Abstract
The knowledge of the content of the individual human genomes has become a sine qua non for the understanding of the relationship between geno-typic and phenotypic variability. The genome sequence and the ongoing functional annotation require both comparative genome analysis among different species and experimental validation. Extensive common and rare genomic variability exists that strongly influences genome function among individuals, partially determining disease susceptibility.
Keywords
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
No authors listed (1992) A comprehensive genetic linkage map of the human genome. NIH/CEPH Collaborative Mapping Group. Science 258:67–86
ENCODE Project Consortium (2004) The ENCODE (ENCyclopedia Of DNA Elements) Project. Science 306:636–640
International Human Genome Sequencing Consortium (2004) Finishing the euchromatic sequence of the human genome. Nature 431:931–945
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
Aaltonen LA, Peltomäki P, Leach FS, Sistonen P, Pylkkänen L et al (1993) Clues to pathogenesis of familial colorectal cancer. Science 260:812–816
Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P (2005) A haplotype map of the human genome. Nature 437:1299–1320
Amaral PP, Dinger ME, Mercer TR, Mattick JS (2008) The eukaryotic genome as an RNA machine. Science 319:1787–1789
Anagnou NP, O'Brien SJ, Shimada T, Nash WG, Chen MJ, Nienhuis AW (1984) Chromosomal organization of the human dihydrofolate reductase genes: dispersion, selective amplification, and a novel form of polymorphism. Proc Natl Acad Sci USA 81:5170–5174
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
Antonarakis SE (1989) Diagnosis of genetic disorders at the DNA level. N Engl J Med 320:153–163
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
Antonarakis SE (1994) Genome linkage scanning: systematic or intelligent? Nat Genet 8:211–212
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
Antonarakis SE, Petersen MB, McInnis MG, Adelsberger PA, Schinzel AA et al (1992) The meiotic stage of nondis-junction in trisomy 21: determination by using DNA polymorphisms. Am J Hum Genet 50:544–550
Armour JA, Jeffreys AJ (1992) Biology and applications of human minisatellite loci. Curr Opin Genet Dev 2:850–856
Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV et al (2002) Recent segmental duplications in the human genome. Science 297:1003–1007
Ballabio A (1993) The rise and fall of positional cloning. Nat Genet 3:277–279
Batzer MA, Deininger PL (2002) Alu repeats and human genomic diversity. Nat Rev Genet 3:370–379
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
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
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
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
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
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
Carter NP (2007) Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet 39:S16–S21
Cavaille J, Seitz H, Paulsen M, Ferguson-Smith AC, Bachellerie JP (2002) Identification of tandemly-repeated 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
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
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
Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q et al (1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet 17:154–163
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
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
Cohen D, Chumakov I, Weissenbach J (1993) A first-gen-eration physical map of the human genome. Nature 366:698–701
Collins FS (1990) Identifying human disease genes by positional cloning. Harvey Lect 86:149–164
International HapMapConsortium(2003) TheInternational HapMap Project. Nature 426:789–796
Craig-Holmes AP, Shaw MW (1971) Polymorphism of human constitutive heterochromatin. Science 174:702–704
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
Deininger PL, Batzer MA (1999) Alu repeats and human disease. Mol Genet Metab 67:183–193
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
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
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
Dermitzakis ET, Reymond A, Antonarakis SE (2005) Conserved non-genic sequences—an unexpected feature of mammalian genomes. Nat Rev Genet 6:151–157
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
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
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
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
Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR et al (1999) The DNA sequence of human chromosome 22. Nature 402:489–495
Fearon ER, Vogelstein B, Feinberg AP (1984) Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumours. Nature 309:176–178
Finn RD, Tate J, Mistry J, Coggill PC, Sammut SJ et al (2008) The Pfam protein families database. Nucleic Acids Res 36:D281–D288
Foster EA, Jobling MA, Taylor PG, Donnelly P, de Knijff P et al (1998) Jefferson fathered slave's last child. Nature 396:27–28
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
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
Gill P, Jeffreys AJ, Werrett DJ (1985) Forensic application of DNA ‘fingerprints’. Nature 318:577–579
Gonzalez IL, Sylvester JE (2001) Human rDNA: evolutionary patterns within the genes and tandem arrays derived from multiple chromosomes. Genomics 73:255–263
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
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
Griffiths-Jones S, Bateman A, Marshall M, Khanna A, Eddy SR (2003) Rfam: an RNA family database. Nucleic Acids Res 31:439–441
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
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
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
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
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
Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T et al (2000) The DNA sequence of human chromosome 21. Nature 405:311–319
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
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
Higgs DR, Weatherall DJ (2009) The alpha thalassaemias. Cell Mol Life Sci 66:1154–1162
Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH et al (2003) The DNA sequence of human chromosome 7. Nature 424:157–164
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
Hollis M, Hindley J (1988) Satellite II DNA of human lymphocytes: tandem repeats of a simple sequence element. Nucleic Acids Res 16:363
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
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
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
Jeffreys AJ, Wilson V, Thein SL (1985) Hypervariable ‘minisatellite’ regions in human DNA. Nature 314:67–73
Kalitsis P, Earle E, Vissel B, Shaffer LG, Choo KH (1993) A chromosome 13-specific human satellite I DNA subfamily with minor presence on chromosome 21: further studies on Robertsonian translocations. Genomics 16:104–112
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
Katayama S, Tomaru Y, Kasukawa T, Waki K, Nakanishi M et al (2005) Antisense transcription in the mammalian transcriptome. Science 309:1564–1566
Kazazian HH Jr (2004) Mobile elements: drivers of genome evolution. Science 303:1626–1632
Kazazian HH Jr, Goodier JL (2002) LINE drive. retrotrans-position and genome instability. Cell 110:277–280
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
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
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
Knowlton RG, Cohen-Haguenauer O, Van Cong N, Frezal J, Brown VA et al (1985) A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. Nature 318:380–382
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
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
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
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
Lin JM, Collins PJ, Trinklein ND, Fu Y, Xi H et al (2007) Transcription factor binding and modified histones in human bidirectional promoters. Genome Res 17:818–827
Lindgren V, Ares M Jr, Weiner AM, Francke U (1985) Human genes for U2 small nuclear RNA map to a major adenovirus 12 modification site on chromosome 17. Nature 314:115–116
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
Lyle R, Wright TJ, Clark LN, Hewitt JE (1995) The FSHD-associated 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
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
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
Maston GA, Evans SK, Green MR (2006) Transcriptional regulatory elements in the human genome. Annu Rev Genomics Hum Genet 7:29–59
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
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
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
Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H et al (1995) Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am J Hum Genet 56:1391–1403
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
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
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
Nicholls RD, Knoll JHM, Butler MG, Karami S, Lalande M (1989) Genetic imprinting suggested by maternal het-erodisomy in non-deletion Prader-Willi syndrome. Nature 342:281–285
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
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
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
Patel PI, Lupski JR (1994) Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet 10:128–133
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 flanking chromosomal sequences. EMBO J 18:3783–3792
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
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
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
Riethman H (2008) Human telomere structure and biology. Annu Rev Genomics Hum Genet 9:1–19
Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK et al (2002) Genetic structure of human populations. Science 298:2381–2385
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
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
Royo H, Cavaille J (2008) Non-coding RNAs in imprinted gene clusters. Biol Cell 100:149–166
Rudd MK, Willard HF (2004) Analysis of the centromeric regions of the human genome assembly. Trends Genet 20:529–533
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
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
Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU et al (2008) Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 40:719–721
Samonte RV, Eichler EE (2002) Segmental duplications and the evolution of the primate genome. Nat Rev Genet 3:65–72
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
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
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
Schueler MG, Sullivan BA (2006) Structural and functional dynamics of human centromeric chromatin. Annu Rev Genomics Hum Genet 7:301–313
Sharp AJ, Cheng Z, Eichler EE (2006) Structural variation of the human genome. Annu Rev Genomics Hum Genet 7:407–442
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
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
Sleutels F, Zwart R, Barlow DP (2002) The non-coding Air RNA is required for silencing autosomal imprinted genes. Nature 415:810–813
Smit AF (1996) The origin of interspersed repeats in the human genome. Curr Opin Genet Dev 6:743–748
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
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
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
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
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
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
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
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
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
Venter JC, Adams MD, Myers EW, Li PW, Mural RJ et al (2001) The sequence of the human genome. Science 291:1304–1351
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
Wahl MC, Will CL, Luhrmann R (2009) The spliceosome: design principles of a dynamic RNP machine. Cell 136:701–718
Wallace DC (1999) Mitochondrial diseases in man and mouse. Science 283:1482–1488
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
Wallace DC (2007) Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine. Annu Rev Biochem 76:781–821
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
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
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
Waye JS, Willard HF (1989) Human beta satellite DNA: genomic organization and sequence definition of a class of highly repetitive tandem DNA. Proc Natl Acad Sci USA 86:6250–6254
Weinstein LB, Steitz JA (1999) Guided tours: from precursor snoRNA to functional snoRNP. Curr Opin Cell Biol 11:378–384
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
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
Wyman AR, White R (1980) A highly polymorphic locus in human DNA. Proc Natl Acad Sci USA 77:6754–6758
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
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
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
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2010 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Antonarakis, S.E. (2010). Human Genome Sequence and Variation. In: Speicher, M.R., Motulsky, A.G., Antonarakis, S.E. (eds) Vogel and Motulsky's Human Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-37654-5_3
Download citation
DOI: https://doi.org/10.1007/978-3-540-37654-5_3
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-37653-8
Online ISBN: 978-3-540-37654-5
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)