The diploid genome sequence of an individual human. PLoS Biol 5:e254.
86. Lin JM, Collins PJ, Trinklein ND, Fu Y, Xi H et al (2007) Transcription factor binding and modifi ed histones in human bidirectional promoters. Genome Res 17:818-827.
87. Lindgren V, Ares M Jr, Weiner AM, Francke U (1985) Human genes for U2 small nuclear RNA map to a major adenovirus 12 modifi cation site on chromosome 17. Nature 314:115-116.
88. Lyle R, Prandini P, Osoegawa K, ten Hallers B, Humphray S et al (2007) Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21. Genome Res 17:1690-1696.
89. Lyle R, Wright TJ, Clark LN, Hewitt JE (1995) The FSHDassociated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. Genomics 28:389-397.
90. Margulies EH, Cooper GM, Asimenos G, Thomas DJ, Dewey CN et al (2007) Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res 17:760-774.
91. Martin J, Han C, Gordon LA, Terry A, Prabhakar S et al (2004) The sequence and analysis of duplication-rich human chromosome 16. Nature 432:988-994.
92. Maston GA, Evans SK, Green MR (2006) Transcriptional regulatory elements in the human genome. Annu Rev Genomics Hum Genet 7:29-59.
93. McVean GA, Myers SR, Hunt S, Deloukas P, Bentley DR, Donnelly P (2004) The fine-scale structure of recombination rate variation in the human genome. Science 304: 581-584.
94. Meneveri R, Agresti A, Della Valle G, Talarico D, Siccardi AG, Ginelli E (1985) Identification of a human clustered G + C-rich DNA family of repeats (Sau3A family). J Mol Biol 186:483-489.
95. Mikkelsen TS, Ku M, Jaffe DB, Issac B, Lieberman E et al (2007) Genome-wide maps of chromatin state in pluripotent and lineage-committed cells. Nature 448: 553-560.
96. Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H et al (1995) Molecular defi nition of the 22q11 deletions in velo-cardio-facial syndrome. Am J Hum Genet 56:1391-1403.
97. Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL et al (2003) The DNA sequence and analysis of human chromosome 6. Nature 425:805-811.
98. Muzny DM, Scherer SE, Kaul R, Wang J, Yu J et al (2006) The DNA sequence, annotation and analysis of human chromosome 3. Nature 440:1194-1198.
99. Nakamura Y, Leppert M, O'Connell P, Wolff R, Holm T et al (1987) Variable number of tandem repeat (VNTR) markers for human gene mapping. Science 235: 1616-1622.
100. Nicholls RD, Knoll JHM, Butler MG, Karami S, Lalande M (1989) Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342:281-285.
101. Nusbaum C, Mikkelsen TS, Zody MC, Asakawa S, Taudien S et al (2006) DNA sequence and analysis of human chromosome 8. Nature 439:331-335.
102. Nusbaum C, Zody MC, Borowsky ML, Kamal M, Kodira CD et al (2005) DNA sequence and analysis of human chromosome 18. Nature 437:551-555.
103. Parra G, Reymond A, Dabbouseh N, Dermitzakis ET, Castelo R et al (2006) Tandem chimerism as a means to increase protein complexity in the human genome. Genome Res 16:37-44.
104. Patel PI, Lupski JR (1994) Charcot-Marie-Tooth disease: A new paradigm for the mechanism of inherited disease. Trends Genet 10:128-133.
105. Pavelitz T, Liao D, Weiner AM (1999) Concerted evolution of the tandem array encoding primate U2 snRNA (the RNU2 locus) is accompanied by dramatic remodeling of the junctions with fl anking chromosomal sequences. EMBO J 18:3783-3792.
106. Pennacchio LA, Ahituv N, Moses AM, Prabhakar S, Nobrega MA et al (2006) In vivo enhancer analysis of human conserved non-coding sequences. Nature 444: 499-502.
107. Perez Jurado LA, Peoples R, Kaplan P, Hamel BC, Francke U (1996) Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet 59:781-792.
108. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH et al (2006) Global variation in copy number in the human genome. Nature 444:444-454.
109. Riethman H (2008) Human telomere structure and biology. Annu Rev Genomics Hum Genet 9:1-19.
110. Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK et al (2002) Genetic structure of human populations. Science 298:2381-2385.
111. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K et al (2005) The DNA sequence of the human X chromosome. Nature 434:325-337.
112. Roy-Engel AM, Carroll ML, Vogel E, Garber RK, Nguyen SV et al (2001) Alu insertion polymorphisms for the study of human genomic diversity. Genetics 159: 279-290.
113. Royo H, Cavaille J (2008) Non-coding RNAs in imprinted gene clusters. Biol Cell 100:149-166.
114. Rudd MK, Willard HF (2004) Analysis of the centromeric regions of the human genome assembly. Trends Genet 20:529-533.
115. Sabeti PC, Reich DE, Higgins JM, Levine HZ, Richter DJ et al (2002) Detecting recent positive selection in the human genome from haplotype structure. Nature 419:832-837.
116. Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E et al (2007) Genome-wide detection and characterization of positive selection in human populations. Nature 449:913-918.
117. Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU et al (2008) Prader-Willi phenotype caused by paternal defi ciency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 40:719-721.
118. Samonte RV, Eichler EE (2002) Segmental duplications and the evolution of the primate genome. Nat Rev Genet 3:65-72.
119. Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI et al (2007) Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316:1331-1336.
120. Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A et al (2006) The finished DNA sequence of human chromosome 12. Nature 440:346-351.
121. Schmutz J, Martin J, Terry A, Couronne O, Grimwood J et al (2004) The DNA sequence and comparative analysis of human chromosome 5. Nature 431:268-274.
122. Schueler MG, Sullivan BA (2006) Structural and functional dynamics of human centromeric chromatin. Annu Rev Genomics Hum Genet 7:301-313.
123. Sharp AJ, Cheng Z, Eichler EE (2006) Structural variation of the human genome. Annu Rev Genomics Hum Genet 7:407-442.
124. She X, Horvath JE, Jiang Z, Liu G, Furey TS et al (2004) The structure and evolution of centromeric transition regions within the human genome. Nature 430:857-864.
125. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L et al (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825-837.
126. Sleutels F, Zwart R, Barlow DP (2002) The non-coding Air RNA is required for silencing autosomal imprinted genes. Nature 415:810-813.
127. Smit AF (1996) The origin of interspersed repeats in the human genome. Curr Opin Genet Dev 6:743-748.
128. Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH et al (1988) Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42:217-226.
129. Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G et al (2005) A common inversion under selection in Europeans. Nat Genet 37:129-137.
130. Tapparel C, Reymond A, Girardet C, Guillou L, Lyle R et al (2003) The TPTE gene family: cellular expression, subcellular localization and alternative splicing. Gene 323:189-199.
131. Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y et al (2006) Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature 440:497-500.
132. Tishkoff SA, Reed FA, Friedlaender FR, Ehret C, Ranciaro A et al (2009) The genetic structure and history of Africans and African Americans. Science 324:1035-1044.
133. Trinklein ND, Karaoz U, Wu J, Halees A, Force Aldred S et al (2007) Integrated analysis of experimental data sets reveals many novel promoters in 1% of the human genome. Genome Res 17:720-731.
134. Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA et al (2005) Fine-scale structural variation of the human genome. Nat Genet 37:727-732.
135. Tycowski KT, You ZH, Graham PJ, Steitz JA (1998) Modification of U6 spliceosomal RNA is guided by other small RNAs. Mol Cell 2:629-638.
136. Umlauf D, Fraser P, Nagano T (2008) The role of long non-coding RNAs in chromatin structure and gene regulation: variations on a theme. Biol Chem 389:323-331.
137. Venter JC, Adams MD, Myers EW, Li PW, Mural RJ et al (2001) The sequence of the human genome. Science 291:1304-1351.
138. Verma RS, Dosik H, Lubs HA (1977) Size variation polymorphisms of the short arm of human acrocentric chromosomes determined by R-banding by fluorescence using acridine orange (RFA). Hum Genet 38:231-234.
139. Wahl MC, Will CL, Luhrmann R (2009) The spliceosome: design principles of a dynamic RNP machine. Cell 136:701-718.
140. Wallace DC (1999) Mitochondrial diseases in man and mouse. Science 283:1482-1488.
141. Wallace DC (2005) A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine. Annu Rev Genet 39:359-407.
142. Wallace DC (2007) Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine. Annu Rev Biochem 76:781-821.
143. Warburton D (1991) De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49:995-1013.
144. Warren AC, Slaugenhaupt SA, Lewis JG, Chakravarti A, Antonarakis SE (1989) A genetic linkage map of 17 markers on human chromosome 21. Genomics 4:579-591.
145. Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF (2002) Initial sequencing and comparative analysis of the mouse genome. Nature 420:520-562.
146. Waye JS, Willard HF (1989) Human beta satellite DNA: genomic organization and sequence defi nition of a class of highly repetitive tandem DNA. Proc Natl Acad Sci USA 86:6250-6254.
147. Weinstein LB, Steitz JA (1999) Guided tours: from precursor snoRNA to functional snoRNP. Curr Opin Cell Biol 11:378-384.
148. Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J et al (1993) A second generation linkage map of the human genome. Nature 359:794-801.
149. Woods-Samuels P, Wong C, Mathias SL, Scott AF, Kazazian HH Jr, Antonarakis SE (1989) Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements. Genomics 4:290-296.
150. Wyman AR, White R (1980) A highly polymorphic locus in human DNA. Proc Natl Acad Sci USA 77:6754-6758.
151. Zhang Z, Harrison PM, Liu Y, Gerstein M (2003) Millions of years of evolution preserved: A comprehensive catalog of the processed pseudogenes in the human genome. Genome Res 13:2541-2558.
152. Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J et al (2006) DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature 440:1045-1049.
153. Zody MC, Garber M, Sharpe T, Young SK, Rowen L et al (2006) Analysis of the DNA sequence and duplication history of human chromosome 15. Nature 440: 671-675.